遗传性脑小血管病常见病的基因变异研究进展

Research Progress in Genetic Variation of Common Hereditary Cerebral Small Vessel Diseases

遗传性脑小血管病是由基因变异导致的脑小血管病变,常见的疾病包括伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病、伴有皮质下梗死和白质脑病的脑常染色体隐性遗传性脑动脉病、脑淀粉样血管病、法布里病等。NOTCH3、HTRA1、SRPX1、GLA等基因变异可导致脑小血管的损害。遗传分析是诊断遗传性脑小血管病的金标准,导致脑小血管损害的基因变异数量极多且复杂,因此对基因变异所导致的血管损害机制的研究既可为遗传性脑小血管诊断提供理论依据,也可为遗传性脑小血管病的防治提供更多的治疗靶点和指明方向。

Hereditary cerebral small vessel disease,including autosomal dominant hereditary cerebral arteriopathy with subcortical infarction and leukoencephalopathy,autosomal recessive hereditary cerebral arteriopathy with subcortical infarction and leukoencephalopathy,cerebral amyloid angiopathy,Fabry disease and so on,is a kind of cerebrovascular disease caused by gene mutation.Variations in NOTCH3,HTRA1,SRPX1,GLA and other genes can cause damage to cerebral small vessels.Genetic analysis is the gold standard for the diagnosis of hereditary cerebrovascular disease.The number and variety of gene mutations leading to cerebrovascular damage is numerous and complex,yherefore,the study of the mechanisms of gene mutation-induced vascular damage can provide theoretical basis for the diagnosis of hereditary cerebral small vessel disease,and more therapeutic targets and directions for the prevention and treatment.