Academic Journals Database
Disseminating quality controlled scientific knowledge

PGC-1alpha as modifier of onset age in Huntington disease

ADD TO MY LIST
 
Author(s): Taherzadeh-Fard Elahe | Saft Carsten | Andrich Jürgen | Wieczorek Stefan | Arning Larissa

Journal: Molecular Neurodegeneration
ISSN 1750-1326

Volume: 4;
Issue: 1;
Start page: 10;
Date: 2009;
Original page

ABSTRACT
Abstract Although there is a strong correlation between CAG repeat length and age at onset (AO) of motor symptoms, individual Huntington disease (HD) patients may differ dramatically in onset age and disease manifestations despite similar CAG repeat lengths. This has led to a search for genetic factors that influence AO. In order to identify such a genetic modifier, we analysed polymorphisms in the PGC-1alpha gene. Recent data indicate inhibition of PGC-1alpha function by mutant Htt supporting a link between transcriptional deregulation and mitochondrial dysfunction in HD. In > 400 HD patients, a polymorphism located within intron 2, a potential recombination hot spot, explains a small, but statistically significant, amount of the variability in AO. Our data suggest that PGC-1alpha has modifying effects on the pathogenic process in HD.
Save time & money - Smart Internet Solutions     

Tango Jona
Tangokurs Rapperswil-Jona