Evaluating the prevalence of polyglutamine repeat expansions in amyotrophic lateral sclerosis.
Neurology
; 76(24): 2062-5, 2011 Jun 14.
Article
em En
| MEDLINE
| ID: mdl-21562248
ABSTRACT
OBJECTIVE:
Given the recent finding of an association between intermediate-length polyglutamine (polyQ) expansions in ataxin 2 and amyotrophic lateral sclerosis (ALS), we sought to determine whether expansions in other polyQ disease genes were associated with ALS.METHODS:
We assessed the polyQ lengths of ataxin 1, ataxin 3, ataxin 6, ataxin 7, TBP, atrophin 1, and huntingtin in several hundred patients with sporadic ALS and healthy controls.RESULTS:
Other than ataxin 2, we did not identify a significant association with the other polyQ genes and ALS.CONCLUSIONS:
These data indicate that the effects of ataxin 2 polyQ expansions on ALS risk are likely to be rooted in the biology of ataxin 2 or ataxin 2-specific interactions, rather than the presence of an expanded polyQ repeat per se. These findings have important consequences for understanding the role of ataxin 2 in ALS pathogenesis and provide a framework for future mechanistic studies.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Peptídeos
/
Expansão das Repetições de DNA
/
Esclerose Lateral Amiotrófica
Tipo de estudo:
Prevalence_studies
/
Prognostic_studies
/
Risk_factors_studies
Limite:
Humans
Idioma:
En
Revista:
Neurology
Ano de publicação:
2011
Tipo de documento:
Article
País de afiliação:
Estados Unidos