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Clinical correlates of mitochondrial function in Huntington's disease muscle

7 Jun 2007

Abstract excerpt

Huntington's disease (HD) is caused by an abnormally expanded CAG repeat in the IT-15 gene, which encodes a widely expressed protein called huntingtin. Abnormalities of mitochondrial respiratory chain function, specifically complex II/III, have been identified in HD striatum and defects of energy metabolism have been demonstrated in vivo in skeletal muscle in both symptomatic and presymptomatic HD patients. We...

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PMID: 17557337
DOI: 10.1002/mds.21540

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