title: Cardiomyopathy of Friedreich's ataxia: use of mouse models to understand human disease and guide therapeutic development.
abstract: Friedreich's ataxia is a multisystem disorder of mitochondrial function affecting primarily the heart and brain. Patients experience a severe cardiomyopathy that can progress to heart failure and death. Although the gene defect is known, the precise function of the deficient mitochondrial protein, frataxin, is not known and limits therapeutic development. Animal models have been valuable for understanding the basic events of this disease. A significant need exists to focus greater attention on the heart disease in Friedreich's ataxia, to understand its long-term outcome, and to develop new therapeutic strategies using existing medications and approaches. This review discusses some key features of the cardiomyopathy in Friedreich's ataxia and potential therapeutic developments.
authors.affiliation: Riley Heart Research Center, Wells Center for Pediatric Research, Indiana University School of Medicine, 1044 West Walnut, R4302, Indianapolis, IN 46202, USA. rpayne@iupui.edu
authors.forename: R Mark
authors.initials: RM
authors.lastname: Payne
authors.forename: P Melanie
authors.initials: PM
authors.lastname: Pride
authors.forename: Clifford M
authors.initials: CM
authors.lastname: Babbey
mesh_terms: D000818:Animals; D009202:Cardiomyopathies / Q000150:complications* / Q000235:genetics / Q000628:therapy*; D004195:Disease Models, Animal; D005621:Friedreich Ataxia / Q000150:complications* / Q000235:genetics / Q000628:therapy*; D006801:Humans; D033862:Iron-Binding Proteins / Q000378:metabolism; D051379:Mice; D000096923:Frataxin
chemical_list: D033862:Iron-Binding Proteins; D000096923:Frataxin