MitoCanada

Therapies for Mitochondrial Disease – Past, Present, and Future

Science moves fastest when everyone can take part. That’s why MitoCanada is committed to empowering our community with knowledge. By translating cutting-edge mitochondrial research into clear, easy-to-understand summaries, we aim to nurture curiosity, strengthen understanding, and build confidence in the science driving hope and progress.

Lay Summary: Therapies for Mitochondrial Disease -Past, Present, and Future

Authors:

Ball, M., van Bergen, N.J., Compton, A.G., Thorburn, D.R., Rahman, S., & Christodoulou, J. (2025). Therapies for Mitochondrial Disease: Past, Present, and Future. Journal of Inherited Metabolic Disease, 48:e70065.

What’s this research about?

This review examines how treatments for mitochondrial disease (MD) have evolved over the past six decades, and where the field is heading next. The authors trace the journey from the first clinical description of mitochondrial dysfunction in the early 1960s to today’s rapidly expanding era of genetic discovery and targeted therapeutics. 

The review explores both the current management strategies for specific mitochondrial diseases (like CoQ10, thiamine, biotin, and exercise) and the emerging therapeutic frontiers, including dietary approaches, gene and RNA-based therapies, small molecule treatments, and mitochondrial-targeted peptides. It also critically discusses why translating scientific breakthroughs into effective clinical treatments remains challenging, a reflection of the biological complexity and variability of mitochondrial disorders.

Why is this important?

For decades, families affected by mitochondrial disease have faced a difficult reality: although diagnosis has improved, effective treatments remain limited. This review highlights the steady progress being made to change that. The field is shifting from supportive care toward precision medicine, treatments designed to correct the root causes of mitochondrial dysfunction rather than just relieve symptoms.

The authors also discuss why turning scientific discoveries into real treatments is so challenging. Mitochondrial diseases are rare, caused by many different genetic changes, and can look very different from one person to another. It’s also hard to get treatments to reach energy-hungry organs like the brain and heart, where they’re needed most. Researchers are still working to find reliable ways to measure whether a therapy is truly helping, both through biomarkers (measurable signs in the body that show how the disease is behaving) and outcome measures (tests or observations that show whether a treatment is improving health or quality of life).

Even with these challenges, the review makes it clear that mitochondrial medicine is moving forward faster than ever, powered by international teamwork, strong patient involvement, and innovative clinical trial design.

How did they study this?

Instead of focusing on one experiment, the authors brought together decades of research to paint a clear picture of where mitochondrial medicine stands today. They reviewed scientific papers, clinical trial results, and case studies that explored everything from well-known vitamin and cofactor therapies to the latest gene-and cell-based treatments.

To make sense of so much information, they grouped their findings into themes, ranging from long-used “mito-cocktail” supplements to exciting new areas such as boosting NAD+ levels, regulating cell-energy pathways (like mTOR), and developing gene therapies. By looking closely at both the successes and the setbacks, the authors highlight which treatments are showing real promise, which still need more study, and what lessons can guide future breakthroughs.

What did they find?

1. Current therapies

Right now, there’s no single cure for mitochondrial disease, so most treatments focus on easing symptoms, supporting energy production, and improving quality of life. However, for a few specific mitochondrial conditions, where doctors understand the exact chemical pathway that’s disrupted, certain vitamins and cofactors can make a measurable difference.

  • Coenzyme Q10 (CoQ10):This molecule helps move electrons inside mitochondria, a key step in producing energy. In people with primary CoQ10 deficiency, whose bodies don’t make enough CoQ10, taking supplements can improve kidney and nerve function. Results vary, though, since CoQ10 doesn’t always reach the brain efficiently.
  • Thiamine (Vitamin B1): Helps enzymes that convert food into energy. When taken early, it can improve neurological symptoms in thiamine-responsive basal ganglia disease and some forms of pyruvate dehydrogenase complex deficiency
  • Biotin (Vitamin B7):Needed for several enzymes that process fats and proteins. Lifelong biotin supplementation can prevent or reverse neurological and skin symptoms in people with biotinidase deficiency.
  • Riboflavin (Vitamin B2): Supports key mitochondrial enzymes. High-dose riboflavin has helped many people with ACAD9 deficiency and multiple acyl-CoA dehydrogenase deficiency regain strength and reduce fatigue..

Many people with mitochondrial disease also take nutritional supplements, often referred to as a “mitochondrial cocktail.” While the scientific evidence for their benefit is mixed, these supplements are generally safe and sometimes help with energy and stamina.

Exercise therapy is another proven, non-drug approach. Gentle, progressive endurance or resistance training, when done under supervision, can stimulate the growth of new mitochondria, improve muscle strength, and enhance daily functioning and well-being.


2. Emerging and experimental therapies

Researchers around the world are testing a variety of new treatments aimed at fixing or compensating for mitochondrial malfunction. Here are some of the most promising areas of discovery:

  • Dietary approaches: High-fat, low-carbohydrate ketogenic diets and specialized fats such as triheptanoin may give cells an alternate energy source, helping reduce seizures or muscle weakness in certain conditions. Because these diets can sometimes cause side effects, they must be used with medical guidance.
  • Stimulating mitochondrial growth:Some drugs, like bezafibrate, REN001, and omaveloxolone try to “switch on” the body’s own pathways that make and maintain mitochondria. Early studies show improvements in some cellular markers and mild symptom relief, though large-scale benefits have yet to be proven.
  • Restoring NAD⁺ balance: NAD⁺ is a molecule essential for energy production, and levels can drop in mitochondrial disease. Supplements such as
     nicotinamide riboside, nicotinamide mononucleotide, and KL1333 aim to restore these levels. Early trials suggest they may boost energy metabolism and reduce fatigue.
  • Antioxidant therapies: Because damaged mitochondria produce harmful reactive oxygen species (ROS), antioxidants can help limit that damage. Idebenone, vatiquinone (EPI-743), and sonlicromanol (KH176) are being tested for their ability to protect cells and support energy production. Idebenone has already shown benefit for vision in some people with Leber hereditary optic neuropathy.
  • Supporting blood flow and oxygen delivery: In certain mitochondrial syndromes like MELAS, supplements such as L-arginine and L-citrulline
     may help widen blood vessels, improving circulation and reducing the risk of “stroke-like” episodes.
  • Modulating energy-sensing pathways: Drugs that act on the mTOR pathway (like rapamycin and everolimus) are showing benefits in laboratory models by reducing inflammation and improving energy balance.
  • Protecting mitochondrial structure: Elamipretide (SS-31) helps stabilize the membranes that hold mitochondria together, protecting them from damage. Some clinical studies show better muscle function and less fatigue, while others found only modest changes, highlighting the complexity of these conditions.
  • Nucleoside replacement:In a few rare forms of mitochondrial DNA depletion (such as TK2 deficiency), therapy with building-block molecules called deoxynucleosides has helped restore mitochondrial DNA and improve survival.
  • Gene Therapies: Researchers are also exploring gene therapies that target the faulty gene itself. The majory of these approaches are experimental and are still early in development

In total, more than 30 clinical trials around the world are now testing therapies like these. None are yet curative, but the variety and sophistication of approaches reflect remarkable momentum. The field is moving from managing symptoms to targeting the root causes of mitochondrial dysfunction, an extraordinary step forward for patients, families, and researchers alike.

What does this mean for mitochondrial disease research?

This review marks an exciting turning point for mitochondrial medicine. For many years, research focused mainly on diagnosing and describing how mitochondrial diseases work. Now, the field is moving beyond understanding the problem, scientists are testing real treatments designed to fix it.

The authors emphasize that the road ahead still requires close teamwork across the globe. Researchers need better tools to study these diseases, including reliable biomarkers that show how the body responds to treatment, and agreed-upon outcome measures that make it easier to compare results between studies. Creating stronger animal models will also help scientists test therapies safely before they reach patients.

Just as important, progress will depend on collaboration, not only between scientists and clinicians, but also with patients, families, and advocacy organizations, like MitoCanada. Well-organized patient registries and international trial networks are key to making rare disease research faster, more efficient, and more inclusive. By working together, the global mito community is transforming years of discovery into a future filled with real treatment possibilities

The research in simple terms

This paper brings together everything scientists currently know about treating mitochondrial disease, from long-used vitamins and dietary strategies to the newest molecular and gene-based therapies being tested in clinics today. It highlights just how far the field has come since the first mitochondrial disorders were described in the 1960s.

While there’s still no single cure, the pace of progress is accelerating. Researchers are learning from both successes and setbacks, building on decades of discovery to design smarter, more targeted therapies. Just as importantly, the paper reflects the growing collaboration among scientists, clinicians, patients, and families, all working together to transform complex research into meaningful, real-world care.

At its heart, this is a story of perseverance and partnership: of a community united by determination to change what’s possible for people living with mitochondrial disease.

Why this matters to the MitoCommunity?

For those living with mitochondrial disease, and for everyone who supports them, this research represents hope backed by evidence. It shows that the global mito community is moving forward together: researchers exploring new frontiers, clinicians testing innovative treatments, and patient advocates ensuring that lived experiences shape every step of progress.

Each study like this adds another piece to the puzzle, helping to build a clearer picture of how to repair, protect, and strengthen the body’s energy-producing cells. These discoveries don’t just aim to extend life, they strive to improve how people live day to day, enhancing energy, independence, and connection.

The paper also reminds us how vital community participation is. Joining registries, contributing to research, and sharing personal stories all help guide future priorities and accelerate breakthroughs. And for donors and partners, it underscores a powerful truth: every investment in mitochondrial research moves us closer to a world where all lives are powered by healthy mitochondria.

Acknowledgment

The authors’ work reflects the incredible progress being made through collaboration across continents, disciplines, and generations of researchers. Their dedication not only advances the science of mitochondrial medicine but also fuels hope for families around the world. Every study like this brings us one step closer to a future where mitochondrial disease can be better understood, treated, and ultimately prevented.

This MitoInsights was reviewed and approved by a member of or members of this publications authorship.

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15 Stories for 15 Years: Meet Rose and Richelle

As we celebrate 15 years of MitoCanada, we’re sharing the stories of those who make this community so special. Today, we’re sharing the story of Richelle Love and Rose Serpico from Calgary, Alberta.

Richelle and Rose are the powerhouse duo behind Tri-It Multisport, Canada’s most comprehensive triathlon store, and RnR Premier Events, a leading race and event company known for organizing epic running and multisport events, plant-based races, and next-level experiences that bring people together. They’ve been nationwide leaders in the triathlon, health, and wellness community for nearly two decades, and their connection to MitoCanada runs deep.

For Richelle, it was Rose who first opened the door. “It’s really Rose who got me involved with MitoCanada and her vision to start the spinathon, and then a few years later turn it into the MitoCanada Spinathon,” she shares. “Rose and Blaine Penny (MitoCanada’s co-founder) have a very close relationship and she really turned this into something incredible!”

Richelle immediately felt connected to the cause. “Having known the Penny family, I jumped at the opportunity,” she says. “It felt incredibly important to support families like the Pennys and to help make a meaningful difference in the lives of those affected by mitochondrial disease. That connection and purpose are what drew me in, and what continues to inspire me today.”

Over the years, Richelle has supported MitoCanada in countless ways: delivering the MitoCanada Spinathon as an organizer, coach, and volunteer, running an ultra-marathon to raise funds and awareness, volunteering at several other MitoCanada events, and championing the cause through Tri-It Multisport, as the company has proudly contributed through sponsorship, community engagement, and ongoing event support. “Together, we’ve been able to help amplify MitoCanada’s mission and bring people together in a powerful way,” she says. “Being part of MitoCanada means being part of something bigger: empowering people to move their bodies, share their stories, and create meaningful change. Seeing participants knowing they’re making a difference and hearing families express what that support means to them is incredibly inspiring. It’s those moments that are full of connection and purpose that make putting on this event truly rewarding.”

For Richelle, the MitoCommunity is at the heart of it all. “This is truly one of the most inspiring and uplifting communities I’ve ever been part of,” she says. “The moment you get involved, you’re welcomed with open arms. You’re not just supporting a cause, you become part of the MitoFamily.”

For Rose, the connection began with purpose. “When we opened our retail store and launched our event business almost 20 years ago, we knew that giving back mattered just as much as business growth. We wanted to create impact locally and nationally,” she says.

Meeting Blaine Penny changed everything. “It was immediately clear that he shared the same purpose-driven vision,” says Rose. “Once we saw how dedicated and passionate the small group behind MitoCanada was, and how tirelessly they were working to build momentum and raise awareness, we knew we wanted to be part of that journey. It felt like the right place to put our energy, and it has truly been amazing.”

Over the last 15 years, Rose and Richelle have supported MitoCanada through fundraising events, volunteer work, and countless hours poured into the MitoCanada Spinathon and other initiatives. “Any time we organized a fundraising event, we set a goal, and if we fell short, we personally contributed to ensure we reached it,” Rose says. “We’ve always operated as volunteers, and 100% of the proceeds have gone directly back to MitoCanada.”

For Rose, the most rewarding part has been the people. “As a mother and grandmother, I’m continually humbled by the strength, love, and resilience of the families affected by mitochondrial disease,” she says. “They show up even in the hardest moments and continue to give back, support one another, and raise awareness. Their courage and heart are inspiring, and being part of this community has given me far more than I could ever give in return.”

Rose’s message to the MitoCommunity is simple and powerful: “Thank you for leading with strength, compassion, and unwavering commitment,” she says. “You continue to show up, share your stories, build connections, and support one another. That effort creates real, lasting change. We are committed to continuing this work alongside you — helping raise awareness, share your message, and support the ongoing research and advocacy needed.”

We’re grateful to Richelle and Rose for inspiring our MitoCommunity through their passion, leadership, and unwavering dedication to MitoCanada.

Join us in fuelling the next 15 years. Every donation helps us continue this vital work and create a future where no one faces mito alone.

Be part of the journey. Donate today:

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Signs, Symptoms and Health-Related Quality of Life in MELAS

Science moves fastest when everyone can take part. That’s why MitoCanada is committed to empowering our community with knowledge. By translating cutting-edge mitochondrial research into clear, easy-to-understand summaries, we aim to nurture curiosity, strengthen understanding, and build confidence in the science driving hope and progress.

Lay Summary: Signs, symptoms and health-related quality of life in MELAS: measuring what’s important from the patient and clinician perspectives.

Authors:

Paolo Medrano*, Benjamin Banderas, Marisa Brimmer, Lily Settel, Sari Berger, Alan Shields, Amy Goldstein, Amel Karaa, Austin Larson, Sumit Parikh, Fernando Scaglia, Karra Danyelle Harrington, Chris James Edgar, Pamela Ventola, Matthew Webster, Jennifer Chickering, Chad Gwaltney, Phebe Wilson, and Chad Glasser.

What’s this research about?

This study focuses on mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS), a rare genetic condition caused by changes in mitochondrial DNA that disrupt how cells make energy. MELAS often affects organs that need lots of energy, like the brain and muscles, leading to symptoms such as seizures, stroke-like episodes, fatigue, hearing loss, and memory problems.

While many scientific papers describe MELAS from a clinical or biological standpoint, few have explored what it’s actually like to live with this disease. To fill that gap, researchers from the U.S. conducted in-depth interviews with both expert clinicians and adults living with MELAS. Their goal was to understand the most important symptoms, life impacts, and daily challenges from the patient’s perspective, and to identify which aspects of the condition matter most when designing future treatments and clinical trials.

Why is this important?

For people with MELAS, medical progress has long been limited by a lack of treatments and by how little patient experience was captured in research. By directly asking patients to describe their symptoms, limitations, and quality of life, this study ensures that future therapies and outcome measures reflect what truly matters, not just what can be measured in a lab.

Importantly, regulatory agencies like the FDA and EMA now encourage patient-reported outcomes in rare-disease research. Understanding how MELAS affects physical, emotional, and cognitive well-being helps researchers design more meaningful clinical trials and better tools to measure improvement over time.

How did they study this?

The study was carried out in two phases. First, researchers interviewed five clinicians with years of experience treating mitochondrial diseases. These experts described the range of symptoms and life impacts they observe in MELAS and provided input on whether patients could reliably share their own experiences.

Next, the researchers conducted 45–60 minute interviews with 16 adults living with MELAS, all of whom had the common m.3243A>G variant. Participants were asked to describe their signs, symptoms, and how MELAS affects their daily lives, work, and emotions.

All interviews were recorded, transcribed, and analyzed for recurring themes. Researchers looked for saturation (the point where no new information emerges) to confirm that the sample size captured the full scope of patient experience. Ultimately, 35 unique symptoms and 68 life-impact themes were identified across 15 categories.

What did they find?

1. The most common and burdensome symptoms

Patients most frequently described:

  • Physical fatigue (94%): a deep, unrelenting tiredness that goes beyond sleepiness.
  • Hearing loss (81%): often requiring hearing aids or cochlear implants.
  • Mental fatigue (75%): feeling mentally “drained” and unable to concentrate.
  • Exercise intolerance and memory problems (69% each): struggling with stamina, word-finding, or remembering everyday details.

Many patients described fatigue as “hitting a wall,” suddenly running out of energy even during small tasks like walking or cooking. Memory issues, brain fog, and speech difficulties were also major sources of frustration and anxiety.

2. The biggest life impacts

The most affected areas of life were:

  • Adaptive behaviours: needing mobility or hearing aids, or adjusting eating habits.
  • Work and independence: half of participants were unable to work due to fatigue and cognitive difficulties.
  • Emotional well-being: feelings of frustration, sadness, and anxiety were common.

Patients often described how fatigue and cognitive issues limited their ability to work, socialize, and care for themselves, turning routine activities into daily challenges.

3. Clinician vs. patient perspectives
Clinicians tended to emphasize acute, organ-specific symptoms (like seizures or stroke-like episodes), while patients highlighted chronic, ongoing problems such as fatigue, mental exhaustion, and memory loss. This difference underscores why patient-reported data are essential, they reveal the lived reality behind the medical picture.

What does this mean for mitochondrial disease research?

This study provides one of the most detailed portraits to date of what it’s like to live with MELAS. It confirms that patients can meaningfully self-report their symptoms, even when experiencing fatigue or cognitive impairment, and that their insights are crucial for designing effective treatments.

The findings also call attention to the need for new clinical trial measures that better capture fatigue, cognition, and daily function. By focusing on what patients identify as most impactful, future therapies can be designed to target the symptoms that truly limit independence and quality of life.

Finally, the study highlights the power of partnership between clinicians, researchers, and patient communities, to drive forward the next phase of progress in mitochondrial medicine.

The research in simple terms

This research asked people living with MELAS to share their honest experiences, how the disease affects their energy, memory, emotions, and daily lives. Their stories reveal that fatigue and cognitive struggles are at the heart of the condition. By documenting these experiences, the study ensures that the patient voice shapes how treatments are measured and developed in the future.

Why this matters to the MitoCommunity?

For families affected by MELAS, this research is a reminder that every lived experience has value in shaping scientific progress. It shows that the global mito community, from patients and caregivers to researchers and clinicians, is united in building knowledge that leads to better care and, one day, effective treatments.

It also demonstrates how important patient participation is. Joining registries, participating in studies, contributing to interviews, and sharing experiences helps researchers understand the true impact of mitochondrial disease, and speeds the path to new therapies.

Acknowledgment

This study publication was co-authored by Paolo Medrano, Benjamin Banderas, Marisa Brimmer, Lily Settel, Sari Berger, Alan Shields, Amy Goldstein, Amel Karaa, Austin Larson, Sumit Parikh, Fernando Scaglia, Karra Danyelle Harrington, Chris James Edgar, Pamela Ventola, Matthew Webster, Jennifer Chickering, Chad Gwaltney, Phebe Wilson, and Chad Glasser, and published in the Journal of Patient-Reported Outcomes (2025).

Their work stands as an important milestone in mitochondrial research, one that reminds us that understanding begins by listening. By elevating patient voices, this team has brought the lived experience of MELAS to the forefront of scientific progress, helping ensure that future research measures what truly matters most to those living with the disease.

This MitoInsights was reviewed and approved by a member of or members of this publications authorship.

Explore the orginial publication or download our layperson article today:

Do you have a question about this article? If so, we’d like to hear from you. Please send us an email!

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15 Stories for 15 Years: Meet John Fisher

As we celebrate 15 years of MitoCanada, we’re sharing the stories of those who make this community so special. Today, we’re sharing the story of John Fisher from Mississauga, Ontario.

When John Fisher was diagnosed with mitochondrial myopathy in 1982, which he notes he probably had since he was 6 or 7 years old, he was told he was one in a million.

The words stayed with John. They made him feel unique, but also isolated. His diagnosis was confirmed by Dr. Humphrey, and during that same period, Dr. Crawford, an ophthalmologist at SickKids, performed a surgery to attach his eyelids to his eyebrow muscles to keep them from drooping again. Later, John learned the condition he had was called chronic progressive external ophthalmoplegia (CPEO).

For years, he lived with that diagnosis on his own. “I’ve faced misunderstanding, ignorance, and even discrimination because of how I look and sound. Physically, I couldn’t always do things to the level I wanted, especially in sports or activities that required strength. But I learned to adapt, and I’ve done quite well,” says John. Living with mito for over 40 years has given John a deep understanding of its challenges, but also of the resilience it takes to live well in spite of them.

As time went on, John began to realize that his condition wasn’t as rare as he had once been told. Through his neurologist, Dr. Mark Tarnopolsky, and his own research, he started learning more about mitochondrial disease. That’s how John found MitoCanada, and, “how I connected with Kate Murray. It was her passion for this cause and her relentless advocacy for the MitoCommunity that inspired me to get involved,” shares John. He became a monthly donor because he wanted to help fuel that energy and make a difference wherever he could.

What stands out most to John about MitoCanada is the sense of community. When he was first diagnosed, there was no one to talk to. It took him 40 years to have a real conversation with someone else living with mito. John shares, “Now, thanks to MitoCanada, people have a place to turn, share experiences, find understanding, and know they’re not alone. That means a lot to me.”

John doesn’t give for his own benefit anymore. He gives for others, for the newly diagnosed, for families still searching for answers, and for those who might not have the strength or the voice to advocate for themselves. John finds comfort in knowing that his monthly gift helps MitoCanada do work to educate, to connect, and to push for better care and understanding.

John says, “I believe deeply in the human spirit and in the power of generosity. As Jack Welch, founder of my MBA program, used to say, we need ‘every brain in the game,’ and we all carry a ‘generosity gene’ that should be used more often.” To John, MitoCanada embodies both ideas. He believes it’s a place where compassion, knowledge, and action come together to make life better for everyone touched by mitochondrial disease.

Looking ahead, John hopes his support helps MitoCanada continue to grow, by expanding the patient registry, by building networks of specialists who truly understand mito, by ensuring mental health care is part of the conversation, and by showing that mito doesn’t only affect children, it affects people of all ages and walks of life.

John shares, “After 40 years, I no longer feel like one in a million. I’m one of many, part of a community that understands, supports, and believes in each other. That’s what MitoCanada has given me.”

We’re grateful to John for inspiring our MitoCommunity by sharing his journey and dedication to MitoCanada.

Join us in fuelling the next 15 years. Every donation helps us continue this vital work and create a future where no one faces mito alone.

Be part of the journey. Donate today:

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Population-Based Study of Mitochondrial Disease and Mental Health Conditions in Ontario, Canada

Science moves fastest when everyone can take part. That’s why MitoCanada is committed to empowering our community with knowledge. By translating cutting-edge mitochondrial research into clear, easy-to-understand summaries, we aim to nurture curiosity, strengthen understanding, and build confidence in the science driving hope and progress.

Lay Summary: Population-Based Study of Mitochondrial Disease and Mental Health Conditions in Ontario, Canada

Authors:

Rosella, L. C., Hurst, M., Buajitti, E., Samson, T., Young, L. T., & Andreazza, A. C.

What’s this research about?

This ground-breaking study explored how often mental health conditions, such as anxiety, depression, and substance use disorders, occur among people living with mitochondrial disease in Ontario, Canada. It also looked at how these mental health conditions affect hospital visits, healthcare use, and the overall cost of care.

To help interpret the results, the researchers compared the mitochondrial disease group with another chronic neurological condition, multiple sclerosis (MS), which is known to have high healthcare needs and is often associated with mental health challenges.

In this study, led by Dr. Laura C. Rosella, Dr. Ana C. Andreazza, and Dr. L. Trevor Young, researchers used population-wide health data from Ontario to reveal that people living with mitochondrial disease experience significantly higher rates of mental health conditions and healthcare use, highlighting the need for more integrated physical and mental health care.

Why is this important?

Until now, there has been very little data on how mitochondrial disease and mental health intersect on a large scale. While individual studies and patient experiences have shown that mitochondrial dysfunction can affect the brain and contribute to mental health challenges, population-wide research hadn’t been done.

Understanding these patterns is crucial for improving care. People with mitochondrial disease often face complex health challenges, and if mental health concerns are common and overlooked, patients may experience worse health outcomes and greater barriers to care. This research helps healthcare systems recognize those needs so they can offer more holistic, compassionate, and effective support.

How did they study this? 

The research team used Ontario’s provincial healthcare databases, which record information from hospitals, emergency departments, and physician visits.

They identified 1,495 people who had been hospitalized at least once for mitochondrial disease between 2005 and 2019. For comparison, they also studied 8,482 people hospitalized for multiple sclerosis during the same period.

By securely linking health data across different sources, the researchers were able to see:

  • Whether a person had been treated for a mental health condition within the three years before their mitochondrial diagnosis
  • How often patients visited hospitals, emergency departments, or doctors
  • How much their healthcare cost before and after their diagnosis

This approach allowed the researchers to see big-picture trends across the entire province, rather than relying on individual clinics or small samples.

What did they find?

The results were striking. People living with mitochondrial disease were twice as likely to have a mental health condition as those with MS:

  • 18% of the mitochondrial group had a mental health condition
  • 9% of the MS group did

Among mitochondrial patients, the most common mental health challenges were:

  • Substance-related disorders (52%)
  • Mood or affective disorders, such as depression or bipolar disorder (32%)
  • Anxiety and adjustment disorders (29%)

Healthcare use was also much higher for people with both mitochondrial disease and mental illness. Nearly half (49%) of these patients were hospitalized within one year, compared to only 12% of MS patients without a mental health condition.

Costs told a similar story. Mitochondrial disease patients with mental health conditions had the highest healthcare costs of all groups, both before and after their diagnosis, showing just how significant the burden of care can be for these individuals and families.

What does this mean for mitochondrial disease research?

This is the first-ever population-wide study to confirm that mental health conditions are common and impactful among people with mitochondrial disease.

The findings highlight that mental health and mitochondrial health are deeply connected. This connection likely reflects how mitochondrial dysfunction in brain cells can affect neurotransmitters, chemicals that regulate mood, energy, and cognition.

For researchers and clinicians, this study emphasizes the urgent need for:

  • Integrated care that addresses both physical and mental health
  • Better screening and support for depression, anxiety, and substance use
  • More awareness and training for healthcare providers so they can recognize and treat these issues early

For the mitoCommunity, it validates what many families have long known, that the emotional and psychological toll of mitochondrial disease deserves the same attention and resources as the physical symptoms.

The research in simple terms

This study shows that people with mitochondrial disease are more likely to experience mental health conditions and that these challenges lead to higher hospital use and medical costs. It paints a clearer picture of how big the problem is and helps make the case for more comprehensive care and support.

Why do this matter to the MitoCommunity?

This research is a powerful step forward in recognizing the whole person behind the diagnosis. It tells healthcare systems, and the world, that mitochondrial disease affects not just muscles and organs, but also mental health and emotional wellbeing.

For patients and caregivers, it reinforces that mental health challenges are common and deserve compassion, understanding, and access to care. For advocates, it provides valuable data to push for better mental health services and integrated supports for mito families.

Acknowledgment

This important study was led by Dr. Laura C. Rosella, Dr. Ana C. Andreazza, and Dr. L. Trevor Young, with contributions from Mackenzie Hurst, Emmalin Buajitti, and Thomas Samson. Their work was supported by the Mitochondrial Innovation Initiative (MITO2i) at the University of Toronto, the Thomas Zachos Chair, and the MitoCanada Foundation. The research was published in Orphanet Journal of Rare Diseases in 2025.

Explore the orginial publication or download our layperson article today:

Do you have a question about this article? If so, we’d like to hear from you. Please send us an email!

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Silencing Mitochondrial Gene Expression in Living Cells

Science moves fastest when everyone can take part. That’s why MitoCanada is committed to empowering our community with knowledge. By translating cutting-edge mitochondrial research into clear, easy-to-understand summaries, we aim to nurture curiosity, strengthen understanding, and build confidence in the science driving hope and progress.

Lay Summary: Silencing Mitochondrial Genes Expression in Living Cells

Authors:

Luis Daniel Cruz-Zaragoza, Drishan Dahal, Mats Koschel, Angela Boshnakovska, Aiturgan Zheenbekova, Mehmet Yilmaz, Marcel Morgenstern, Jan-Niklas Dohrke, Julian Bender, Anusha Valpadashi, Kristine A. Henningfeld, Silke Oeljeklaus, Laura Sophie Kremer, Mirjam Breuer, Oliver Urbach, Sven Dennerlein, Michael Lidschreiber, Stefan Jakobs, Bettina Warscheid, Peter Rehling.

What’s this research about?

Mitochondria are often called the “powerhouses” of our cells because they produce the energy that keeps every tissue and organ working. To do this, mitochondria rely on tiny instructions written in their own set of genes, separate from the genomic DNA in the cell’s nucleus. These mitochondrial genes encode a small number of essential proteins that help the cell turn oxygen and nutrients into usable energy.

For years, scientists have wanted to study what happens when specific mitochondrial genes are turned off, but this has been nearly impossible to do inside living cells. Traditional gene-editing tools, like CRISPR, don’t easily work in mitochondria. This has made it hard to understand how mitochondrial genes interact with the rest of the cell, and what goes wrong when they stop working properly.

In this study, led by Dr. Luis D. Cruz-Zaragoza, Peter Rehling, and colleagues, researchers developed a new way to temporarily “silence” or switch off individual mitochondrial genes inside living cells, giving researchers a powerful new tool to study mitochondrial function in real time.

Why is this important?

Understanding how mitochondria regulate their own genes is crucial to understanding many human diseases. Issues with mitochondrial gene expression, the process where genes produce the proteins vital for energy production, are associated with serious conditions that can impact the brain, muscles, heart and other organs.

Until now, researchers could only study mitochondrial genes indirectly, often using isolated mitochondria or models that didn’t entirely reflect how cells work in real life. This new method allows researchers to study the process as it happens in living cells, offering a more accurate view of how mitochondria communicate with the rest of the cell and respond when things go wrong.

By helping researchers look closely at the timing, coordination, and response of cells when mitochondrial genes are disrupted, this approach brings research a step closer to understanding the biological roots of mitochondrial disorders.

How did they study this?

The researchers designed small, custom-built molecules called peptide-morpholino chimeras. A chimera refers to entities that have components  from two or more different sources. For example, in research, scientists create cellular and molecular chimeras.

In this study, each chimera combines two parts: a “delivery tag” that helps it enter mitochondria, and a genetic “message blocker” that attaches to a specific piece of mitochondrial RNA, the molecule that carries genetic instructions from DNA to make proteins.

When these chimeras were introduced into human cells grown in the lab, they successfully traveled into mitochondria and attached to their target RNAs. This prevented the selected gene from producing its protein, effectively silencing that gene. The researchers could then observe how the cell responded over time.

They tested the tool on several mitochondrial genes that are part of the oxidative phosphorylation (OXPHOS) system, the machinery responsible for producing energy. By switching off these genes one at a time, they tracked how each change affected the cell’s metabolism, protein production, and communication between mitochondria and the nucleus.

What did they find?

The new tool worked reliably and specifically. It could silence targeted mitochondrial genes within hours, and the effect lasted for several days. When certain genes were turned off, the researchers observed clear changes in the mitochondria’s ability to produce energy. Importantly, the tool only affected the targeted genes, it didn’t interfere with unrelated parts of the cell.

When the team silenced genes responsible for the energy-producing complexes (called complexes I, III, IV, and V), they observed a decrease in activity in those complexes, confirming that the silencing was accurate. They also discovered that when one mitochondrial gene stopped functioning, it triggered specific responses in the nucleus, showing how closely connected these two genetic systems are.

Over time, they were able to watch how mitochondria adjusted to the loss of certain proteins and even identified new helper proteins that may assist in assembling and maintaining the energy complexes.

What does this mean for mitochondrial disease research?

This study doesn’t present a therapy or treatment, but it offers a powerful new research tool. By making it possible to silence specific mitochondrial genes in living cells, scientists can now explore how mutations or defects in these genes lead to disease.

This could enhance how researchers model mitochondrial diseases in the lab, assit them in studying how cells respond to mitochondrial stress, and identify new molecular players involved in energy production. Over time, these insights could influence future strategies for understanding, and eventually treating mitochondrial dysfunction.

The research in simple terms

The researchers found a way to temporarily turn off single mitochondrial genes inside living cells. This lets them see what happens when specific genes stop working, helping to uncover how each one contributes to making cellular energy. It’s a bit like being able to unplug one wire in a complex electrical system to see exactly what that wire controls.

Why do this matters to the MitoCommunity

For people and families affected by mitochondrial disease, this kind of research builds the foundation for future progress. By improving the tools used to study mitochondria, researchers can make faster, more accurate discoveries about how these tiny energy producers function and fail.

While this research doesn’t directly lead to a treatment, it makes the science more precise, and that precision is what helps move the field forward. Every step that helps researchers understand the “how” and “why” behind mitochondrial function brings us closer to better diagnostics, improved disease models, and, someday, targeted therapies

Acknowledgment

This research was led by Dr. Luis D. Cruz-Zaragoza (Université de Sherbrooke) and Peter Rehling (University Medical Center Göttingen) in collaboration with the research groups of Michael Lidschreiber (Max Planck Institute for Multidisciplinary Sciences, MPI-MS), Stefan Jakobs (MPI-MS and Fraunhofer Institute for Translational Medicine and Pharmacology), and Bettina Warscheid (University of Würzburg). Together, their work represents a major collaborative effort to expand the scientific tools available for studying mitochondrial gene function in living cells.

This MitoInsights was reviewed and approved by a member of or members of this publications authorship.

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Mitochondrial-Targeted Therapy Prevents Early Onset Muscle Weakness in Ovarian Cancer

Science moves fastest when everyone can take part. That’s why MitoCanada is committed to empowering our community with knowledge. By translating cutting-edge mitochondrial research into clear, easy-to-understand summaries, we aim to nurture curiosity, strengthen understanding, and build confidence in the science driving hope and progress.

Lay Summary: Mitochondrial-Targeted Therapy Prevents Early Onset Muscle Weakness in Ovarian Cancer

Authors:
Luca J. Delfinis¹†, Shahrzad Khajehzadehshoushtar¹†, Luke D. Flewwelling¹, Nathaniel J. Andrews¹, Madison C. Garibotti¹, Shivam Gandhi¹, Aditya N. Brahmbhatt¹, Brooke A. Morris¹, Bianca Garlisi², Sylvia Lauks², Caroline Aitken², Leslie Ogilvie⁴, Stavroula Tsitkanou³, Jeremy A. Simpson⁴, Nicholas P. Greene³, Arthur J. Cheng¹, Jim Petrik², and Christopher G.R. Perry¹*

What’s this research about?

This study explored how mitochondrial health affects muscle strength during cancer, and whether a special antioxidant therapy could protect muscles from weakening. The research team focused on ovarian cancer, which often causes cachexia, a condition where muscles waste away, leading to fatigue, weakness, and poor quality of life.

But the scientists made an important discovery: muscle weakness actually starts before muscles shrink or lose size. That means something other than muscle loss, such as mitochondrial dysfunction, might be the early cause of this weakness.

What are mitochondria and why do they matter?

Mitochondria are the “power houses” inside our cells. They generate the energy (ATP) that our muscles need to contract and function. When they’re damaged or stressed, as often happens in cancer, they can produce too many reactive oxygen species (ROS), or “free radicals.” These molecules can damage cells and lead to fatigue and weakness.

The big question

Can improving mitochondrial health before muscle loss occurs protect strength in people with cancer?

How did they study this?

The research team used a mouse model (a research method using mice that share important biological similarities with humans) of ovarian cancer that closely mimics how the disease progresses in humans. They treated some mice with a compound called SkQ1, a mitochondria-targeted antioxidant that acts like a shield inside the mitochondria, reducing oxidative stress and helping mitochondria function better.

They tested:

  • Muscle strength in both the legs and the diaphragm (breathing muscle)
  • Mitochondrial energy production and oxygen use
  • Signs of inflammation and oxidative stress

What did they find?

  • Muscle weakness happened early, even before the muscles showed signs of shrinking (atrophy).
  • SkQ1 helped preserve muscle strength in both early and late stages of cancer.
  • SkQ1 did not stop muscle loss, but it made muscles stronger and more efficient despite atrophy.
  • The therapy improved calcium handling inside muscle cells, helping them contract properly. Calcium handling refers to how muscle cells control the movement of calcium, an essential mineral that acts like an on/off switch for muscle contraction.
  • The positive effects were linked to healthier mitochondria, less oxidative stress and more stable energy metabolism.

In short, SkQ1 helped keep muscles “powered up” longer, even while cancer progressed.

Why is this important?

This is one of the first studies to show that muscle weakness and muscle wasting are not the same thing, and that mitochondria play a key role in strength loss during cancer.

By targeting mitochondria directly, scientists may be able to:

  • Delay or reduce early weakness that affects mobility and breathing
  • Improve quality of life for people living with cancer
  • Potentially make the body more resilient during cancer treatment

What could this mean for future therapies?

The findings highlight mitochondria as a promising therapeutic target for cancer-related muscle weakness.
If similar results can be confirmed in humans, mitochondrial-targeted therapies like SkQ1 (or similar compounds such as MitoQ and SS-31) could one day:

  • Help people maintain strength and independence during cancer
  • Complement existing treatments
  • Improve recovery and energy balance in other diseases linked to mitochondrial dysfunction

 In simple terms

Cancer doesn’t just cause muscles to shrink, it makes them weak by hurting their mitochondria first. This research shows that by protecting the mitochondria early, we might keep muscles stronger for longer, even in the face of disease.

Why this matters to the MitoCommunity

This study deepens our understanding of how mitochondrial dysfunction contributes to weakness and fatigue, symptoms shared by people with mitochondrial disease. It reinforces that muscle health depends on mitochondrial health, and that therapies aimed at stabilizing mitochondrial function can have far-reaching benefits, not just for cancer patients but for anyone affected by energy metabolism disorders.

For the MitoCommunity, this research offers hope that the same principles, protecting mitochondria to preserve strength and energy, could one day be applied to treating mitochondrial diseases directly.

Acknowledgment

This research was led by Dr. Christopher G.R. Perry at York University’s Muscle Health Research Centre, with contributions from Luca J. Delfinis, Shahrzad Khajehzadehshoushtar, Dr. Jim Petrik, Dr. Nicholas Greene, and colleagues from York University, the University of Guelph, and the University of Arkansas.

Their collaborative work provides new insight into how protecting mitochondrial health can help preserve muscle strength during cancer progression, deepening scientific understanding of the relationship between mitochondrial function and muscle health.

This MitoInsights was reviewed and approved by a member of or members of this publications authorship.

Explore the orginial publication or download our layperson article today:

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15 Stories for 15 Years: Meet Kailey Danks

As we celebrate 15 years of MitoCanada, we’re sharing the stories of those who make this community so special. Today, we’re sharing the story of Kailey Danks from Ajax, Ontario.

Kailey lives in Ajax with her husband and two kids. Her diagnosis journey began in childhood and stretched over seven years, finally leading to a general mitochondrial disease diagnosis after a muscle biopsy. ⁠

“Receiving a mitochondrial disease diagnosis is scary and challenging,” she shares. “With my condition I’ve experienced ptosis (droopy eyelid) and have had four surgeries along with vision loss, chronic pain, respiratory issues, and muscle weakness. But I really appreciate the support and resources I’ve accessed through MitoCanada.”

A pivotal moment came when Kailey connected with Dr. Mark Tarnopolsky and received a diagnosis of CPEO+. In his office, she noticed a poster about MitoCanada, and that connection changed everything.⁠

Through MitoCanada, Kailey became a peer support volunteer and attended the very first mitochondrial disease conference in Canada. She was also provided financial support to attend the UMDF conference in the U.S. “These conferences were life-changing for me as I met others with similar experiences and felt connected and supported,” she says.

Today, Kailey is proud to serve as a MitoCanada mitoAmbassador. “I’m very happy that I’ve just accepted this role,” she says. “I’m looking forward to sharing my story and raising awareness about MitoCanada and mitochondrial disease within my community.”

We’re grateful to Kailey for her courage, her advocacy, and her inspiring commitment to supporting others in the MitoCommunity.

Join us in fuelling the next 15 years. Every donation helps us continue this vital work and create a future where no one faces mito alone.

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15 Stories for 15 Years: Meet Kim Good

As we celebrate 15 years of MitoCanada, we’re sharing the stories of those who make this community so special. Today, we’re highlighting Kim Good and Angelina, Free Spirit Woman of the Eagle Clan

Born on June 1, 2003, Angelina Good was a fighter from the start. Born at 32 weeks because her mom, Kim, was diagnosed with placenta previa, she spent her first two months in hospital. Angelina was born deaf in one ear, but she never let challenges hold her back. She loved animals, camping, fishing, horseback riding, soccer, skating, art, crafts, writing short stories, reading, and celebrating her Métis heritage. Horses, especially, made her feel “free and happy.” Friends and family often described her as “an old soul.”

“Angelina had a happy and mostly normal childhood,” says Kim. “She did have many health issues that we now believe were misdiagnosed, misunderstood, and undiagnosed.”

In 2017, Angelina had her first seizure, followed by a stroke the next year that left her wheelchair-bound. “We were all shocked and distraught because we had no idea what was happening or how to help her,” says Kim. “We were helpless and clueless, and our hearts shattered. She went from being an independent teenager to requiring someone with her 24/7. Her big sister Leah stepped in to help raise and care for Angelina, especially during times when I faced health issues.”

After initially being misdiagnosed with epilepsy, Angelina was eventually diagnosed with MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) by Dr. Samantha Marin, a Winnipeg-based pediatric neurologist and member of MitoCanada’s Research and Clinical Advisory Committee.

For Kim and her family, the diagnosis brought heartbreak, and while it did bring some answers, it also brought more questions. “We had never heard of this disease,” says Kim. “We’ve come to learn that MELAS is a rare, maternally inherited mitochondrial disorder that affects the nervous system and muscles. It’s characterized by lactic acidosis, stroke-like episodes, and encephalopathy (brain dysfunction). But what exactly did that mean for her, and for us as her caregivers and family?”

In 2019, Dr. Marin suggested they reach out to MitoCanada, which helped the family attend the fall mitoConference, co-hosted by MitoCanada and MitoNet in Toronto, Ontario. “It was overwhelming, but we came home with loving connections and a wealth of knowledge,” Kim says. “We also received guidance and information for other family members. Because of our warrior Angelina, our family now has knowledge to share for generations to come. I was adopted as a baby, so I grew up without access to my biological family’s medical history. That made Angelina’s journey to diagnosis even more complex, since we had no history to help connect the dots. As an adult, I reconnected with my birth family and discovered that many of my relatives had health issues that were likely misdiagnosed. Earlier this year, my older sister was formally diagnosed with MELAS, which confirms that this disease runs through my maternal line. Now I’ve been able to share this vital information with relatives across Canada, helping them seek proper diagnoses and care. This disease truly affects my entire family.”

Just three months before her passing in February 2025, Angelina received her spirit name, Free Spirit Woman of the Eagle Clan, in a powerful moment that reflected her Métis heritage. “She embraced this wholeheartedly,” says Kim.

Kim continues to raise awareness in Angelina’s honour: lighting up her balcony with bright green lights for World Mitochondrial Disease Week, wearing two custom mito T-shirts her oldest daughter had made for her and a mito pendant necklace she won in a MitoCanada social media giveaway (“People always ask what it means,” she says), and sharing the message she wants every family to hear: “You are not alone. It is a long, tough battle, but you are not alone.” She works hard to spread awareness however she can. “MitoCanada makes it easy with their website, social media, and events,” she adds. “MitoCanada and the MitoCommunity have been there through some of the hardest times, always providing a reply, an ear to listen, and new and hopeful information.”

We’re grateful to Kim and her family for their courage and for inspiring our MitoCommunity by sharing Angelina’s story and spirit. Kim also shares that Leah helped write Angelina’s story, ensuring her sister’s spirit lives on through her words.

Join us in fuelling the next 15 years. Every donation helps us continue this vital work and create a future where no one faces mito alone.

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15 Stories for 15 Years: Meet Jayda Back

As we celebrate 15 years of MitoCanada, we’re sharing the stories of those who make this community so special. Today, we’re highlighting Jayda Back and her son, mighty Decklan!

Jayda is the proud mom of a remarkable 12-year-old boy living with mitochondrial disease. Decklan was diagnosed with Leigh syndrome at the age of five — a diagnosis that, as Jayda describes, “rocked our family’s world.” At the time, they didn’t even know what mitochondrial disease was.

Despite the devastating diagnosis, Decklan continues to defy the odds and thrive. “Life is not easy for him,” Jayda says, “but he never lets his disease stop him from trying everything.” Since day one, their family’s goal has been to give Decklan a full life — making memories every chance they have.

Jayda appreciates that MitoCanada is so invested in supporting families affected by mito. “From information about new studies and testing, to facts about mito diseases, to sharing stories about those that are affected, to fun contests and giveaways, I really appreciate it all,” she says.

Although she had heard of MitoCanada after Decklan’s diagnosis, it wasn’t until she met Richard and Megan MacDonald — some of MitoCanada’s biggest ambassadors! — at a booth during the Regina Queen City Marathon that she felt truly connected. “After meeting them, I became connected to others in the community,” says Jayda. “Being a part of this community has given us lifelong friends and connections who truly understand what we’re going through and support us unconditionally.”

Jayda has also been an incredible champion for MitoCanada. “Anytime I can bring awareness to MitoCanada and the amazing work the organization does, it makes me proud,” she says. “The more awareness we get, the more chance we’ll be able to find cures for our children and loved ones down the road.”

Jayda’s message to others in the MitoCommunity is simple: “I hope everyone who lives with mito, or is a caregiver of someone who is, takes care of themselves and truly lives every day to its fullest.”

We’re grateful to Jayda Back and family for being such an inspiring part of our MitoCommunity.

Join us in fuelling the next 15 years. Every donation helps us continue this vital work and create a future where no one faces mito alone.

Be part of the journey. Donate today:

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