Journal
JOURNAL OF CHILD NEUROLOGY
Volume 27, Issue 9, Pages 1212-1216Publisher
SAGE PUBLICATIONS INC
DOI: 10.1177/0883073812449691
Keywords
Friedreich ataxia; mitochondria; iron; experimental therapeutics; trinucleotide repeat disorders; sulfur; mitochondrial
Categories
Funding
- National Institutes of Health
- National Institute of Neurological Disorders and Stroke [5R13NS040925-15]
- National Institutes of Health Office of Rare Disease Research
- Child Neurology Society
- National Ataxia Foundation
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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.
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