Yearly Archives: 2025

MitoCanada funds research to support the development of novel therapies to treat mitochondrial diseases

Exerkines™are a recently discovered class of biologically active compounds, such as peptidesandRNA, that are released into the circulatory system when we exercise. These compounds, which were discovered and named by Dr. Mark Tarnopolsky, have beneficial effects on various tissues and organs. 

While exercise has been associated with numerous health benefits for decades, there may be additional advantages we had not considered.  In 2016, MitoCanada supplemented a research grant from the Canadian Institutes of Health Research (CIHR) provided to Dr. Tarnopolsky and his then Ph.Dstudent, Dr. Justin Crane. The purpose of the research was to look at the effects of exercise on the release of exerkine™proteins into the circulation. 

Through their research, they discovered that Interleukin-15(IL-15)went up in response to acute exercise. IL-15 plays a majorrolein the development of inflammatory and protective immune responses. 

Perhaps more important to our community, they also found that very tiny pulses of IL-15 released in response to acute exercise led to the production of mitochondria in skin and muscleof mice.

Applying this new knowledge that exercise can impact mitochondrial function, this discovery could be used in future therapies for treating mitochondrial disease.Specifically, IL-15 could potentially be part of an injectable therapy (like an insulin pen) that delivers some of the mitochondrial benefits of exercise in those who cannot perform exercise. 

Discoveries like this offer hope to our mitochondrial community.

Dr. Mark Tarnopolsky | Professor of Pediatrics and Medicine McMaster University

MitoCanada partners with MITO2i to fund mitochondrial research that could introduce new therapies for breast cancer 

Breast cancer is the number one cancer killer of women. 

Improving survival and quality of life for patients with breast cancer is essential. We are however,  limited by our ability to offer personalized therapies that reduce the risk of treatment-resistance and disease recurrence while minimizing the risks of toxicity associated with ineffective chemotherapeutic agents. 

Therapy for patients with locally advanced breast cancer typically involves treatment with chemotherapy prior to surgery. Selecting the appropriate therapy often involves significant trial-and-error. Most patients receive a standard cocktail of drugs, but only about one-third have a positive and complete response. This highlights the need for personalized treatment. 

Dr. Screaton and his team propose to identify genes in the mitochondria of cancer cells that maycontribute to their growth, survival and ability to develop resistance to chemotherapy. 

It is known that cancer cells can use nutrients differently than normal cells. This raises the possibility of new strategies to kill them. These are called ‘mitochondrial metabolism vulnerabilities’. 

This novel approach will be able to silence mitochondrial genes in locally advanced breast cancer cells taken directly from patients to identify tumour-specific vulnerabilities. These vulnerabilities can then be targeted alone, or in conjunction with lower doses of established therapies, to kill tumours more effectively and reduce side effects. 

An exciting outcome of this work is the development of patient-specific therapies based on the patient’s tumour’s demonstrated drug sensitivities.

Robert Screaton, PhD | Senior Scientist at Sunnybrook Research Institute

MitoCanada partners with MITO2i to fund an innovation grant to explain the health-system impact of mito disease and psychiatric conditions

Epidemiology is a branch of medicine that examines the incidence, distribution, and possible control of diseases and other factors relating to health. Incidence summarizes the number of individual who develop a disease or condition during a specific time period and indicates the likelihood that a person in a specific population will be affected by that condition.

Dr. Rosella’s study, The epidemiology and health system impact of mitochondrial disease and psychiatric conditions in Ontario: a population-based study, is the first to establish a methodological approach to measure mitochondrial disease from population data across Canada. 

The overall goal of this study is to use linked population health databases to characterize the epidemiology of mitochondrial disease and the co-occurrence with mental health conditions in Ontario. Our specific objectives are to examine: 

1. the health care burden and costs associated with mitochondrial disease in a population-based cohort in Ontario
2. the association between mood disorders and other mental health conditions in patients with mitochondrial disease and,
3. the joint impact of mental health conditions on the health care use, costs and mortality.

For the first time in Canada, we will 

a) contribute key epidemiological evidence to inform health and health care for those living with mitochondrial conditions, and 

b) further support hypotheses and research on the relationship between mitochondrial disease and mental health. 

Funding for this innovation grant will allow us to build fundamental methodology that can be replicated across Canada and enable future international research to compare mitochondrial disease populations and further study of health care utilization and costs.

Laura Rosella, PhD, MHSc | Associate Professor, Dalla Lana School of Public Health, University of Toronto

MitoCanada partners with MITO2i fund mitochondrial research that could improve quality of life for those with autism spectrum disorder

Autism spectrum disorder (ASD) occurs in 10-20 % of mitochondrial disorders. 

ASD is a neurodevelopmentaldisorder that can cause significant social, communication and behavioural challenges. Those living with ASD have difficulty with social communication/ interactions and may engage in repetitive patterns of behaviour. 

ASD occurs in approximately 10-20 % of people affected by mitochondrial disorders. Genetic mutations that are important in neuro-developmental genes can explain approximately20 % of ASDs.  Metabolic factors may also impact up to 10-20 % of children. This includes abnormalities in the mitochondria and carnitine (Cn)-dependent system. 

L-Cn is a safe vitamin that is important in generating energy for the brain, protecting it from excessive toxic free radicals, and helping neurotransmission.

It is often used to treat mitochondrial disorders. The brain has 3 Cn transporters. Dysfunction of one is associated with ADHD and ID. Certain children with ASD have had a positive response to Cn, particularly those with defects in the Cn pathway. 

The earlier we can identify and treat children at risk, the greater the effect on brain development and quality of life.

Dr. Tein’s research aims to identify genetic risk variants in the Cn transporter and Cn biosynthesis gene families. It also plans to identify clinical risk factors leading to Cn deficiency in a group of children with ASD. 

The approach will select children at risk for carnitine deficiency for potential future clinical trials in order toselect those who may have a positive response to Cn. The hope is that this will lead to improved social communication, attention, and learning for a subgroup children with ASD.

Dr. Ingrid Tein | Director, Neurometabolic Clinic, Hospital for Sick Children

Identification of Candidate Genetic Susceptibility Variants in the Carnitine Transporter and Carnitine Biosynthesis Gene Families in Autism Spectrum Disorder: A Novel Precision Medicine Target