Article

Lessons from animal models of Huntington's disease.

Dept of Medical Genetics, Cambridge Institute of Medical Research, Wellcome/MRC Building, Addenbrooke's Hospital, Hills Road, Cambridge CB2 2XY, UK.
Trends in Genetics (impact factor: 10.06). 05/2002; 18(4):202-9. pp.202-9
Source: PubMed

ABSTRACT Huntington's disease (HD) is an autosomal-dominant neurodegenerative disorder caused by a CAG trinucleotide repeat expansion in the HD gene. The expanded repeats are translated into an abnormally long polyglutamine tract close to the N-terminus of the HD gene product, huntingtin. Studies in mouse models and human suggest that the mutation is associated with a deleterious gain of function. There is now a wide range of mouse models for HD, providing important insights into processes associated with disease pathogenesis. These models have been complemented by studies in Drosophila and Caenorhabditis elegans that have allowed the identification of possible modifier loci through suppressor screens.

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Keywords

autosomal-dominant neurodegenerative disorder
 
Caenorhabditis elegans
 
CAG trinucleotide repeat expansion
 
deleterious gain
 
disease pathogenesis
 
HD
 
HD gene
 
HD gene product
 
Huntington's disease
 
mouse models
 
possible modifier loci
 
suppressor screens