Table of Contents
What is mitochondrial disease?
Mitochondrial Diseases. Mitochondria are the “energy factory” of our body. Mitochondrial diseases are long-term, genetic, often inherited disorders that occur when mitochondria fail to produce enough energy for the body to function properly. One in 5,000 individuals has a genetic mitochondrial disease.
What are some examples of mitochondrial dysfunction?
Acquired conditions in which mitochondrial dysfunction has been involved are: diabetes, Huntington’s disease, cancer, Alzheimer’s disease, Parkinson’s disease, bipolar disorder, schizophrenia, aging and senescence, anxiety disorders, cardiovascular disease, sarcopenia and chronic fatigue syndrome.
What are the symptoms of mitochondrial disease in a mother?
A mother may have mild or no symptoms with her defective mitochondria, but her children may have mild to severe disease presentation due to heteroplasmy i.e., varying proportion of mutant mtDNA.
Is there a cure for mitochondrial disease?
There are no cures for mitochondrial diseases, but treatment can help reduce symptoms or slow the decline in health. Treatment varies from patient to patient and depends on the specific mitochondrial disease diagnosed and its severity.
Are mitochondrial genetic disorders hard to diagnose?
Unfortunately, mitochondrial genetic disorders can be difficult to diagnose, and many affected people may never receive a specific diagnosis. They are often suspected in people who have a condition that effects multiple, unrelated systems of the body.
What causes mitochondrial myopathies?
Mitochondrial myopathies are caused by mutations, or changes, in genes — the cells’ blueprint for making proteins. They are inheritable, although they can occur with no family history, and they often affect members of the same family in different ways.
What is the outlook for people with mitochondrial diseases?
The outlook for people who have mitochondrial diseases depends on how many organ systems and tissues are affected and the severity of disease. Some affected children and adults live near normal lives. Others might experience drastic changes in their health over a very short period of time.
What organ systems are affected by mitochondrial disease?
People with mitochondrial genetic disorders can present at any age with almost any affected body system. While some conditions may only affect a single organ, many involve multiple organ systems including the brain, muscles, heart, liver, nerves, eyes, ears and/or kidneys.