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Molecular Biology Research Communications، جلد ۱۳، شماره ۴، صفحات ۲۳۵-۲۴۶
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عنوان انگلیسی A comprehensive in silico analysis of mutation spectrum of maple syrup urine disease (MSUD) genes in Iranian population
چکیده انگلیسی مقاله 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.
کلیدواژه‌های انگلیسی مقاله In silico analysis, Maple syrup urine disease, mutations, pathogenicity
نویسندگان مقاله Nahid Rezaie |
Student Research Committee, Golestan University of Medical Sciences, Gorgan, Iran

Saeedeh Sadat Ghazanfari |
Mashhad University of Medical Sciences, Mashhad Branch, Islamic Azad University, Mashhad, Iran

Teymoor Khosravi |
Student Research Committee, Golestan University of Medical Sciences, Gorgan, Iran

Fatemeh Vaghefi |
Student Research Committee, Golestan University of Medical Sciences, Gorgan, Iran

Morteza Oladnabi |
Gorgan Congenital Malformations Research Center, Golestan University of Medical Sciences, Gorgan, Iran

نشانی اینترنتی https://mbrc.shirazu.ac.ir/article_7558_5ddc49284613590ab32af9dc01afff32.pdf
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