Pediatric Clinic, University Clinical Center of Kosovo, Prishtina, Kosovo.
Department of Genetics and Genomics, University Clinical Center Ljubljana, Slovenia.
Pediatr Endocrinol Diabetes Metab. 2021;27(3):201-208. doi: 10.5114/pedm.2021.109270.
Mucopolysaccharidoses (MPSs) are known as rare genetic diseases which are caused by mutation in the enzyme heparin sulfate, which normally leads to degradation and accumulation of glycosaminoglycans in the cells. There are 11 types of MPSs, whereby neuropathy may occur in seven of them (MPS I, II, IIIA, IIIB, IIIC, IIID and VII). Accumulation of degraded heparin sulfate in lysosomes causes cellular dysfunction and malfunction of several organs. However, the exact molecular mechanism how protein degradation and storage leads to cellular dysfunction is not understood, yet. Nonetheless, several genetic and biochemical methods for diagnosis of MPSs are available nowadays. Here we provide an overview on known molecular basis of MPS in general, including enzyme defects and symptoms of MPS; however, the main focus is on MPS type III together with potential and perspective therapy-options.
黏多糖贮积症（MPSs）是一种罕见的遗传性疾病，由肝素硫酸酯酶基因突变引起，通常导致细胞内糖胺聚糖的降解和积累。MPSs 共有 11 种类型，其中七种类型可能发生神经病变（MPS I、II、IIIA、IIIB、IIIC、IID 和 VII）。降解的肝素硫酸酯在溶酶体中的积累导致细胞功能障碍和多个器官的功能障碍。然而，目前尚不清楚蛋白降解和储存如何导致细胞功能障碍的确切分子机制。尽管如此，现在已经有几种用于 MPS 诊断的遗传和生化方法。本文概述了 MPS 的一般分子基础，包括酶缺陷和 MPS 的症状；然而，重点是 MPS 类型 III 以及潜在的和有前景的治疗选择。
