Frataxin deficiency and the pathology of Friedreich’s Ataxia across tissues
Year: 2025
Type: review
Abstract: Friedreich’s Ataxia (FRDA) is a neurodegenerative disease that affects a variety of different organ systems. The disease is caused by GAA repeat expansions in intron 1 of the Frataxin gene (FXN), which results in a decrease in the expression of the FXN protein. FXN is needed for the biogenesis of iron-sulfur clusters (ISC) which are required by key metabolic processes in the mitochondria. Without ISCs those processes do not occur properly. As a result, reactive oxygen species accumulate, and the mitochondria cease to function. Iron is also thought to accumulate in the cells of certain tissue types. These processes are thought to be intimately related to the pathologies affecting a myriad of tissues in FRDA. Most FRDA patients suffer from loss of motor control, cardiomyopathy, scoliosis, foot deformities, and diabetes. In this review, we discuss the known features of FRDA pathology and the current understanding about the basis of these alterations.
Source: Tissue Barriers
Authors: Wesley S. Ercanbrack, Mateo Ramirez, Austin Dungan, Ella Gaul, Sarah J. Ercanbrack, Rebecca A. Wingert
Institution: University of Notre Dame
Language: English
Subfield: Cellular and Molecular Neuroscience
Field: Neuroscience
Domain: Life Sciences
Open Access status: hybrid
Funder: University of Notre Dame
OpenAlex ID: W4407810398