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Localization of sequence variations in PGC-1α influence their modifying effect in Huntington disease

6 Jan 2011

Abstract excerpt

BACKGROUND: Huntington disease (HD) is caused by a polyglutamine expansion of more than 35 units in the huntingtin protein. This expanded repeat length inversely correlates with the age-at-onset (AAO), however, additional genetic factors apart from the expanded CAG repeat size are thought to influence the course and the AAO in HD. Until now, among others, the gene encoding PCG-1α (PPARGC1A) was shown to modify...

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PMID: 21211002
DOI: 10.1186/1750-1326-6-1

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