Simultaneous Quantification of Mitochondrial Mature Frataxin and Extra-Mitochondrial Frataxin Isoform E in Friedreich's Ataxia Blood.

ABSTRACT: Friedreich's ataxia (FRDA) is an autosomal recessive disease caused by an intronic guanine-adenine-adenine (GAA) triplet expansion in the frataxin (FXN) gene, which leads to reduced expression of full-length frataxin (1-210) also known as isoform 1. Full-length frataxin has a mitochondrial targeting sequence, which facilitates its translocation into mitochondria where it is processed through cleavage at G⁴¹-L⁴² and K⁸⁰-S⁸¹ by mitochondrial processing (MPP) to release mitochondrial mature frataxin (81-210). Alternative splicing of FXN also leads to expression of N-terminally acetylated extra-mitochondrial frataxin (76-210) named isoform E because it was discovered in erythrocytes. Frataxin isoforms are undetectable in serum or plasma

SUBMITTER: Wang Q 

PROVIDER: S-EPMC9098139 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature