Frataxin and frataxin deficiency in Friedreich's ataxia

Abstract

A deficiency in the protein frataxin causes Friedreich’s ataxia (FRDA). Missense mutations in f2% of disease alleles cause a functional deficiency of frataxin, while f98% of disease alleles have a guanine-adenine-adenine (GAA) repeat expansion in the first intron [1]. The expansion decreases frataxin expression by interfering with transcription [2]. A complete knockout of the murine frataxin gene causes embryonic lethality, indicating that at least some frataxin function is necessary for survival [3]. This summary focuses on the current hypotheses of frataxin function, the supporting experimental evidence, and the role of frataxin deficiency in FRDA. A more complete list of references can be found in the excellent recent review by Patel and Isaya [4].