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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 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.

SUBMITTER: Kim YJ 

PROVIDER: S-EPMC5240455 | biostudies-literature | 2017 Jan

REPOSITORIES: biostudies-literature

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

Kim Young Jong YJ   Park Jin Kyung JK   Kang Won Sub WS   Kim Su Kang SK   Han Changsu C   Na Hae Ri HR   Park Hae Jeong HJ   Kim Jong Woo JW   Kim Young Youl YY   Park Moon Ho MH   Paik Jong-Woo JW  

Psychiatry investigation 20161229 1


<h4>Objective</h4>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 (<i>OPA1</i>) and mitofusin 2 (<i>MFN2</i>), were associated with AD in the Korean population by analyzing genotypes and allele frequen  ...[more]

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