title: Association between Mitofusin 2 Gene Polymorphisms and Late-Onset Alzheimer's Disease in the Korean Population.
abstract: OBJECTIVE
  Mitochondrial dysfunction is a prominent and early feature of Alzheimer's disease (AD). The morphologic changes observed in the AD brain could be caused by a failure of mitochondrial fusion mechanisms. The aim of this study was to investigate whether genetic polymorphisms of two genes involved in mitochondrial fusion mechanisms, optic atrophy 1 (OPA1) and mitofusin 2 (MFN2), were associated with AD in the Korean population by analyzing genotypes and allele frequencies.
  
  
  METHODS
  One coding single nucleotide polymorphism (SNP) in theMFN2, rs1042837, and two coding SNPs in theOPA1, rs7624750 and rs9851685, were compared between 165 patients with AD (83 men and 82 women, mean age 72.3±4.41) and 186 healthy control subjects (82 men and 104 women, mean age 76.5±5.98).
  
  
  RESULTS
  Among these three SNPs, rs1042837 showed statistically significant differences in allele frequency, and genotype frequency in the co-dominant 1 model and in the dominant model.
  
  
  CONCLUSIONS
  These results suggest that the rs1042837 polymorphism inMFN2may be involved in the pathogenesis of AD.
authors.affiliation: Department of Neuropsychiatry, School of Medicine, Kyung Hee University, Seoul, Republic of Korea.
authors.forename: Young Jong
authors.initials: YJ
authors.lastname: Kim
authors.affiliation: Department of Neuropsychiatry, School of Medicine, Kyung Hee University, Seoul, Republic of Korea.
authors.forename: Jin Kyung
authors.initials: JK
authors.lastname: Park
authors.affiliation: Department of Neuropsychiatry, School of Medicine, Kyung Hee University, Seoul, Republic of Korea.
authors.forename: Won Sub
authors.initials: WS
authors.lastname: Kang
authors.affiliation: Kohwang Medical Research Institute, School of Medicine, Kyung Hee University, Seoul, Republic of Korea.
authors.forename: Su Kang
authors.initials: SK
authors.lastname: Kim
authors.affiliation: Psychiatric Department, Korea University Ansan Hospital, Ansan, Republic of Korea.
authors.forename: Changsu
authors.initials: C
authors.lastname: Han
authors.affiliation: Department of Neurology, Bobath Memorial Hospital, Seongnam, Republic of Korea.
authors.forename: Hae Ri
authors.initials: HR
authors.lastname: Na
authors.affiliation: Kohwang Medical Research Institute, School of Medicine, Kyung Hee University, Seoul, Republic of Korea.
authors.forename: Hae Jeong
authors.initials: HJ
authors.lastname: Park
authors.affiliation: Department of Neuropsychiatry, School of Medicine, Kyung Hee University, Seoul, Republic of Korea.
authors.forename: Jong Woo
authors.initials: JW
authors.lastname: Kim
authors.affiliation: Division of Brain Diseases, Center for Biomedical Science, National Institute of Health Osong Health Technology Administration Complex, Cheongju, Republic of Korea.
authors.forename: Young Youl
authors.initials: YY
authors.lastname: Kim
authors.affiliation: Department of Neurology, Korea University Ansan Hospital, Ansan, Republic of Korea.
authors.forename: Moon Ho
authors.initials: MH
authors.lastname: Park
authors.affiliation: Department of Neuropsychiatry, School of Medicine, Kyung Hee University, Seoul, Republic of Korea.
authors.forename: Jong-Woo
authors.initials: JW
authors.lastname: Paik
keywords: Alzheimer's disease; MFN2; Mitochondrial fusion