Foundation for Research in Genetics and Endocrinology, Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, Gujarat, India.
Curr Pharm Des. 2020;26(40):5110-5118. doi: 10.2174/1381612826666201015154932.
Lysosomal storage disorders comprise a group of approximately 70 types of inherited diseases resulting due to lysosomal gene defects. The outcome of the defect is a deficiency in either of the three: namely, lysosomal enzymes, activator protein, or transmembrane protein, as a result of which there is an unwanted accumulation of biomolecules inside the lysosomes. The pathophysiology of these conditions is complex affecting several organ systems and nervous system involvement in a majority of cases. Several research studies have well elucidated the mechanism underlying the disease condition leading to the development in devising the treatment strategies for the same. Currently, these approaches aim to reduce the severity of symptoms or delay the disease progression but do not provide a complete cure. The main treatment methods include Enzyme replacement therapy, Bone marrow transplantation, Substrate reduction therapy, use of molecular chaperones, and Gene therapy. This review article presents an elaborate description of these strategies and discusses the ongoing studies for the same.
溶酶体贮积症包括一组约 70 种遗传性疾病，这些疾病是由于溶酶体基因缺陷引起的。缺陷的结果是三种物质中的任何一种缺乏：即溶酶体酶、激活蛋白或跨膜蛋白，导致生物分子在溶酶体内部堆积。这些疾病的病理生理学很复杂，会影响多个器官系统，大多数情况下还会累及神经系统。一些研究很好地阐明了疾病发病机制，从而为制定治疗策略提供了依据。目前，这些方法旨在减轻症状的严重程度或延缓疾病进展，但并不能提供完全治愈。主要的治疗方法包括酶替代疗法、骨髓移植、底物减少疗法、分子伴侣的使用和基因治疗。本文详细介绍了这些策略，并讨论了相关的研究进展。
