溶酶体贮积症的分子生物学机制

The molecular biological mechanism of lysosomal storage disorders

溶酶体贮积症(LSD)是一类遗传性代谢病,由于溶酶体内的酶、激活蛋白、转运蛋白或溶酶体蛋白加工校正酶的缺乏,引起溶酶体功能缺陷,代谢物不能被有效地消化和转运,在溶酶体中过度贮积所导致的疾病。溶酶体贮积症有50多种,临床表现从无明显症状到多器官衰竭甚至早年夭折,病变呈多系统性,表型呈多样性,因而容易被误诊或漏诊。本文综述近年来对溶酶体贮积症的研究进展、溶酶体贮积症的分类及其临床表型特征,并对糖原贮积病Ⅱ型、唾液酸贮积症、粘多糖贮积病的分子生物学机制进行了探讨。

Lysosomal storage disorders （LSD） are a group of inherited metabolic diseases, which are caused by abnormal accumulation of metabolites in lysosomes due to deficiency of lysosomal proteins such as enzymes, activating proteins, transporters, or lysosomal protein processing enzymes. There are more than 50 known lysosomal storage diseases,while the clinical presentations may vary from no symptoms to multiple organ failure or even death in early ages. The pathological changes are usually multi-systemic, resulting in a diversity of clinical phenotypes. Therefore, lysosomal storage diseases are often misdiag- nosed for others. This paper reviews the current advances in studies of lysosomal storage diseases with the focus on classification, clinical presentations, and the molecular biological mechanisms of Pompe＇s dis- ease, sialidosis and mucopolysaccharidosis.