title: Mitochondrial dysfunction in friedreich's ataxia.
abstract: Friedreich ataxia (FRDA) is an autosomal recessive degenerative disorder caused in the vast majority of cases by a GAA triplet expansion in the FRDA gene on chromosome 9q13. The FRDA gene product, frataxin, is a widely expressed mitochondrial protein which is severely reduced in FRDA patients. Loss of the homologue of frataxin in yeast is associated with mitochondrial iron overload, increased sensitivity to oxidative stress and profound deficit of oxidative phosphorylation. The demonstration that the human pathology of FRDA is also characterised by mitochondrial iron accumulation, deficit of respiratory chain complex activities and in vivo deficit of tissue energy metabolism establishes FRDA as a 'new' nuclear encoded mitochondrial disease.
authors.affiliation: Dipartimento di Medicina Clinica e Biotecnologia Applicata, Università di Bologna, Italy. lodi@med.unibo.it
authors.forename: R
authors.initials: R
authors.lastname: Lodi
authors.forename: D J
authors.initials: DJ
authors.lastname: Taylor
authors.forename: A H
authors.initials: AH
authors.lastname: Schapira
mesh_terms: D009202:Cardiomyopathies / Q000209:etiology; D005621:Friedreich Ataxia / Q000209:etiology* / Q000378:metabolism; D006801:Humans; D007501:Iron / Q000378:metabolism; D033862:Iron-Binding Proteins; D008928:Mitochondria / Q000378:metabolism*; D018384:Oxidative Stress; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics / Q000378:metabolism; D000096923:Frataxin
chemical_list: D007501:Iron; D033862:Iron-Binding Proteins; D017853:Phosphotransferases (Alcohol Group Acceptor); D000096923:Frataxin