鲜红斑痣相关基因及激酶的研究进展  

Research Progress of Port Wine Stains Related Genes and Kinases

作　　者：迪丽努尔·吾甫尔 丁媛[1] 康晓静[1] Dilinuer·WUFUER;DING Yuan;KANG Xiaojing(Xinjiang Key Laboratory of Dermatology Research,People′s Hospital of Xinjiang Uygur Autonomous Region,Urumqi 830001,China)

机构地区：[1]新疆维吾尔自治区人民医院新疆皮肤病研究重点实验室,乌鲁木齐830001

出　　处：《医学综述》2022年第6期1085-1090,共6页Medical Recapitulate

摘　　要：鲜红斑痣是一种体细胞基因突变疾病,这种突变可改变正常血管内皮细胞的功能,导致血管畸形。在大部分鲜红斑痣/Sturge-Weber综合征患者中存在鸟嘌呤核苷酸结合蛋白q多肽(GNAQ)基因体细胞突变位点,且突变与部分临床表现密切相关。推测GNAQ基因突变可作为早期鲜红斑痣的预测因子指导早期干预治疗。RAS p21蛋白激活因子1(RASA1)的体细胞“二次突变”与鲜红斑痣伴发综合征毛细血管-动静脉畸形的发病有关。基因突变引起下游通路中的促分裂原活化的蛋白激酶(MAPK)、磷脂酰肌醇-3-激酶(PI3K)等蛋白激酶活化,参与鲜红斑痣发生的不同阶段。深入研究鲜红斑痣相关GNAQ基因、RASA1基因和MAPK、PI3K等可为其早期诊断及分子治疗提供理论依据。Current research believes that port wine stains are a type of somatic genetic mutation that changes the function of normal vascular endothelial cells and leads to vascular malformations.Guanine nucleotide-binding protein G(q)subunit alpha(GNAQ)gene mutation is a somatic mutation site reported in most patients with port wine stains/Sturge-Weber syndrome,and is closely related to some clinical manifestations.It is speculated that GNAQ gene mutation can be used as a predictor of early port wine stain to guide early intervention and treatment.The somatic"second hit"of RAS p21 protein activator 1(RASA1)is related to the onset of port wine stains associated with capillary-arteriovenous malformations.The activation of protein kinases such as mitogen-activated protein kinase(MAPK)and phosphatidylinositol-3-kinase(PI3K)are involved in the different stages of port wine stains.In-depth research on port wine stains related GNAQ gene,RASA1 gene,MAPK,PI3K etc.provides a theoretical basis for its early diagnosis and molecular therapy.

关 键 词：鲜红斑痣 体细胞突变 鸟嘌呤核苷酸结合蛋白q多肽 RAS p21蛋白激活因子1 促分裂原活化的蛋白激酶 磷脂酰肌醇-3-激酶 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]