Association between mitofusin 2 gene polymorphisms and late-onset Alzheimer’s disease in the Korean population

Young Jong Kim, Jin Kyung Park, Won Sub Kang, Su Kang Kim, Changsu Han, Hae Ri Na, Hae Jeong Park, Jong Woo Kim, Young Youl Kim, Moon Ho Park, Jong Woo Paik

Research output: Contribution to journalArticle

5 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)81-85
Number of pages5
JournalPsychiatry Investigation
Volume14
Issue number1
DOIs
Publication statusPublished - 2017 Jan 1

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Alzheimer Disease
Autosomal Dominant Optic Atrophy
Mitochondrial Dynamics
Single Nucleotide Polymorphism
Population
Genes
Gene Frequency
Genotype
Genetic Polymorphisms
Healthy Volunteers
Brain

Keywords

  • Alzheimer’s disease
  • MFN2
  • Mitochondrial fusion

ASJC Scopus subject areas

  • Psychiatry and Mental health
  • Biological Psychiatry

Cite this

Association between mitofusin 2 gene polymorphisms and late-onset Alzheimer’s disease in the Korean population. / Kim, Young Jong; Park, Jin Kyung; Kang, Won Sub; Kim, Su Kang; Han, Changsu; Na, Hae Ri; Park, Hae Jeong; Kim, Jong Woo; Kim, Young Youl; Park, Moon Ho; Paik, Jong Woo.

In: Psychiatry Investigation, Vol. 14, No. 1, 01.01.2017, p. 81-85.

Research output: Contribution to journalArticle

Kim, Young Jong ; Park, Jin Kyung ; Kang, Won Sub ; Kim, Su Kang ; Han, Changsu ; Na, Hae Ri ; Park, Hae Jeong ; Kim, Jong Woo ; Kim, Young Youl ; Park, Moon Ho ; Paik, Jong Woo. / Association between mitofusin 2 gene polymorphisms and late-onset Alzheimer’s disease in the Korean population. In: Psychiatry Investigation. 2017 ; Vol. 14, No. 1. pp. 81-85.
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AB - 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.

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