The use of transgenic and knock-in mice to study Huntington's disease.
The trinucleotide repeat disorders comprise an ever expanding list of diseases, all of which are caused by an unstable expanded trinucleotide repeat tract. Huntington's disease (HD) is a member of this family of diseases and more specifically, is a Type II trinucleotide repeat disorder. This means that the mutation in HD is an unstable expanded polyglutamine repeat tract, which is expressed at protein level. There is no cure or beneficial treatment for this fatal neurodegenerative disorder, and patients suffer from progressive motor, cognitive and psychiatric dysfunction. Recent years has seen the development of many genetic models of HD, which allow study of the early phases of disease process, at several different levels of cell function. In addition, these models are being used to investigate the potential of a variety of therapeutic agents for clinical use. Here we review these findings, and their implication for HD pathogenesis.
Hickey
M A
MA
Department of Neurology, Reed Neurological Research Centre, The David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA.
Chesselet
M-F
MF
D000818:Animals; D004195:Disease Models, Animal; D006801:Humans; D000071058:Huntingtin Protein; D006816:Huntington Disease / Q000235:genetics* / Q000473:pathology; D051379:Mice; D018345:Mice, Knockout; D008822:Mice, Transgenic; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D010641:Phenotype; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*
C086055:HTT protein, human; C506812:Htt protein, mouse; D000071058:Huntingtin Protein; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins