title: PSMC1 Gene in Parkinson's Disease.
abstract: BACKGROUND
  Impairment of the ubiquitin-proteasome system has been suggested to play an important role in the pathogenesis of Parkinson's disease (PD). The 26S proteasome regulatory subunit 1 is encoded by the gene PSMC1 in humans. PSMC1 knockout mice showed a PD-like phenotype. Our aim was to analyze the association between variations in this gene and the susceptibility to develop PD.
  
  
  METHODS
  We included 283 PD patients (165 males and 118 females) with a mean age of 63.6±11.2 years (mean age at onset 55.4±12.7 years), and 316 unrelated control subjects (193 males and 123 females) with a mean age of 61.5±12.3 years. Four polymorphisms, providing haplotype information of PSMC1, were genotyped using TaqMan assays. Moreover, in order to identify new variations, all exons of the PSMC1 gene and their exon-intron boundaries were analyzed using high-resolution melting analysis.
  
  
  RESULTS
  Minor allele frequencies in PD patients and control subjects were similar. The gene coding sequence analysis showed no variation associated with the disease either.
  
  
  CONCLUSIONS
  Our results suggest that there is no association between variations or haplotypes in the PSMC1 gene and PD, indicating that this gene is probably not involved in the pathogenesis of PD.
authors.affiliation: Unidad de Trastornos del Movimiento, Servicio de Neurología y Neurofisiología, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Seville, Spain.
authors.forename: Pilar
authors.initials: P
authors.lastname: Gómez-Garre
authors.forename: Silvia
authors.initials: S
authors.lastname: Jesús
authors.forename: Fátima
authors.initials: F
authors.lastname: Carrillo
authors.forename: Maria Teresa
authors.initials: MT
authors.lastname: Cáceres-Redondo
authors.forename: Inmaculada
authors.initials: I
authors.lastname: Bernal-Bernal
authors.forename: Manuel
authors.initials: M
authors.lastname: Carballo
authors.forename: Lin
authors.initials: L
authors.lastname: Gao
authors.forename: Pablo
authors.initials: P
authors.lastname: Mir
mesh_terms: D000074183:ATPases Associated with Diverse Cellular Activities; D000251:Adenosine Triphosphatases / Q000235:genetics*; D000368:Aged; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D046988:Proteasome Endopeptidase Complex / Q000235:genetics*
chemical_list: D046988:Proteasome Endopeptidase Complex; C061553:ATP dependent 26S protease; D000251:Adenosine Triphosphatases; D000074183:ATPases Associated with Diverse Cellular Activities; C000609257:PSMC1 protein, human