Case Studies



Putative Cures




Finding A Cure for Mitochondrial Diseases

What are mitochondrial diseases?

There are many paths down which mitochondrial function can go awry to manifest serious human diseases, potentially affecting any organs at any age without uniform clinical symptoms. Symptoms of mitochondrial dysfunction can include: diabetes, dementia, muscle weakness, hearing loss, blindness, and mortality to name but a few. Because of this diversity of symptoms, clinical diagnosis is formidable and it is thought that many milder cases go undiagnosed. Despite this diversity, more common and severe manifestations of mitochondrial dysfunction have been classified into the following disorders:
  • Leber's Hereditary Optic Neuropathy (LHON) causes loss of central vision within two to eight weeks. It usually affects young men in their twenties and is estimated that 3,000 people in England are blind due to LHON. Three mutations in mtDNA account for the majority of cases of LHON, and all occur in the Complex I subunit of the electron transport chain. 1, 2, 3, 4
  • Kearns Sayre Syndrome (KSS) is characterized by progressive paralysis of certain eye muscles (chronic progressive external opthalmoplegia-CPEO), pigmentary degeneration of the retina, and heart disease (cardiomyopathy). Its onset is occurent in people under twenty years old. KSS is most usually caused by a large deletion in mtDNA.1, 2
  • Pearson Syndrome is usually observed in infants and can be fatal within the first few years of life. Common features include anemia, marrow disorder, and lactic acidemia. 1, 2, 3, 4
  • MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes)
  • Myoclonus epilepsy

There are many more clinical manifestations of mitochondrial disease than those disorders listed above, and more can be found out about these at the following site: