The progression of cardiomyopathy in the mitochondrial disease, friedreich's ataxia

Abstract

Friedreich's ataxia (FA) is a debilitating mitochondrial disorder leading to neural and cardiac degeneration that is caused by a mutation in the frataxin gene. The most common cause of death in these patients is heart failure, although it is not known how the deficiency in frataxin potentiates the observed cardiomyopathy. However, there have been a number of proposed mechanisms involving the function of frataxin, and the origins of heart failure in FA that will be discussed in this chapter. It is hoped that the elucidation of these potential mechanisms will lead to a comprehensive understanding of the pathogenesis of FA, and contribute to the development of treatments and therapeutics.