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亨廷顿病的线粒体基础:治疗前景。

A mitochondrial basis for Huntington's disease: therapeutic prospects.

机构信息

Laboratory of Clinical and Experimental Neuroscience, Division of Cell Biology & Physiology, CSIR-Indian Institute of Chemical Biology, Rooms 117&119, 4, Raja S. C. Mullick Road, Kolkata, 700 032, India.

出版信息

Mol Cell Biochem. 2014 Apr;389(1-2):277-91. doi: 10.1007/s11010-013-1951-9. Epub 2013 Dec 29.

Abstract

Huntington's disease (HD) is an autosomal dominant disease, with overt movement dysfunctions. Despite focused research on the basis of neurodegeneration in HD for last few decades, the mechanism for the site-specific lesion of neurons in the brain is not clear. All the explanations that partially clarify the phenomenon of neurodegeneration leads to one organelle, mitochondrion, which is severely affected in HD at the level of electron transport chain, Ca(2+) buffering efficiency and morphology. But, with the existing knowledge, it is not clear whether the cell death processes in HD initiate from mitochondria, though the Huntingtin (Htt) aggregates show close proximity to this organelle, or do some extracellular stimuli like TNFα or FasL trigger the process. Mainly because of the disparity in the different available experimental models, the results are quite confusing or at least inconsistent to a great extent. The fact remains that the mutant Htt protein was seen to be associated with mitochondria directly, and as the striatum is highly enriched with dopamine and glutamate, it may make the striatal mitochondria more vulnerable because of the presence of dopa-quinones, and due to an imbalance in Ca(2+). The current therapeutic strategies are based on symptomatic relief, and, therefore, mainly target neurotransmitter(s) and their receptors to modulate behavioral outputs, but none of them targets mitochondria or try to address the basic molecular events that cause neurons to die in discrete regions of the brain, which could probably be resulting from grave mitochondrial dysfunctions. Therefore, targeting mitochondria for their protection, while addressing symptomatic recovery, holds a great potential to tone down the progression of the disease, and to provide better relief to the patients and caretakers.

摘要

亨廷顿病(HD)是一种常染色体显性疾病,表现为明显的运动功能障碍。尽管过去几十年一直专注于 HD 神经退行性变的基础研究,但大脑神经元局灶性损伤的机制仍不清楚。所有部分阐明神经退行性变现象的解释都指向一个细胞器,即线粒体,它在 HD 中电子传递链、Ca2+缓冲效率和形态水平上受到严重影响。但是,根据现有知识,尚不清楚 HD 中的细胞死亡过程是否起源于线粒体,尽管亨廷顿蛋白(Htt)聚集体与该细胞器密切相关,或者一些细胞外刺激,如 TNFα 或 FasL 是否触发该过程。主要是因为不同的现有实验模型之间存在差异,结果相当混乱,或者至少在很大程度上不一致。事实仍然是,突变的 Htt 蛋白被直接观察到与线粒体相关,由于纹状体富含多巴胺和谷氨酸,由于存在多巴醌,以及由于 Ca2+失衡,纹状体线粒体可能更容易受到影响。目前的治疗策略基于症状缓解,因此主要针对神经递质及其受体来调节行为输出,但没有一种策略针对线粒体或试图解决导致神经元在大脑特定区域死亡的基本分子事件,这些事件可能是由于严重的线粒体功能障碍引起的。因此,针对线粒体进行保护,同时解决症状恢复问题,具有很大的潜力来减缓疾病的进展,并为患者和护理人员提供更好的缓解。

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