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Proteomic Analysis of Huntington’s Disease
Current Protein & Peptide Science ( IF 2.8 ) Pub Date : 2020-11-30 , DOI: 10.2174/1389203721666201006160327
Shobhit Kumar 1 , Priyanka Singh 1 , Shrestha Sharma 2 , Javed Ali 3 , Sanjula Baboota 3 , Faheem Hyder Pottoo 4
Affiliation  

Huntington’s disease (HD) is a neurodegenerative disease that is genetically inherited through an autosomal dominant gene located on chromosome 4. HD is caused by DNA mutation (generally 37 or more repetition of CAG nucleotides) that leads to an excessive stretch of glutamine residues. However, the main pathogenesis pathway resulted by polyglutamine expansion in mutant HD is unknown. The characteristics of this disease mostly appear in adults. Patients who suffer from this disease have shown an inability to control physical movements, emotional problems, speech disturbance, dementia, loss of thinking ability and death occurs between 15-20 years from the time of symptomatic onset. This review article suggested that investigation of mutation in the HD gene can be done by proteomic analysis such as mass spectroscopy, gel electrophoresis, western blotting, chromatographic based technology, and X-ray crystallography. The primary aim of proteomics is to focus on the molecular changes occurring in HD, there by enhancing the effectiveness of treatment.



中文翻译:

亨廷顿氏病的蛋白质组学分析

亨廷顿舞蹈病(HD)是一种神经退行性疾病,通过位于4号染色体上的常染色体显性基因遗传遗传。HD是由DNA突变(通常是37个或更多的CAG核苷酸重复)引起的,导致谷氨酰胺残基过度延伸。然而,由突变谷氨酸中的聚谷氨酰胺扩展导致的主要发病机理尚不清楚。这种疾病的特征主要出现在成年人中。患有这种疾病的患者已表现出无法控制身体运动,情绪问题,语言障碍,痴呆,思维能力丧失和自症状发作之日起的15至20年内死亡。这篇评论文章建议可以通过蛋白质组学分析(例如质谱,凝胶电泳,蛋白质印迹,基于色谱的技术和X射线晶体学。蛋白质组学的主要目的是通过增强治疗效果来关注HD中发生的分子变化。

更新日期:2020-12-31
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