伊朗人群中枫糖尿病(MSUD)基因突变谱的全面硅学分析。

IF 1.5 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY Molecular Biology Research Communications Pub Date : 2024-01-01 DOI:10.22099/mbrc.2024.49847.1958
Nahid Rezaie, Saeedeh Sadat Ghazanfari, Teymoor Khosravi, Fatemeh Vaghefi, Morteza Oladnabi
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引用次数: 0

摘要

枫糖浆尿病(MSUD)是一种不常见的代谢性疾病,由支链α-酮酸脱氢酶不足引起。根据病情的严重程度,枫糖尿症可分为典型(重度)、中度和间歇性三种。该病与多个基因的突变有关,包括 BCKDHA、BCKDHB、DBT 和 DLD。本研究旨在调查伊朗患者 MSUD 的遗传情况,并探讨已识别基因变异的临床意义。研究人员利用各种分子技术和生物信息学工具进行了全面分析,以预测蛋白质的稳定性、致病性、氨基酸保存和二级/三级结构。硅学分析突出了高风险致病变体,并深入了解了它们对蛋白质结构和功能的潜在影响。此外,野生型和突变型蛋白质的预测三维结构阐明了结构上的差异。蛋白-蛋白相互作用分析揭示了涉及 MSUD 相关蛋白的相互作用网络。伊朗基因组数据库发现了波斯人群中一个潜在的致病变体(c.554C>T)。这项研究有助于更好地了解伊朗人群中的 MSUD 遗传学,并为进一步的临床研究勾勒出潜在的途径。研究结果对受影响家庭的基因检测、预后和遗传咨询具有重要意义。
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A comprehensive in silico analysis of mutation spectrum of maple syrup urine disease (MSUD) genes in Iranian population.

Maple syrup urine disease (MSUD) represents an infrequent metabolic disease precipitated by an insufficiency of the enzymatic complex known as branched-chain alpha-keto acid dehydrogenase. MSUD can be classified as classic (severe), intermediate, or intermittent based on the severity of the condition. The disease is associated with mutations in several genes, including BCKDHA, BCKDHB, DBT, and DLD. This study aimed to investigate the genetic landscape of MSUD in Iranian patients and explore the clinical implications of identified gene variants. A comprehensive analysis was conducted using various molecular techniques and bioinformatics tools to predict protein stability, pathogenicity, amino acid conservation, and secondary/tertiary structure. The in silico analysis highlighted high-risk pathogenic variants and provided insights into their potential impact on protein structure and function. Furthermore, the predicted 3D structures of wild-type and mutant proteins elucidated structural differences. Protein-protein interaction analysis shed light on the network of interactions involving MSUD-related proteins. The Iranome database uncovered a potential pathogenic variant (c.554C>T) in the Persian population. This research contributes to a better understanding of MSUD genetics in the Iranian population and outlines potential avenues for further clinical investigations. The findings have implications for genetic testing, prognosis, and genetic counseling in affected families.

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来源期刊
Molecular Biology Research Communications
Molecular Biology Research Communications BIOCHEMISTRY & MOLECULAR BIOLOGY-
CiteScore
3.00
自引率
0.00%
发文量
12
期刊介绍: “Molecular Biology Research Communications” (MBRC) is an international journal of Molecular Biology. It is published quarterly by Shiraz University (Iran). The MBRC is a fully peer-reviewed journal. The journal welcomes submission of Original articles, Short communications, Invited review articles, and Letters to the Editor which meets the general criteria of significance and scientific excellence in all fields of “Molecular Biology”.
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