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Hutch inson-G ilford早老症(HGPS)为一种极为罕见的遗传性疾病,发生率1/8000000,特征性表现为患儿以极快速度衰老,多数死于冠脉病变引起的心肌梗死或广泛动脉粥样硬化导致的卒中,平均寿命13岁。绝大多数HGPS病例病因为LMNA基因第11个外显子发生点突变(G608G),生成的突变lam in A由显性负效应造成细胞核结构和功能受损。目前该病已有几种动物模型,实验性治疗可以在体外将出泡的细胞核恢复正常。HGPS是研究衰老和心血管疾病机制的一个极好的模型。
Hutch inson-G ilford (HGPS) is a rare genetic disease, the incidence of 1/8000000, characterized by the rapid aging of children with children, most died of coronary heart disease caused by myocardial infarction or extensive Atherosclerosis-induced stroke, with an average life expectancy of 13 years. The vast majority of HGPS cases are caused by a point mutation (G608G) in the 11th exon of the LMNA gene and the resulting mutation in lam in A is impaired by the dominant negative effect on the nuclear structure and function. There are several animal models of the disease so far, and experimental treatment can return the vacuolished nuclei to normal in vitro. HGPS is an excellent model for studying the mechanisms of aging and cardiovascular disease.