Dodge James C
Neuroscience Therapeutic Area, Sanofi, Framingham, MA, United States.
Front Mol Neurosci. 2017 Nov 3;10:356. doi: 10.3389/fnmol.2017.00356. eCollection 2017.
Lysosomal storage diseases (LSDs) are a heterogeneous group of rare inherited metabolic diseases that are frequently triggered by the accumulation of lipids inside organelles of the endosomal-autophagic-lysosomal system (EALS). There is now a growing realization that disrupted lysosomal homeostasis (i.e., lysosomal cacostasis) also contributes to more common neurodegenerative disorders such as Parkinson disease (PD). Lipid deposition within the EALS may also participate in the pathogenesis of some additional neurodegenerative diseases of the motor system. Here, I will highlight the lipid abnormalities and clinical manifestations that are common to LSDs and several diseases of the motor system, including amyotrophic lateral sclerosis (ALS), atypical forms of spinal muscular atrophy, Charcot-Marie-Tooth disease (CMT), hereditary spastic paraplegia (HSP), multiple system atrophy (MSA), PD and spinocerebellar ataxia (SCA). Elucidating the underlying basis of intracellular lipid mislocalization as well as its consequences in each of these disorders will likely provide innovative targets for therapeutic research.
溶酶体贮积症(LSDs)是一组异质性罕见遗传性代谢疾病,常由内体-自噬-溶酶体系统(EALS)细胞器内脂质蓄积引发。如今,人们越来越认识到溶酶体稳态破坏(即溶酶体功能紊乱)也会导致帕金森病(PD)等更常见的神经退行性疾病。EALS内的脂质沉积也可能参与运动系统其他一些神经退行性疾病的发病机制。在此,我将重点介绍LSDs与几种运动系统疾病(包括肌萎缩侧索硬化症(ALS)、非典型脊髓性肌萎缩症、夏科-马里-图斯病(CMT)、遗传性痉挛性截瘫(HSP)、多系统萎缩症(MSA)、PD和脊髓小脑共济失调(SCA))共有的脂质异常和临床表现。阐明细胞内脂质错误定位的潜在基础及其在每种疾病中的后果,可能会为治疗研究提供创新靶点。