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
Department of Neuropsychiatry, School of Medicine, Kyung Hee University, Seoul, Republic of Korea.
Kohwang Medical Research Institute, School of Medicine, Kyung Hee University, Seoul, Republic of Korea.
Psychiatry Investig. 2017 Jan;14(1):81-85. doi: 10.4306/pi.2017.14.1.81. Epub 2016 Dec 29.
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 () and mitofusin 2 (), were associated with AD in the Korean population by analyzing genotypes and allele frequencies.
One coding single nucleotide polymorphism (SNP) in the , rs1042837, and two coding SNPs in the , 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).
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.
These results suggest that the rs1042837 polymorphism in may be involved in the pathogenesis of AD.
线粒体功能障碍是阿尔茨海默病（AD）的一个突出且早期的特征。AD大脑中观察到的形态学变化可能是由线粒体融合机制的失败引起的。本研究的目的是通过分析基因型和等位基因频率，调查参与线粒体融合机制的两个基因，即视神经萎缩1（OPA1）和线粒体融合蛋白2（MFN2）的基因多态性是否与韩国人群中的AD相关。
比较了165例AD患者（83名男性和82名女性，平均年龄72.3±4.41岁）和186名健康对照者（82名男性和104名女性，平均年龄76.5±5.98岁）中OPA1基因的一个编码单核苷酸多态性（SNP），rs1042837，以及MFN2基因的两个编码SNP，rs7624750和rs9851685。
在这三个SNP中，rs1042837在等位基因频率、共显性模型1和显性模型的基因型频率上显示出统计学上的显著差异。
这些结果表明，OPA1基因中的rs1042837多态性可能参与了AD的发病机制。
