一个早发型家族性AD家系基因与脑葡萄糖代谢分析  

AN ANALYSIS OF GENE MUTATION AND CEREBRAL GLUCOSE METABOLISM IN A FAMILY WITH EARLY-ONSET FAMI-LIAL ALZHEIMER DISEASE

作　　者：张雅梦 宋敬卉[1] 朱晓岩[2] 孙雪纯 程雨菲 马爱军[1] ZHANG Yameng;SONG Jinghui;ZHU Xiaoyan;SUN Xuechun;CHENG Yufei;MA Aijun(Department of Neurology,The Affiliated Hospital of the Qingdao University,Qingdao 266100,China)

机构地区：[1]青岛大学附属医院神经内科,山东青岛2661001 [2]青岛大学附属医院重症医学科,山东青岛2661001

出　　处：《青岛大学学报（医学版）》2020年第6期662-666,共5页Journal of Qingdao University(Medical Sciences)

基　　金：山东省科技攻关项目(2012G0021842)。

摘　　要：目的分析一个早发型家族性阿尔茨海默病(AD)家系的大脑葡萄糖代谢特点并明确其基因诊断。方法收集并分析该家系成员的临床资料,对该家系中现存活的4例病人进行18 F-FDG PET脑显像,分析其大脑葡萄糖代谢特点,应用二代测序及Sanger测序方法检测早老素蛋白1(PSEN1)基因突变位点。结果 AD病人大脑葡萄糖代谢特点为双侧额叶、颞顶联合皮质区、颞叶外侧部及皮质下结构的代谢减低。Sanger测序发现此家系携带PSEN1基因突变(c.417G>c,p.M139I),为错义突变。结论 本研究在中国人群中首次报道了PSEN1基因p.M139I位点突变,扩大了PSEN1基因突变谱,该位点突变可能导致早发型家族性AD。ObjectiveTo investigate the features of cerebral glucose metabolism and genetic diagnosis of a family with early-onset familial Alzheimer disease(AD).MethodsClinical data were collected from the members of this family,and 18 F-FDG PET brain imaging was performed for the four surviving patients in this family to analyze the features of cerebral glucose metabolism.Next-generation sequencing and Sanger sequencing were used to detect the mutation sites of the presenilin 1(PSEN1)gene.ResultsThe features of cerebral glucose metabolism were reductions in metabolism in the bilateral frontal lobes,the temporoparietal cortex,the lateral temporal lobe,and the subcortical structure in the patients with AD.Sanger sequencing showed that this family carried a missense mutation of the PSEN1 gene(c.417G>C,p.M139I).ConclusionThis study reports the p.M139I mutation of the PSEN1 gene in the Chinese population for the first time,which expands the mutation spectrum of the PSEN1 gene,and mutation at this site may lead to early-onset familial AD.

关 键 词：阿尔茨海默病 早老素1 突变 大脑 葡萄糖代谢障碍 氟脱氧葡萄糖F18 

分 类 号：R745.7[医药卫生—神经病学与精神病学] R394[医药卫生—临床医学]