PGC-1alpha downstream transcription factors NRF-1 and TFAM are genetic modifiers of Huntington disease.

ABSTRACT:

Background

Huntington disease (HD) is an inherited neurodegenerative disease caused by an abnormal expansion of a CAG repeat in the huntingtin HTT (HD) gene. The primary genetic determinant of the age at onset (AO) is the length of the HTT CAG repeat; however, the remaining genetic contribution to the AO of HD has largely not been elucidated. Recent studies showed that impaired functioning of the peroxisome proliferator-activated receptor gamma coactivator 1a (PGC-1alpha) contributes to mitochondrial dysfunction and appears to play an important role in HD pathogenesis. Further genetic evidence for involvement of PGC-1alpha in HD pathogenesis was generated by the findings that sequence variations in the PPARGC1A gene encoding PGC-1alpha exert modifying effects on the AO in HD. In th

SUBMITTER: Taherzadeh-Fard E 

PROVIDER: S-EPMC3117738 | biostudies-literature | 2011 May

REPOSITORIES: biostudies-literature