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Recent advances in the molecular pathogenesis of Friedreich ataxia Puccio H; Koenig MHum Mol Genet 2000[Apr]; 9 (6): 887-92Friedreich ataxia, the most frequent cause of recessive ataxia, is due in most cases to a homozygous intronic expansion resulting in the loss of function of frataxin. Frataxin is a mitochondrial protein conserved through evolution. Yeast knock-out models and histological data from patient heart autopsies have shown that frataxin defect causes mitochondrial iron accumulation. Biochemical data from patient heart biopsies or autopsies have revealed a specific deficiency in the activities of aconitases and of mitochondrial iron-sulfur proteins. These results suggest that frataxin may play a role either in mitochondrial iron transport or in iron-sulfur cluster assembly or transport. Iron abnormalities suggest a pathogenic mechanism involving free radical production and oxidative stress, a process that might be sensitive to antioxidant therapies.|*Iron-Binding Proteins[MESH]|Frataxin[MESH]|Friedreich Ataxia/*genetics/therapy[MESH]|Humans[MESH]|Iron-Sulfur Proteins/deficiency[MESH]|Iron/metabolism[MESH]|Mitochondria/metabolism[MESH]|Mutation[MESH]|Phosphotransferases (Alcohol Group Acceptor)/genetics[MESH] |
