Mitochondrial disease is a group of disorders caused by dysfunctional mitochondria – mitochondria that don’t work properly. It can affect multiple systems in the body including the liver, kidneys, pancreas, brain and digestive tract. The eyes, inner ear, muscles and blood may also be affected. Click to see illustration.
There are currently over 220 illnesses associated with mitochondrial dysfunction, and the list is growing. Every 30 minutes, a child is born with mitochondrial disease and about 1 in 5,000 people has the disease. It can be inherited or acquired as a result of infections, medicines or other environmental factors.
Each condition is the result of a genetic mutation – a specific change in the genetic material of the mitochondria. The mutations occur in the mitochondrial DNA (mtDNA) or nuclear genes (nuDNA) and cause the mitochondria to fail. At least 1 in 200 individuals harbor a mitochondrial mutation.
Healthy mitochondria convert oxygen and the sugar, fat and protein from the foods we eat into energy-rich molecules called ATP (adenosine triphosphate). Energy from ATP is needed to carry out vital functions that our bodies need to survive and thrive. The mitochondrion is very susceptible to damage. When mitochondria are not functioning properly, impacts on the body can be devastating. See the body system affected by the primary mitochondrial disease.
During the production of ATP, your mitochondria produce waste called free radicals. This toxic waste can cause specific changes (mutations) in the genetic material of the mitochondria that damage the mitochondrion itself and can cause cell dysfunction and disease. Mitochondrial disease results when the production of cellular energy is defective.
- Primary mitochondrial disease (PMD) is diagnosed by identifying mutations on mitochondrial DNA (mtDNA) or nuclear DNA (nDNA) that result in mitochondrial dysfunction. We estimate that over 220,000 Canadian’s suffer from primary mitochondrial diseases – most are yet to be diagnosed.
- Secondary mitochondrial dysfunction (SMD) can be caused by genes encoding neither function nor production of specific proteins or environmental factors.
Mitochondrial disease is difficult to diagnose because it affects different people in different ways. There may be as many as 5.5 million Canadian adults suffering from diseases in which mitochondrial dysfunction is involved. These include diabetes, diseases of the heart, kidney and liver, Alzheimer’s, ALS, Parkinson’s, autism, cancer, blindness, deafness, chronic fatigue, infertility and more. There is no cure for mitochondrial disease – yet.
MitoCanada is transforming the outlook for people with mitochondrial disease by raising awareness, offering knowledge and support to patients, families and caregivers and, funding transformational research.
Who is at risk?
The more energy a cell needs, the more mitochondria they have. Because our brain, heart, liver, kidneys, digestive tract and muscles need the most energy, they are the most susceptible to mitochondrial disease.
Rule of thumb: If three or more organ systems are involved, mitochondrial disease may be suspected.TAKE THE MITO TEST