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Mealtime Approaches to Managing Energy Levels

Energy conservation is an important part of daily living with mito. Because energy production may be limited, everyday activities such as planning, preparing and eating meals can contribute to fatigue.

Mealtime strategies that reduce physical and cognitive effort can help preserve energy for other essential activities while still supporting consistent nutrition. Small adjustments in how and when meals are prepared and eaten make a meaningful difference.

1. Planning meals in advance
Deciding what to eat ahead of time can reduce decision fatigue and help avoid missed meals on lower-energy days. Simple meal plans or rotating familiar meals can support consistency without added stress

2. Sitting while preparing food
Sitting during food prep helps conserve energy, reduces muscle strain, and support safety, especially for individuals with muscle weakness, balance challenges or fatigue.

3. Using convenience options, when needed
Pre-cut produce, frozen meals, canned food, slow cooker and delivery options can be helpful tools, not shortcuts. These options can help maintain nutrition on days when energy is limited.

4. Timing larger meals during periods of higher energy
Eating more substantial meals at times of day when energy is typically better may help reduce fatigue and support digestion. Lighter meals or snacks may feel more manageable during lower-energy periods.

Care partners play a valuable role in supporting consistent nutrition, particularly during periods of illness, increased fatigue, or symptom flare-ups. Assistance with meal preparation, reminders to eat or drink, and flexibility around mealtime expectations can help reduce pressure and support overall well-being.

Managing Food Triggers in Mito

Food-related symptom flare-ups have been a reported experience for some individuals living with mito. Because mito can affect multiple organ systems, including the gastrointestinal tract, muscles, nervous system and autonomic nervous system, responses to food, meal timing and portion size can vary widely from person to person.

Research and clinical care guidelines increasingly recognize that metabolic stress, including prolonged fasting, large energy demands from digestion or rapid shifts in blood sugar, may worsen symptoms in individuals with impaired mitochondrial energy production. Patient reports also highlight that certain foods or eating patterns can contribute to fatigue, gastrointestinal discomfort, headaches, muscle pain or symptom flares.

Commonly reported triggers may include:

Skipping meals or prolonged fasting, which can increase metabolic stress and reduce available energy, particularly important for individuals who rely heavily on regular carbohydrate intake
Large, heavy meals, which may be more difficult to digest and can temporarily increase fatigue or gastrointestinal symptoms
Highly processed foods, which may be lower in essential nutrients and harder for someone individuals to tolerate
Excessive caffeine or alcohol, which can affect hydration, sleep, heart rate and nervous system regulation, potentially worsening symptoms in some people.

It’s important to note that these are not universal triggers. Foods or patterns that cause symptoms for one individual may be well tolerated by another.

Keeping a food-and-symptom journal can be a helpful, low-pressure way to notice patterns over time. Recording what is eaten, when meals occur, portion size, and how symptoms change afterward may help individuals and their healthcare providers identify potential triggers and make thoughtful adjustments.

When symptom flare-ups are frequent, severe, or associated with weight loss, dehydration, or declining function, it’s important to discuss these changes with a healthcare provider. Dietitians and mitochondrial specialists can help distinguish food-related triggers from other causes and support safe, individualized nutrition strategies.

Strategies to Enhance Energy Intake

Meeting energy needs can be challenging for some individuals living with mito. Reduced appetite, feeling full quickly (early satiety), nausea, gastrointestinal discomfort, or fatigue related to meal or food preparation can all make it difficult to eat enough to meet the body’s energy demands. Because energy-producing pathways may be less efficient in mito, even small shortfalls in intake can contribute to increased fatigue or symptom flare-ups over time.

The goal of nutrition strategies is to support steady, realistic energy intake while minimizing additional strain on the body.

Eating small, frequent meals rather than large portions, which may feel more manageable and help maintain consistent availability throughout the day.t
Choosing energy-dense foods (such as nut butters, avocado, olive oil or full-fat dairy, if tolerated) to provide more calories and nutrients in smaller volumes.
Adding healthy fats to meals to increase energy intake without significantly increasing portion size
Using smoothies, soups or oral nutrition supplements when solid foods are difficult to tolerate or appetite is low

Because nutritional needs and tolerances can vary widely depending on the specific mitochondri diagnosis, symptoms, and overall health, working with a healthcare provider or dietitian familiar with mitochondrial disease can help tailor these strategies. Personalized guidance can be especially important during periods of illness, stress or unintentional weight loss, when energy needs may change.

Hydration for Energy Support

Adequate hydration is an essential component of nutrition and plays a critical role in how the body produces and uses energy. Water is necessary for circulation, digestion, temperature regulation, and cellular metabolism, all processes that are already under increases strain in mitochondrial disease.

At the cellular level, hydration supports the movement of nutrients, electrolytes, and metabolic by-products in and out of the cells. When fluid levels are low, these processes become less efficient, which can further challenge energy production and worsen symptoms.

For individuals living with mito, even mild dehydration may contribute to increased fatigue, dizziness, headaches, constipation, muscle cramps and difficulty regulating body temperature, symptoms commonly reported across many mitochondrial conditions. Dehydration can also place additional stress on the cardiovascular and nervous systems, which may already be affected.

Consider the folowing:

Sip fluids regularly throughout the day, rather than drinking large amounts at once, to support steady absorption and avoid sudden fluid shifts
Include water-rich foods such as soups, fruits, and vegetables, which can contribute to daily fluid intake
Consider electrolyte-containing fluids, if recommended by a healthcare provider, especially during illness, hot weather, or periods of increased physical stress.

Individual fluid needs vary. Individuals with cardiac involvement, kidney disease, gastrointestinal symptoms or autonomic dysfunction (e.g., dizziness, temperature regulation, feeling faint, headaches) may require more personalized hydration strategies. Always speak with a healthcare provider before making significant changes to fluid or electrolyte intake.

Building a Well-Balanced, Nutrient-Dense Diet

A well-balanced diet provides a steady supply of fuel and essential nutrients that cells rely on to produce energy and maintain cellular function. In mitochondrial disease, where energy-producing pathways may be less efficient, consistent access to high-quality nutrition becomes especially important.

Rather than relying on one primary fuel source, a balanced approach supports multiple energy pathways and helps reduce metabolic stress on the body. Nutrient-dense foods, those that provide vitamins, minerals and energy without excessive calories, can help support energy levels, muscle function, and overall resilience.

1. Regular meals and snacks
Eating at consistent intervals helps maintain stable energy availability and may reduce fatigue, dizziness or symptom flare-ups associated with low energy stores.

2. Complex carbohydrates
These are foods that digest more slowly, providing a steady release of glucose, and longer-lasting energy, which many cells rely on for energy. They also help avoid rapid spikes and drops in sugar.

3. High-quality proteins
Provide essential amino acids that supports muscle maintenance, tissue repair and immune function. Adequate protein intake is important for preserving strength, especially for individuals with muscle involvement.

4. Healthy fats

Fats provide a concentrated source of energy and support the absorption of fat-soluble vitamins. The ability to use fat for energy varies by mitochondrial diagnosis, so individual guidance from a healthcare provider is important.

Not all individuals with mitochondrial disease can use fats efficiently and recommendations may differ depending on diagnosis and symptoms.

Because the body relies on multiple fuels and interconnected energy-producing pathways to generate ATP, maintaining a balanced intake of carbohydrates, proteins and fats is especially important in mitochondrial disease. When one or more of these pathways is less efficient, the body benefits from having flexible access to different sources.

For this reason, highly restrictive diets are generally discouraged unless they are medically indicated and supervised by a healthcare professional. Limiting entire food groups may increase the risk of nutrient deficiencies and can place additional strain on already challenged energy systems, potentially worsening fatigue and other symptoms.

The Role of Nutrition in Mitochondrial Disease

Nutrition refers to the process of taking in food and fluids to provide the body with energy, support growth, and repair and maintain overall health. Nutriton provides the raw materials mitochondria need to produce energy.

When we eat carbohydrates, they are broken down by digestive enzymes into glucose, fats are broken down by bile from the liver and digestive enzymes into fatty acids, and the protein we eat are broken down by digestive enzymes into amino acids.

Glucose, fatty acids and amino acids (smaller building blocks) are absorbed into the bloodstream and then taken up by muscle, brain and nerve, heart, and liver cells among others.

Inside the cells, mitochondria act as energy factories, using these fuel sources to produce ATP (adenosine triphosphate), the body’s main source of energy.

Energy problems can arise for a number of reasons in mitochondrial disease. Some disorders affect different energy-producing pathways, depending on the underlying genetic cause. Some individuals have difficulty using carbohydrates efficiently, others may struggle to use fats for energy, and some may be affected by multiple pathways.

Understanding which energy pathways are impacted can help explain why certain nutrition strategies are recommended for specific mitochondrial disorders.

Carbohydrate-Based Energy Pathways

What happens: Glucose is processed and ultimately used by mitochondria to create ATP

When this pathway is impaired:

The body has difficulty using glucose efficiently for energy, which can lead to energy drops and make the body more reliant on other energy pathways to produce energy.

Fat-Based Energy Pathways

What happens: Fatty acids are transported into mitochondria and broken down to create ATP

When this pathway is impaired:

There’s difficulty using fatty acids as a fuel source, which increases reliance on carbohydrates as a backup. During times illness, fasting or missed meals, the body is more likely to run out of usable energy.

* Oxidative Phosphorylation is the pathway impaired in fatty acid oxidation disorders (FAOD)

Protein-Based Energy Pathways

What happens: Some amino acids can be used to support energy production, when needed

When this pathway is impaired:

The body has more difficulty using amino acids for backup energy, which can increase fatigue and place extra strain or workload on other energy systems to compensate.

* Protein (amino acid) is not the body’s preferred fuel source because it’s more complex to breakdown, creating more metabolic stress or making cells in the body work harder to create needed energy.

In mitochondrial disease, any of the above energy-producing pathways may be inefficient or impaired. As a result, individuals may experience fatigue, muscle weakness, exercise intolerance, gastrointestinal symptoms, and difficulties maintaining weight or energy balance.

Thoughtful nutrition strategies can help:

Support more stable energy production
Reduce metabolic stress
Prevent nutrient deficiencies
Manage symptoms such as fatigue, nausea, and muscle pain

While nutrition is not a cure for mitochondrial disease, it can be a key component of comprehensive care.

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.

Explore the orginial publication or download our layperson article today:

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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

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:

Read the Publication

Download Summary

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.

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