Mutational analysis of TARDBP in neurodegenerative diseases.
Neurobiol Aging
; 32(11): 2096-9, 2011 Nov.
Article
em En
| MEDLINE
| ID: mdl-20031275
ABSTRACT
Neurodegenerative diseases are often characterized by the presence of aggregates of misfolded proteins. TDP-43 is a major component of these aggregates in amyotrophic lateral sclerosis (ALS), but has also been observed in Alzheimer's (AD) and Parkinson's Diseases (PD). In addition, mutations in the TARDBP gene, encoding TDP-43, have been found to be a significant cause of familial ALS (FALS). All mutations, except for one, have been found in exon 6. To confirm this observation in ALS and to investigate whether TARDBP may play a role in the pathogenesis of AD and PD, we screened for mutations in exon 6 of the TARDBP gene in three cohorts composed of 376 AD, 463 PD (18% familial PD) and 376 ALS patients (50% FALS). We found mutations in â¼ 7% of FALS and â¼0.5% of sporadic ALS (SALS) patients, including two novel mutations, p.N352T and p.G384R. In contrast, we did not find TARDBP mutations in our cohort of AD and PD patients. These results suggest that mutations in TARDBP are not a significant cause of AD and PD.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doença de Parkinson
/
Proteínas de Ligação a DNA
/
Doença de Alzheimer
/
Esclerose Lateral Amiotrófica
Limite:
Humans
Idioma:
En
Revista:
Neurobiol Aging
Ano de publicação:
2011
Tipo de documento:
Article
País de afiliação:
Estados Unidos