Cardiomyopathy of Friedreich’s Ataxia: Use of Mouse Models to Understand Human Disease and Guide Therapeutic Development
- نوع فایل : کتاب
- زبان : انگلیسی
- مؤلف : R. Mark Payne • P. Melanie Pride • Clifford M. Babbey
- چاپ و سال / کشور: 2011
Description
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 longterm 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.
Pediatr Cardiol (2011) 32:366–378 DOI 10.1007/s00246-011-9943-6 Received: 11 February 2011 / Accepted: 11 February 2011 / Published online: 1 March 2011
