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

• 발행기관: 대한신경정신의학회
• 저자명: YoungJong Kim JinKyung Park WonSub Kang SuKang Kim Changsu Han HaeRi Na HaeJeong Park JongWoo Kim Yo
• 간행물 정보: 『Psychiatry Investigation』제14권 제1호, 81~85쪽, 전체 5쪽
• 주제분류: 의약학 > 정신과학
• 파일형태: PDF
• 발행일자: 2017.01.31

영문 초록

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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INTRODUCTION

METHODS

RESULTS

DISCUSSION

ACKNOWLEDGEMENTS

REFERENCES

키워드

MFN2 Mitochondrial fusion Alzheimer’s disease