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对人类QDPR基因有害误解突变的结构和功能后果的综合生物信息学分析

Aishwarya Girish¹, Samruddhi Sutar¹, T P Krishna Murthy¹

¹Department of Biotechnology, M S Ramaiah Institute of Technology, Bengaluru, India.

Journal of biomolecular structure & dynamics

|June 29, 2023

概括

昆诺因二二降解酶 (QDPR) 酶的遗传变异会影响神经递质合成和大脑健康. 计算工具发现了与神经系统疾病和潜在瘤性相关的有害突变.

科学领域:

生物化学生物化学
遗传学是一个遗传学.
计算生物学计算生物学

背景情况:

昆二二降解酶 (QDPR) 调节四生物 (BH4),对神经递质合成至关重要.
降低QDPR活性与BH4枯竭,氧化应激和帕金森病风险有关.

研究的目的:

研究QDPR基因变异,特别是误解SNP对酶活性和致病性的影响.
使用计算工具分析nsSNP的功能和生物后果.

主要方法:

在QDPR基因中确定了10236个SNP,重点关注217个错误的SNP.
采用了超过18个基于序列和结构的计算工具来评估SNP效应.
进行了保护分析,并使用HOPE服务器评估特定突变对蛋白质结构的影响.

主要成果:

确定了许多有害的nSSNP影响QDPR蛋白活性.
发现了与中枢神经系统疾病相关的10种有害突变,并预测它们是致癌的.
在蛋白质结构上对六个选定的突变 (L14P,V15G,G23S,V54G,M107K,G151S) 的详细分析.

结论:

在QDPR中nsSNPs可以显著影响酶功能,导致致病性和潜在的致癌性.
计算分析为QDPR遗传变异的功能后果提供了宝贵的见解.
需要进一步的临床研究来验证这些发现,并探索突变的流行率.

关键词:

昆诺因二二二二二二二二二二二二二二二二二二二二二二二二二二二二二二二二二二二二二二二二二二二二二二二二二二二有害的误解突变.功能分析是一种功能分析.分子动态模拟的分子动态模拟.结构分析是结构分析.

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