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Pediatric Cardiology
Published in: Pediatric Cardiology 3/2011

01-03-2011 | Riley Symposium

Cardiomyopathy of Friedreich’s Ataxia: Use of Mouse Models to Understand Human Disease and Guide Therapeutic Development

Authors: R. Mark Payne, P. Melanie Pride, Clifford M. Babbey

Published in: Pediatric Cardiology | Issue 3/2011

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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.
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Metadata
Title
Cardiomyopathy of Friedreich’s Ataxia: Use of Mouse Models to Understand Human Disease and Guide Therapeutic Development
Authors
R. Mark Payne
P. Melanie Pride
Clifford M. Babbey
Publication date
01-03-2011
Publisher
Springer-Verlag
Published in
Pediatric Cardiology / Issue 3/2011
Print ISSN: 0172-0643
Electronic ISSN: 1432-1971
DOI
https://doi.org/10.1007/s00246-011-9943-6

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