A comprehensive genetic study of the proteasomal subunit S6 ATPase in German Parkinson's disease patients.
J Neural Transm (Vienna)
; 115(8): 1141-8, 2008 Aug.
Article
en En
| MEDLINE
| ID: mdl-18446261
ABSTRACT
Dysfunction of proteasomal protein degradation is involved in neurodegeneration in Parkinson's disease (PD). Recently we identified the regulatory proteasomal subunit S6 ATPase as a novel interactor of synphilin-1, which is a substrate of the ubiquitin-ligase Parkin (PARK2) and an interacting protein of alpha-synuclein (PARK1). To further investigate a potential role in the pathogenesis of PD, we performed a detailed mutation analysis of the S6 ATPase gene in a large sample of 486 German sporadic and familial PD patients. Direct sequencing revealed two novel intronic variants. An insertion/deletion variant in intron 5 of the S6 ATPase gene was more frequent in patients compared to controls. Moreover, this variant was significantly more frequent in early-onset compared to late-onset PD patients. The identification of a genetic link between a regulatory proteasomal subunit and PD further underscores the relevance of disturbed protein degradation in PD.
Texto completo:
1
Colección:
01-internacional
Asunto principal:
Enfermedad de Parkinson
/
Adenosina Trifosfatasas
/
Complejo de la Endopetidasa Proteasomal
Límite:
Aged
/
Female
/
Humans
/
Male
/
Middle aged
País/Región como asunto:
Europa
Idioma:
En
Revista:
J Neural Transm (Vienna)
Año:
2008
Tipo del documento:
Article
País de afiliación:
Alemania