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Human Molecular Genetics, 2000, Vol. 9, No. 6 887-892
© 2000 Oxford University Press

Recent advances in the molecular pathogenesis of Friedreich ataxia

Hélène Puccio and Michel Koenig+

Institut de Génètique et de Biologie Moléculaire et Cellulaire (CNRS/INSERM/ULP), 1 rue Laurent Fries BP163, 67404 Illkirch, CU de Strasbourg, France

Friedreich 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.

+ To whom correspondence should be addressed. Tel: +33 3 8865 3399; Fax: +33 3 8865 3246; Email: mkoenig@igbmc.u-strasbg.fr


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