Distinct effects of frataxin missence point mutations on mitochondrial localization, protein processing, and cellular metabolism

Clark, Elisia M., University of Pennsylvania, Philadelphia, PA, United States
National Institute of Health (NIH), National Institute of Neurological Disorders and Stroke (NINDS)
Type: Predoctoral Individual National Research Service Award.

Although the function of frataxin (FXN) remains unclear, it is a mitochondrial protein imperative for proper mitochondria function. Friedreich's ataxia patients who carry missense point mutations in FXN display phenotypic variability that is mutation selective for unclear reasons. These studies will examine the mechanism by which FRDA-associated missense mutations impair FXN processing and explore the influence they have on cellular metabolism, in addition to exploring the use of fatty acids as a potential therapeutic strategy.

 Distinct effects of frataxin missence point mutations on mitochondrial localization, protein processing, and cellular metabolism