尼曼-匹克 C 型疾病的治疗试验。
Treatment trials in Niemann-Pick type C disease.
机构信息
Department of Genetics, Institute of Psychiatry and Neurology, Al. Sobieskiego 9, 02-957, Warsaw, Poland.
Department of Pediatric Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, 04-730, Warsaw, Poland.
出版信息
Metab Brain Dis. 2021 Dec;36(8):2215-2221. doi: 10.1007/s11011-021-00842-0. Epub 2021 Oct 1.
Abstract
Niemann-Pick type C (NPC) disease is a genetically determined neurodegenerative metabolic disease. It belongs to the lysosomal storage diseases and its main cause is impaired cholesterol transport in late endosomes or lysosomes. It is an autosomal recessive inherited disease that results from mutations in the NPC1 or NPC2 genes. The treatment efforts are focused on the slowing its progression. The only registered drug, devoted for NPC patients is Miglustat. Effective treatment is still under development. NPC disease mainly affects the nervous system, and the crossing of the blood-brain barrier by medicines is still a challenge, therefore the combination therapies of several compounds are increasingly being worked on. The aim of this paper is to present the possibilities in treatment of Niemann-Pick type C disease. The discussed research results relate to animal studies.
摘要
尼曼-匹克 C 型（NPC）疾病是一种遗传性神经退行性代谢疾病。它属于溶酶体贮积症，主要病因是晚期内体或溶酶体中胆固醇转运受损。该病为常染色体隐性遗传病，由 NPC1 或 NPC2 基因突变引起。治疗方法主要集中在减缓疾病进展上。目前唯一注册用于 NPC 患者的药物是米格列醇。有效的治疗方法仍在开发中。NPC 疾病主要影响神经系统，药物穿越血脑屏障仍然是一个挑战，因此越来越多的研究人员致力于联合使用多种化合物的治疗方法。本文旨在介绍 NPC 疾病的治疗可能性。讨论的研究结果与动物研究有关。
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