What Can the Mitochondrial Disease Friedreich’s Ataxia Tell Us about the Aging Mitochondria? - Abstract
Friedrich’s Ataxia (FA) is a progressive neurodegenerative disorder commonly cited with a incidence of 1/50,000 live births. The disease is autosomal recessive and arises from a trinucleotide GAA repeat on chromosome 9. This repeat is located within the frataxin gene, which is located within the mitochondria and is commonly cited to be closely related to iron homeostasis within the mitochondria. Thus, FA is a neurodegenerative disease primarily arising from mitochondrial dysfunction. Clinically, FA presents in the first two decades of life, and is associated with significant morbidity and mortality. Clinical findings include truncal and limb ataxia, and absent deep tendon reflexes. Other findings include pes cavus, scoliosis, cardiomyopathy and dysarthria. FA results in several morphological, functional and biochemical abnormalities on the cellular and mitochondrial level. Moreover, several mitochondrial alterations have been linked to aging and age related diseases. The present mini-review will compare the common abnormalities found in the mitochondria due to normal aging and FA.