Park Kyung Won, An Seong Soo, Bagyinszky Eva, Kim SangYun
Department of Neurology, Busan Metropolitan Dementia Center, Dong-A University College of Medicine, Busan.
Department of BioNano Technology and Gachon BioNano Research Institute, Gachon University.
Clin Interv Aging. 2017 Feb 13;12:367-375. doi: 10.2147/CIA.S128884. eCollection 2017.
A 49-year-old Korean male patient with dementia was diagnosed with probable early-onset Alzheimer's disease (AD). He presented with memory problems, personality changes, and disorientation. His family history of dementia was probably negative, since no family member with dementia was found or mentioned. Mild cortical atrophy was observed upon magnetic resonance imaging analyses of his brain, and the single-photon emission computed tomography analysis revealed hypoperfusion in the frontal, temporal, and limbic lobes. The patient was tested for mutations in , , , , , and genes. Genetic analysis revealed R62C mutation in gene. R62C mutation was previously reported in European populations, including Dutch and Belgian families with AD. Herein, we present the first case report of R62C mutation in Asia. PolyPhen-2 and SIFT software analyses predicted this mutation as "possibly damaging", suggesting its potential involvement with AD. In silico protein structural prediction analyses of R62 and C62 revealed two divergent structures, suggesting that large perturbations of R62C mutation might cause dysfunctions of , which may alter the normal amyloid production.
一名49岁患有痴呆症的韩国男性患者被诊断为可能患有早发性阿尔茨海默病（AD）。他出现了记忆问题、性格改变和定向障碍。他的痴呆家族史可能为阴性，因为未发现或提及有痴呆症的家庭成员。对其大脑进行磁共振成像分析时观察到轻度皮质萎缩，单光子发射计算机断层扫描分析显示额叶、颞叶和边缘叶灌注不足。对该患者进行了 、 、 、 、 和 基因的突变检测。基因分析显示 基因存在R62C突变。R62C突变此前在欧洲人群中报道过，包括患有AD的荷兰和比利时家族。在此，我们报告亚洲首例 R62C突变病例。PolyPhen-2和SIFT软件分析预测该突变“可能有害”，表明其可能与AD有关。对 R62和C62进行的计算机蛋白质结构预测分析显示出两种不同的结构，表明R62C突变的大扰动可能导致 功能障碍，这可能会改变正常的淀粉样蛋白生成。
