早老症

Hutchinson-Gilford Progeria Syndrome

早老症极其罕见,是一种由核纤层蛋白A(LMNA)基因突变引起的散发性常染色体显性遗传疾病。LMNA突变产生法尼基化的早老蛋白在不同组织中累积,引起过早衰老的特征性表现,包括硬皮病样皮肤改变、脱发、头皮静脉显露、骨关节异常和动脉粥样硬化。患者平均在14.6岁时死于心肌梗塞或卒中。本文会描述早老症的历史、发病机制、流行病学、临床特征、以及目前的治疗方法。对早老症的研究有助于我们对生理性衰老的理解。

Hutchinson-Gilford progeria syndrome(HGPS)is an extremely rare,sporadic,autosomal dominant genetic disorder caused by lamin A(LMNA)gene mutations.The farnesylated progerin which is produced by an activated cryptic splice donor site created by mutations in LMNA accumulates in different tissues and causes characteristic of premature ageing,like sclerodermoid change,alopecia,prominent scalp veins,bone and joint abnormalities,and atherosclerosis.HGPS patients mainly died of myocardial infarction or stroke at an average age of 14.6 years.Here we review the history,pathogenesis,epidemiology,clinical characteristics,and current treatment strategies of HGPS.The future mechanism study of HGPS will shed light on our understanding of physiological ageing.