RNAi suppresses polyglutamine-induced neurodegeneration in a model of spinocerebellar ataxia

H Xia, Q Mao, SL Eliason, SQ Harper, IH Martins… - Nature medicine, 2004 - nature.com
H Xia, Q Mao, SL Eliason, SQ Harper, IH Martins, HT Orr, HL Paulson, L Yang, RM Kotin
Nature medicine, 2004nature.com
The dominant polyglutamine expansion diseases, which include spinocerebellar ataxia type
1 (SCA1) and Huntington disease, are progressive, untreatable, neurodegenerative
disorders. In inducible mouse models of SCA1 and Huntington disease, repression of
mutant allele expression improves disease phenotypes. Thus, therapies designed to inhibit
expression of the mutant gene would be beneficial. Here we evaluate the ability of RNA
interference (RNAi) to inhibit polyglutamine-induced neurodegeneration caused by mutant …
Abstract
The dominant polyglutamine expansion diseases, which include spinocerebellar ataxia type 1 (SCA1) and Huntington disease, are progressive, untreatable, neurodegenerative disorders. In inducible mouse models of SCA1 and Huntington disease, repression of mutant allele expression improves disease phenotypes. Thus, therapies designed to inhibit expression of the mutant gene would be beneficial. Here we evaluate the ability of RNA interference (RNAi) to inhibit polyglutamine-induced neurodegeneration caused by mutant ataxin-1 in a mouse model of SCA1. Upon intracerebellar injection, recombinant adeno-associated virus (AAV) vectors expressing short hairpin RNAs profoundly improved motor coordination, restored cerebellar morphology and resolved characteristic ataxin-1 inclusions in Purkinje cells of SCA1 mice. Our data demonstrate in vivo the potential use of RNAi as therapy for dominant neurodegenerative disease.
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