All cells in the human body contain mitochondria. Mitochondria are the ‘power plants’ of cells that provide the body with all of the energy it needs to walk, talk, laugh, hear, digest food and breathe. When a person has mitochondrial disease, the power plants in their cells are not working properly. It’s like having a massive power outage within your body. In some cases, mitochondrial disease is fatal.

Our muscles need energy to function. That energy comes from our mitochondria. Mitochondria are tiny structures inside almost every cell in our bodies.

Each person has trillions of mitochondria working to convert oxygen and food into a special type of energy called adenosine triphosphate, or ATP. Some cells have a single mitochondrion while others contain hundreds.

Someone who does not have enough healthy mitochondria, in one or several muscle groups, is said to have primary or secondary mitochondrial dysfunction or disease. There are over 300 primary mitochondrial diseases and thousands of secondary mitochondrial diseases that may include dementia and Alzheimer’s disease, Parkinson’s, diabetes, ALS, cancer and many other more commonly recognized chronic diseases. Primary Mitochondrial Myopathies PDF »

No. There is no cure for mitochondrial disease and there are very few effective treatments. Currently, most treatments treat only the symptoms of the disease.

There is, however, hope for a better future.

  • MitoCanada and other organizations are funding research to achieve a deeper understanding of the mitochondria and mitochondrial dysfunction
  • multiple companies are working on treatments that we hope will prevent disease and restore mito dysfunction
  • genetic testing is becoming more sophisticated, less expensive and more accessible. We can now identify mitochondrial mutations in a matter of hours to help diagnose mito earlier than in the past. Receiving an early and accurate diagnosis enables those living with mito to take appropriate steps to protect and enhance their health. Knowing someone is a carrier allows them to make important decisions for future generations.
  • Recent news from around the world also offers hope for the potential of Mitochondrial Replacement Therapy (MRT) a new form of invitro fertilization that involves replacing abnormal mitochondrial DNA (mtDNA) with healthy mtDNA

At this time, there is no cure for mitochondrial disease. The goal of current therapies is to relieve symptoms and improve quality of life. Most therapies involve nutritional supplements and exercise programs with a special diet being a possible solution for some. In many cases, those living with the disease may need devices and therapies to help them breathe, eat, move and learn. Primary Mitochondrial Myopathies PDF »

Yes. When adults are diagnosed with mito it is called adult-onset mitochondrial disease and is among the most common adult forms of inherited neurological disorders. Many individuals will have been ill their entire lives but were never diagnosed. Others have carried the genetic mutation that causes mitochondrial disease since birth but did not show any symptoms until environmental toxins or illness brought them on. Adult mitochondrial disease patients are affected in a similar manner as children, usually experiencing muscle weakness, exercise intolerance that leads to unusual feelings of exhaustion, and symptoms affecting their organs.

Asserting a specific number is difficult because we believe many people with mitochondrial disease go undiagnosed and those with secondary mitochondrial disease are not consistently included in statistics. Research tells us that mitochondrial dysfunction is at the core of well-known chronic diseases that affect millions of people globally. These may include dementia and Alzheimer’s disease, Parkinson’s disease, diabetes, ALS, cancer and many other more commonly recognized chronic diseases.

What we believe to be true is that:

  • every 30 minutes, a child is born with mitochondrial disease
  • only 10% of patients receive a diagnosis
  • at least 1 in 200 individuals harbor a mitochondrial mutation, which could manifest into mitochondrial disease

1 in 4,000 people are estimated to have a primary mitochondrial disease.

The disease can appear at any age and range from mild to severe. Many children and adults suffer for years seeking a diagnosis for the symptoms caused by mitochondrial disease. Because there are few physicians and experts in the field, some people are often misdiagnosed which leads to further deterioration of health. Primary Mitochondrial Myopathies PDF »

A ‘red flag’ for mitochondrial disease is when a child or adult has issues with more than 3 organ systems or when a ‘typical’ disease exhibits atypical qualities. Primary Mitochondrial Myopathies PDF »

The parts of the body that need the most energy, such as the heart, brain, muscles and lungs, are the most affected by mitochondrial disease. Individuals may suffer strokes, seizures, gastrointestinal problems (reflux, severe vomiting, constipation, diarrhea), swallowing difficulties, failure to thrive, blindness, deafness, heart and kidney problems, muscle failure, heat/cold intolerance, diabetes, lactic acidosis, immune system problems and liver disease. Primary Mitochondrial Myopathies PDF »

Some children and adults are living fairly normal lives despite having mitochondrial disease. However, many are severely affected. Some children do not survive their early years and may succumb to their disease as teenagers. Those experiencing adult-onset of mitochondrial disease may deteriorate from a once productive lifestyle to one that includes debilitating, and even life-threatening, symptoms. Primary Mitochondrial Myopathies PDF »

The overall disease burden is unknown but suspected to be significant, especially if we consider both primary and secondary mitochondrial disease. These costs impact direct and indirect health care costs to the patient and society as a whole. MitoCanada is seeking funding to conduct a Prevalence and Incidence Study to discover the full impact of mitochondrial disease that we hope will lead to a better understanding.