Gopalakrishnan Chandrasekhar, Jethi Shraddha, Kalsi Namrata, Purohit Rituraj
Computational Biology Lab, Department of Biotechnology, School of Bio Sciences and Technology, VIT University, Vellore, 632014, Tamil Nadu, India.
Division of Biotechnology, CSIR-Institute of Himalayan Bioresource Technology, Palampur, Himachal Pradesh, India.
Cell Biochem Biophys. 2016 Jun;74(2):129-39. doi: 10.1007/s12013-016-0728-7. Epub 2016 Apr 19.
Huntington's disease (HD) is a neurodegenerative disorder that is caused by an abnormal elongation of the polyglutamine (polyQ) chain in the Huntington (Htt) protein. At present, the normal function of Htt of neurons as well as the mechanism by which selective neurodegeneration is caused by the expanded polyQ chain in Htt remains ambiguous. A gain of function as a result of the elongated polyQ chain can lead to abnormal interaction of the Htt protein with its interacting partners, thereby resulting in the neuropathological changes seen in the Huntington's disease. Recent research indicates protein kinase C and casein kinase substrate in neurons protein 1 (PACSIN1) as one of the interacting partners of Htt protein. It has proven experimentally that the mutant Htt and PACSIN1 formed aggregates in the cytoplasm. This aggregation is believed to be a cause for Huntington's disease. In our study, we performed in silico investigations to predict the biomolecular mechanism of Htt/PACSIN1 interaction that could be one of the major triggers of the disease. Biomolecular interaction and molecular dynamics simulation analysis were performed to understand the dynamic behavior of native and mutant structures at the atomic level. Mutant Htt showed more interaction with its biological partner than the native Htt due to its expansion of interaction surface and flexible nature of binding residues. Our investigation of native and mutant Htt clearly shows that the structural and functional consequences of the polyQ elongation cause HD. Because of the central role of the Htt-PACSIN1 complex in maintaining connections between neurons, these differences likely contribute to the mechanism responsible for HD progression.
亨廷顿舞蹈症(HD)是一种神经退行性疾病,由亨廷顿蛋白(Htt)中多聚谷氨酰胺(polyQ)链异常延长所致。目前,神经元中Htt的正常功能以及Htt中扩展的polyQ链导致选择性神经变性的机制仍不明确。polyQ链延长导致的功能获得可使Htt蛋白与其相互作用伙伴发生异常相互作用,从而导致亨廷顿舞蹈症中出现的神经病理变化。最近的研究表明,蛋白激酶C和神经元中的酪蛋白激酶底物蛋白1(PACSIN1)是Htt蛋白的相互作用伙伴之一。实验证明,突变型Htt和PACSIN1在细胞质中形成聚集体。这种聚集被认为是亨廷顿舞蹈症的一个病因。在我们的研究中,我们进行了计算机模拟研究,以预测Htt/PACSIN1相互作用的生物分子机制,这可能是该疾病的主要触发因素之一。进行了生物分子相互作用和分子动力学模拟分析,以了解天然和突变结构在原子水平上的动态行为。由于其相互作用表面的扩展和结合残基的柔性,突变型Htt与其生物伙伴的相互作用比天然Htt更多。我们对天然和突变型Htt的研究清楚地表明,polyQ延长的结构和功能后果会导致HD。由于Htt-PACSIN1复合物在维持神经元之间连接方面的核心作用,这些差异可能有助于HD进展的机制。