Department of Biochemistry, Institute of Science, Banaras Hindu University, Varanasi, 221005, India.
Department of Pathology and Cell Biology, Columbia University Medical Centre, Columbia University, New York, NY, 10032, USA.
Neurotox Res. 2019 Oct;36(3):612-626. doi: 10.1007/s12640-019-00087-x. Epub 2019 Jul 11.
Huntington's disease (HD) is a fatal autosomal dominantly inherited brain disease caused by excessively expanded CAG repeats in gene which encodes huntingtin protein. These abnormally encoded huntingtin proteins and their truncated fragments result in disruption of cellular quality mechanism ultimately triggering neuronal death. Despite great efforts, a potential causative agent leading to genetic mutation in HTT, manifesting the neurons more prone to oxidative stress, cellular inflammation, energy depletion and apoptotic death, has not been established yet. Current scenario concentrates on symptomatic pathologies to improvise the disease progression and to better the survival. Most of the therapeutic developments have been converged to rescue the protein homeostasis. In HD, abnormal expansion of glutamine repeats in the protein huntingtin leads to toxic aggregation of huntingtin which in turn impairs the quality control mechanism of cells through damaging the machineries involved in removal of aggregated abnormal protein. Therapeutic approaches to improve the efficiency of aggregate clearance through quality control mechanisms involve protein folding machineries such as chaperones and protein degradation machineries such as proteasome and autophagy. Also, to reduce protein aggregation by enhancing proper folding, to degrade and eliminate the aggregates are suggested to negatively regulate the HD progression associated with the disruption of protein homeostasis. This review focuses on the collection of therapeutic strategies targeting enhancement of protein quality control activity to delay the HD pathogenesis.
亨廷顿病(HD)是一种致命的常染色体显性遗传脑疾病,由编码亨廷顿蛋白的基因中 CAG 重复序列过度扩展引起。这些异常编码的亨廷顿蛋白及其截断片段导致细胞质量机制紊乱,最终引发神经元死亡。尽管付出了巨大努力,但尚未确定导致 HTT 基因突变的潜在原因,表现为神经元更容易受到氧化应激、细胞炎症、能量耗竭和细胞凋亡的影响。目前的情况集中在症状性病理学上,以改善疾病进展并提高生存率。大多数治疗方法的发展都集中在拯救蛋白质的动态平衡上。在 HD 中,蛋白质亨廷顿中的谷氨酰胺重复异常扩展导致亨廷顿的毒性聚集,进而通过破坏参与清除异常聚集蛋白的机器来损害细胞的质量控制机制。通过质量控制机制提高聚集物清除效率的治疗方法包括伴侣蛋白等蛋白质折叠机制和蛋白酶体和自噬等蛋白质降解机制。此外,通过增强适当折叠来减少蛋白质聚集,降解和消除聚集体被认为可以负调控与蛋白质动态平衡破坏相关的 HD 进展。这篇综述重点介绍了针对增强蛋白质质量控制活性以延缓 HD 发病机制的治疗策略。