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

doi:10.4306/pi.2017.14.1.81

. 2017 Jan;14(1):81-85.

doi: 10.4306/pi.2017.14.1.81. Epub 2016 Dec 29.

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

Affiliations

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

PMID: 28096879
PMCID: PMC5240455
DOI: 10.4306/pi.2017.14.1.81

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

Young Jong Kim et al. Psychiatry Investig. 2017 Jan.

. 2017 Jan;14(1):81-85.

doi: 10.4306/pi.2017.14.1.81. Epub 2016 Dec 29.

Authors

Affiliations

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

PMID: 28096879
PMCID: PMC5240455
DOI: 10.4306/pi.2017.14.1.81

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.

Keywords: Alzheimer's disease; MFN2; Mitochondrial fusion.

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Figures

**Figure 1. Map of three polymorphisms under investigation.**

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References

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[1] Santos RX, Correia SC, Wang X, Perry G, Smith MA, Moreira PI, et al. A synergistic dysfunction of mitochondrial fission/fusion dynamics and mitophagy in Alzheimer's disease. J Alzheimers Dis. 2010;20(Suppl 2):S401–S412. - PMC - PubMed

[2] Santos RX, Correia SC, Wang X, Perry G, Smith MA, Moreira PI, et al. A synergistic dysfunction of mitochondrial fission/fusion dynamics and mitophagy in Alzheimer's disease. J Alzheimers Dis. 2010;20(Suppl 2):S401–S412. - PMC - PubMed

[3] Swerdlow RH, Burns JM, Khan SM. The Alzheimer's disease mitochondrial cascade hypothesis. J Alzheimers Dis. 2010;20(Suppl 2):S265–S279. - PMC - PubMed

[4] Swerdlow RH, Burns JM, Khan SM. The Alzheimer's disease mitochondrial cascade hypothesis. J Alzheimers Dis. 2010;20(Suppl 2):S265–S279. - PMC - PubMed

[5] Leuner K, Schulz K, Schutt T, Pantel J, Prvulovic D, Rhein V, et al. Peripheral mitochondrial dysfunction in Alzheimer's disease: focus on lymphocytes. Mol Neurobiol. 2012;46:194–204. - PubMed

[6] Leuner K, Schulz K, Schutt T, Pantel J, Prvulovic D, Rhein V, et al. Peripheral mitochondrial dysfunction in Alzheimer's disease: focus on lymphocytes. Mol Neurobiol. 2012;46:194–204. - PubMed

[7] Hoppins S, Lackner L, Nunnari J. The machines that divide and fuse mitochondria. Annu Rev Biochem. 2007;76:751–780. - PubMed

[8] Hoppins S, Lackner L, Nunnari J. The machines that divide and fuse mitochondria. Annu Rev Biochem. 2007;76:751–780. - PubMed

[9] Baloyannis SJ. Mitochondrial alterations in Alzheimer's disease. J Alzheimers Dis. 2006;9:119–126. - PubMed

[10] Baloyannis SJ. Mitochondrial alterations in Alzheimer's disease. J Alzheimers Dis. 2006;9:119–126. - PubMed

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

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

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