Orchestration of Genetic Alterations in PSEN1 and PSEN2 Genes in Development of Alzheimer's Disease through Computational Analysis.

IF 1.2 Q4 GENETICS & HEREDITY
Global Medical Genetics Pub Date : 2024-01-09 eCollection Date: 2024-01-01 DOI:10.1055/s-0043-1777849
Asif Mir, Zainab Kamran, Wajid Iqbal
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引用次数: 0

Abstract

Dementia is a syndrome that can cause a number of progressive illnesses that affect memory, thinking, and ability to perform everyday tasks. Alzheimer's disease (AD) is the most common cause of dementia and represents a major public health problem. AD is a progressive disease, where in early stages there is mild memory loss and in late-stage patient loses the ability to carry on a conversation. AD (for which there is no exact cause and cure known so far) is the sixth leading cause of deaths in the United States. Every 68 second someone develops AD. This study focuses on protein structure modeling of genes presenilin 1 and 2 ( PSEN1 and PSEN2 ) and their mutated forms (Asn141Tyr found in Chinese family, Gly34Ser identified in a Japanese patient, and Arg62Cys & Val214Leu identified in the Korean patients). It also involves wild and mutant type comparison, protein interaction studies, docking and phylogenetic history based on representative ortholog species and also sheds insight into the comparative evolutionary rates of coding sequence across various orthologs. This study gives a time and cost-effective analysis of genes ( PSEN1 and PSEN2 ) underlying AD and genetic alterations that drive development and causes of disease.

通过计算分析协调 PSEN1 和 PSEN2 基因在阿尔茨海默病发展过程中的遗传变异。
痴呆症是一种综合症,可引起一系列渐进性疾病,影响记忆、思维和完成日常任务的能力。阿尔茨海默病(AD)是导致痴呆症最常见的原因,也是一个重大的公共卫生问题。阿兹海默症是一种渐进性疾病,早期患者会有轻微的记忆力减退,晚期患者会丧失对话能力。注意力缺失症(迄今尚无确切病因和治疗方法)是美国第六大死亡原因。每 68 秒就有一人罹患注意力缺失症。这项研究的重点是建立预感素 1 和 2(PSEN1 和 PSEN2)基因及其突变形式(在中国家庭中发现的 Asn141Tyr、在日本患者中发现的 Gly34Ser 以及在韩国患者中发现的 Arg62Cys 和 Val214Leu)的蛋白质结构模型。该研究还涉及野生型和突变型比较、蛋白质相互作用研究、对接和基于代表性同源物物种的系统发育历史,还揭示了不同同源物编码序列的比较进化速度。这项研究以时间和成本效益为基础,分析了导致注意力缺失症的基因(PSEN1 和 PSEN2)以及驱动疾病发展和致病原因的基因改变。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Global Medical Genetics
Global Medical Genetics GENETICS & HEREDITY-
自引率
11.80%
发文量
30
审稿时长
14 weeks
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