title: PINK1 mutation heterozygosity and the risk of Parkinson's disease.
abstract: BACKGROUND
  Mutations in the PTEN-induced kinase 1 (PINK1) gene have been identified in recessively inherited and sporadic early-onset parkinsonism (EOP).
  
  
  METHODS
  A total of 131 Norwegian patients diagnosed with Parkinson's disease were included. Of them, 89 participants had EOP (onset < or = 50 years); the remaining had familial late-onset disease (mean age at onset 64 years). PINK1 analysis included sequencing and gene dose assessment. Mutations were examined in 350 controls.
  
  
  RESULTS
  Heterozygous missense mutations in PINK1 were found in 3 of 131 patients; none of the patients carried homozygous or compound heterozygous mutations. One of these three patients had a father affected by Parkinson's disease, and he carried the mutation. Three new and seven known polymorphic variants were identified, although none seemed to be associated with disease risk.
  
  
  CONCLUSIONS
  PINK1 mutations are rare in Norwegian patients with EOP and familial Parkinson's disease. However, the data suggest that some heterozygous mutations might increase the risk of developing Parkinson's disease.
authors.affiliation: Department of Neuroscience, Norwegian University of Science and Technology (NTNU), N-7489 Trondheim, Norway. mathias.toft@ntnu.no
authors.forename: M
authors.initials: M
authors.lastname: Toft
authors.forename: R
authors.initials: R
authors.lastname: Myhre
authors.forename: L
authors.initials: L
authors.lastname: Pielsticker
authors.forename: L R
authors.initials: LR
authors.lastname: White
authors.forename: J O
authors.initials: JO
authors.lastname: Aasly
authors.forename: M J
authors.initials: MJ
authors.lastname: Farrer
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D005260:Female; D018628:Gene Dosage; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D009664:Norway; D010300:Parkinson Disease / Q000235:genetics*; D011494:Protein Kinases / Q000235:genetics*; D012307:Risk Factors; D000099202:PTEN-Induced Putative Kinase
chemical_list: D011494:Protein Kinases; D000099202:PTEN-Induced Putative Kinase