溶酶体贮积症的研究进展

溶酶体贮积症是一种罕见的遗传缺陷疾病,溶酶体内未酶解的大分子累积,最终导致细胞功能障碍和临床异常情况。许多溶酶体底物在细胞结构和功能上都有关键的作用,因此溶酶体功能失常的影响非常广泛,如神经受累、间质受累、网状内皮组织受累及胎儿水肿。治疗方法主要有骨髓移植、酶替代疗法、底物减少治疗、基因治疗和分子伴侣治疗。利用转基因及其他一些前沿技术,将有可能彻底根除这些长期困扰人类的溶酶体贮积症。

Progress in Lysosomal Storage Diseases Research

Lysosomal storage diseases（LSD） are a group of heritable rare heterogeneous human disorders characterized by the accumulation of undigested macromolecules intralysosomally,which results in cellular dysfunction and clinical abnormalities.Many lysosomal substrates play key roles in maintaining cellular structure and function.Consequently,the effects of lysosomal malfunction are widespread,including neurological involvement,mesenchymal involvement,reticuloendothelial involvement and hydrops fetalis.There are several methods for LSD therapy such as bone marrow transplantation,enzyme replacement therapy,substrate reduction therapy,gene therapy and chaperone therapy.LSD will be thoroughly cleared up by resorting to transgenic technology or other advanced technologies.