What is Mitochondrial Disease?
Mitochondrial diseases are a group of disorders that affect the mitochondria, which are tiny compartments in almost every cell and organ of the body. These organelles provide the generator for energy production for the cell in the form of ATP through a process called oxidative phosphorylation. When the number or function of mitochondria in the cell are disrupted, less energy is produced and cell and organ dysfunction results. Mitochondria are the only organelles in human cells with their own genome, and depending on which cells within the body have disrupted mitochondria, different diseases may occur.
Depending on which cells within the body have disrupted mitochondria, different symptoms may occur. Currently there is no highly effective treatments for mitochondrial disorder, and standard of care target only symptoms and do not address the underlying cause of mitochondrial diseases. Supportive therapy may include nutritional management, exercise and/or vitamin or amino acid supplements.
In addition to primary mitochondrial diseases, which are rare inherited conditions directly caused by mutations in the mtDNA, mitochondria are thought to contribute to a range of age-related and neurodegenerative disorders, such as Alzheimer’s and Parkinson’s, heart failure, and metabolic diseases.
These treatments are merely supportive and not highly effective or disease modifying.~ Adapted from CHOP
Gene Mutations in the Cell’s “Powerhouse” Result in Devasting Diseases
- Without Effective Disease Modifying Treatments
In addition, an even larger set of indications than primary mitochondrial disease, secondary mitochondrial disease is thought to contribute to a range of age-related diseases & neurodegenerative disorders such as Alzheimer’s and Parkinson’s, heart failure, and metabolic diseases.