Glycosaminoglycan storage disorders: a review.
Glycosaminoglycan storage disorders: a review.
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DOI：
10.1155/2012/471325
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发表时间：
2012
影响因子：
3
通讯作者：
Alves S
中科院分区：
文献类型：
--
作者：
Coutinho MF;Lacerda L;Alves S
糖胺聚糖（GAG）降解受损，随后未降解产物在溶酶体内蓄积，导致一组称为粘多糖贮积症（MPS）的溶酶体贮积症。典型地，MPS通过部分降解的GAG在尿液中的排泄增加来识别，其最终导致进行性细胞、组织和器官功能障碍。有11种不同的酶参与GAG的逐步降解。这些酶中的每一种的缺陷都会导致七种不同的MPS，尽管程度不同，但它们都有一系列共同的临床特征。MPS通常以慢性和进行性病程为特征，具有不同程度的严重性。典型症状包括器官肿大、多发性成骨不全和面部粗糙。中枢神经系统，听力，视力和心血管功能也可能受到影响。在这里，我们提供了一个概述的分子基础，酶的缺陷，临床表现，和诊断的每一个MPS，还侧重于现有的动物模型，并描述了潜在的前景，每一个治疗。
Impaired degradation of glycosaminoglycans (GAGs) with consequent intralysosomal accumulation of undegraded products causes a group of lysosomal storage disorders known as mucopolysaccharidoses (MPSs). Characteristically, MPSs are recognized by increased excretion in urine of partially degraded GAGs which ultimately result in progressive cell, tissue, and organ dysfunction. There are eleven different enzymes involved in the stepwise degradation of GAGs. Deficiencies in each of those enzymes result in seven different MPSs, all sharing a series of clinical features, though in variable degrees. Usually MPS are characterized by a chronic and progressive course, with different degrees of severity. Typical symptoms include organomegaly, dysostosis multiplex, and coarse facies. Central nervous system, hearing, vision, and cardiovascular function may also be affected. Here, we provide an overview of the molecular basis, enzymatic defects, clinical manifestations, and diagnosis of each MPS, focusing also on the available animal models and describing potential perspectives of therapy for each one.