Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosis.
J Med Genet
; 46(2): 112-4, 2009 Feb.
Article
en En
| MEDLINE
| ID: mdl-18931000
AIMS AND BACKGROUND: Mutations in the TARDBP gene, which encodes the TAR DNA binding protein (TDP-43), have been described in individuals with familial and sporadic amyotrophic lateral sclerosis (ALS). We screened the TARDBP gene in 285 French sporadic ALS patients to assess the frequency of TARDBP mutations in ALS. RESULTS: Six individuals had potentially deleterious mutations of which three were novel including a Y374X truncating mutation and P363A and A382P missense mutations. This suggests that TARDBP mutations may predispose to ALS in approximately 2% of the individuals followed in this study. CONCLUSION: Our findings, combined with those from other collections, brings the total number of mutations in unrelated ALS patients to 17, further suggesting that mutations in the TARDBP gene have an important role in the pathogenesis of ALS.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Proteínas de Unión al ADN
/
Esclerosis Amiotrófica Lateral
/
Mutación
Tipo de estudio:
Etiology_studies
/
Incidence_studies
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Observational_studies
/
Risk_factors_studies
Límite:
Female
/
Humans
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Male
/
Middle aged
Idioma:
En
Revista:
J Med Genet
Año:
2009
Tipo del documento:
Article
País de afiliación:
Canadá
Pais de publicación:
Reino Unido