结构预测支持的阿尔茨海默病中可能存在的新型PSEN2基因Val214Leu突变
Probable novel PSEN2 Val214Leu mutation in Alzheimer's disease supported by structural prediction.
作者信息
Youn Young Chul, Bagyinszky Eva, Kim HyeRyoun, Choi Byung-Ok, An Seong Soo, Kim SangYun
机构信息
Department of Bionano Technology, Gachon Bionano Research Institute, Gachon University, Seongnam-si, South Korea.
出版信息
BMC Neurol. 2014 May 15;14:105. doi: 10.1186/1471-2377-14-105.
BACKGROUND
PSEN2 mutations are rare variants, and fewer than 30 different PSEN2 mutations have been found. So far, it has not been reported in Asia.
CASE PRESENTATION
PSEN2 mutation at codon 214 for predicting a valine to leucine substitution was found in a 70-year-old woman, who showed a dementia of the Alzheimer type. We did not find the mutation in 614 control chromosomes. We also predicted the structures of presenilin 2 protein with native Val 214 residue and Leu 214 mutation, which revealed significant structural changes in the region.
CONCLUSION
It could be a novel mutation verified with structural prediction in a patient with Alzheimer's disease.
背景
PSEN2突变是罕见变异，已发现的不同PSEN2突变少于30种。迄今为止，亚洲尚未有相关报道。
病例报告
在一名70岁患阿尔茨海默型痴呆的女性中发现了第214密码子处的PSEN2突变，该突变预测缬氨酸被亮氨酸取代。在614条对照染色体中未发现此突变。我们还预测了具有天然Val 214残基和Leu 214突变的早老素2蛋白的结构，结果显示该区域有显著的结构变化。
结论
这可能是在一名阿尔茨海默病患者中经结构预测验证的新突变。
Zotero 插件