The mucopolysaccharidoses: a success of molecular medicine
The mucopolysaccharidoses: a success of molecular medicine
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DOI：
10.1017/s1462399408000550
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发表时间：
2008-01-18
影响因子：
6.2
通讯作者：
Clarke, Lorne A.
中科院分区：
文献类型：
--
作者：
Clarke, Lorne A.
粘多糖贮积症是一组毁灭性的溶酶体贮积病，影响大约二万五千分之一的个体。过去 25 年中生物化学和遗传学的进展已经鉴定出粘多糖贮积症背后的关键水解酶，随后对相关基因进行了分离和表征。最终，这些进展导致最近以直接酶替代的形式开发了针对某些粘多糖症的特定治疗方案。已经尝试直接替换有缺陷的基因产物来治疗极少数遗传性疾病，因此通过开发、评估治疗方案并将其整合到医疗保健中，在溶酶体贮积病中获得的经验对于其他罕见遗传性疾病具有指导意义。本综述重点关注粘多糖贮积症的病理生理学，并强调疾病表型背后复杂的生化和生理扰动。
The mucopolysaccharidoses represent a devastating group of lysosomal storage diseases affecting approximately 1 in 25 000 individuals. Advances in biochemistry and genetics over the past 25 years have resulted in the identification of the key hydrolases underlying the mucopolysaccharidoses, with subsequent isolation and characterisation of the genes involved. Ultimately these advances have led to the recent development of specific treatment regimens for some of the mucopolysaccharidoses, in the form of direct enzyme replacement. Direct replacement of the defective gene product has been attempted for very few genetic disorders, and thus the experience gained in the lysosomal storage diseases by the development, evaluation and integration of treatment regimens into healthcare is instructive for other rare genetic disorders. This review focuses on the pathophysiology of the mucopolysaccharidoses and highlights the complex biochemical and physiological perturbations that underlie the disease phenotype.