RNA interference mitigates motor and neuropathological deficits in a cerebellar mouse model of machado-joseph disease.
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Version: author
Serval ID
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Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
RNA interference mitigates motor and neuropathological deficits in a cerebellar mouse model of machado-joseph disease.
Journal
Plos One
ISSN
1932-6203 (Electronic)
ISSN-L
1932-6203
Publication state
Published
Issued date
2014
Peer-reviewed
Oui
Volume
9
Number
8
Pages
e100086
Language
english
Notes
Publication types: Journal Article Publication Status: epublish
Abstract
Machado-Joseph disease or Spinocerebellar ataxia type 3 is a progressive fatal neurodegenerative disorder caused by the polyglutamine-expanded protein ataxin-3. Recent studies demonstrate that RNA interference is a promising approach for the treatment of Machado-Joseph disease. However, whether gene silencing at an early time-point is able to prevent the appearance of motor behavior deficits typical of the disease when initiated before onset of the disease had not been explored. Here, using a lentiviral-mediated allele-specific silencing of mutant ataxin-3 in an early pre-symptomatic cerebellar mouse model of Machado-Joseph disease we show that this strategy hampers the development of the motor and neuropathological phenotypic characteristics of the disease. At the histological level, the RNA-specific silencing of mutant ataxin-3 decreased formation of mutant ataxin-3 aggregates, preserved Purkinje cell morphology and expression of neuronal markers while reducing cell death. Importantly, gene silencing prevented the development of impairments in balance, motor coordination, gait and hyperactivity observed in control mice. These data support the therapeutic potential of RNA interference for Machado-Joseph disease and constitute a proof of principle of the beneficial effects of early allele-specific silencing for therapy of this disease.
Pubmed
Web of science
Open Access
Yes
Create date
25/09/2014 16:54
Last modification date
20/08/2019 16:00