Psychiatry Investig.  2017 Jan;14(1):81-85. 10.4306/pi.2017.14.1.81.

Association between Mitofusin 2 Gene Polymorphisms and Late-Onset Alzheimer's Disease in the Korean Population

Affiliations
  • 1Department of Neuropsychiatry, School of Medicine, Kyung Hee University, Seoul, Republic of Korea. paikjw@gmail.com
  • 2Kohwang Medical Research Institute, School of Medicine, Kyung Hee University, Seoul, Republic of Korea.
  • 3Psychiatric Department, Korea University Ansan Hospital, Ansan, Republic of Korea.
  • 4Department of Neurology, Bobath Memorial Hospital, Seongnam, Republic of Korea.
  • 5Division of Brain Diseases, Center for Biomedical Science, National Institute of Health Osong Health Technology Administration Complex, Cheongju, Republic of Korea.
  • 6Department of Neurology, Korea University Ansan Hospital, Ansan, Republic of Korea.

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 the MFN2, rs1042837, and two coding SNPs in the OPA1, 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.
CONCLUSION
These results suggest that the rs1042837 polymorphism in MFN2 may be involved in the pathogenesis of AD.

Keyword

MFN2; Mitochondrial fusion; Alzheimer's disease
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