Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo.
Nat Genet
; 13(2): 196-202, 1996 Jun.
Article
em En
| MEDLINE
| ID: mdl-8640226
ABSTRACT
Recently, we identified a novel gene, MJD1, which contains an expanded CAG triplet repeat in Machado-Joseph disease. Here we report the induction of apoptosis in cultured cells expressing a portion of the MJD1 gene that includes the expanded CAG repeats. Cell death occurs only when the CAG repeat is translated into polyglutamine residues, which apparently precipitate in large covalently modified forms. We also created ataxic transgenic mice by expressing the expanded polyglutamine stretch in Purkinje cells. Our results demonstrate the potential involvement of the expanded polyglutamine as the common aetiological agent for inherited neurodegenerative diseases with CAG expansions.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Biossíntese Peptídica
/
Proteínas
/
Apoptose
/
Doença de Machado-Joseph
/
Proteínas do Tecido Nervoso
Tipo de estudo:
Prognostic_studies
Limite:
Animals
/
Humans
Idioma:
En
Ano de publicação:
1996
Tipo de documento:
Article