title: The PLA2G6 gene in early-onset Parkinson's disease.
abstract: BACKGROUND
  The definite etiology of neurodegenerative disorders such as Parkinson's disease (PD) is still unknown. Because of its role in the generation of reactive oxygen species and its association with neurodegeneration with brain iron accumulation, a possible involvement of calcium-independent group VI phospholipase A(2) (iPLA(2)-VI) in the pathogenesis of PD has been proposed.
  
  
  METHODS
  In this study we analyzed all 17 exons of the PLA2G6 gene encoding iPLA(2)-VI in a group of 102 discordant pairs with early-onset Parkinson's disease (EOPD) and an additional sample of 166 EOPD patients and 155 unrelated controls.
  
  
  RESULTS
  The nonsynonymous single-nucleotide polymorphisms (SNPs) 2339A>G (n = 2) and 2341G>A (n = 1) in 2 neighboring codons were found in 3 patients with typical L-dopa-responsive sporadic EOPD and in none of our controls, indicating a possible role of PLA2G6 in the pathogenesis of EOPD in rare cases.
  
  
  CONCLUSIONS
  Future studies should investigate the prevalence of these SNPs in other PD populations and larger control groups and also address possible genetic alterations in the remaining parts of the PLA2G6 gene.
authors.affiliation: Department of Neurology, Philipps University, Marburg, Germany.
authors.forename: Kai Michael
authors.initials: KM
authors.lastname: Kauther
authors.forename: Christine
authors.initials: C
authors.lastname: Höft
authors.forename: Ida
authors.initials: I
authors.lastname: Rissling
authors.forename: Wolfgang H
authors.initials: WH
authors.lastname: Oertel
authors.forename: Jens Carsten
authors.initials: JC
authors.lastname: Möller
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D002118:Calcium / Q000502:physiology; D005091:Exons / Q000235:genetics; D005260:Female; D006580:Genetic Carrier Screening; D020022:Genetic Predisposition to Disease; D054522:Group VI Phospholipases A2 / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D010300:Parkinson Disease / Q000145:classification / Q000201:enzymology* / Q000235:genetics*; D010865:Pilot Projects; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D055815:Young Adult
chemical_list: D054522:Group VI Phospholipases A2; D002118:Calcium