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J Child Neurol. 2012 Sep;27(9):1212-6. doi: 10.1177/0883073812449691. Epub 2012 Jul 12.

Therapeutic developments in Friedreich ataxia.

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1
Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA. WilsonR@mail.med.upenn.edu

Abstract

Friedreich ataxia is an inherited, severe, progressive neuro- and cardiodegenerative disorder for which there currently is no approved therapy. Friedreich ataxia is caused by the decreased expression and/or function of frataxin, a mitochondrial matrix protein that binds iron and is involved in the formation of iron-sulfur clusters. Decreased frataxin function leads to decreased iron-sulfur cluster formation, mitochondrial iron accumulation, cytosolic iron depletion, oxidative stress, and mitochondrial dysfunction. Cloning of the disease gene for Friedreich ataxia and elucidation of many aspects of the biochemical defects underlying the disorder have led to several major therapeutic initiatives aimed at increasing frataxin expression, reversing mitochondrial iron accumulation, and alleviating oxidative stress. These initiatives are in preclinical and clinical development and are reviewed herein.

PMID:
22791549
PMCID:
PMC3674490
DOI:
10.1177/0883073812449691
[Indexed for MEDLINE]
Free PMC Article
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