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Rezaie, Nahid, Ghazanfari, Saeedeh Sadat, Khosravi, Teymoor, Vaghefi, Fatemeh, Oladnabi, Morteza. (1403). A comprehensive in silico analysis of mutation spectrum of maple syrup urine disease (MSUD) genes in Iranian population. , 13(4), 235-246. doi: 10.22099/mbrc.2024.49847.1958
Nahid Rezaie; Saeedeh Sadat Ghazanfari; Teymoor Khosravi; Fatemeh Vaghefi; Morteza Oladnabi. "A comprehensive in silico analysis of mutation spectrum of maple syrup urine disease (MSUD) genes in Iranian population". , 13, 4, 1403, 235-246. doi: 10.22099/mbrc.2024.49847.1958
Rezaie, Nahid, Ghazanfari, Saeedeh Sadat, Khosravi, Teymoor, Vaghefi, Fatemeh, Oladnabi, Morteza. (1403). 'A comprehensive in silico analysis of mutation spectrum of maple syrup urine disease (MSUD) genes in Iranian population', , 13(4), pp. 235-246. doi: 10.22099/mbrc.2024.49847.1958
Rezaie, Nahid, Ghazanfari, Saeedeh Sadat, Khosravi, Teymoor, Vaghefi, Fatemeh, Oladnabi, Morteza. A comprehensive in silico analysis of mutation spectrum of maple syrup urine disease (MSUD) genes in Iranian population. , 1403; 13(4): 235-246. doi: 10.22099/mbrc.2024.49847.1958

A comprehensive in silico analysis of mutation spectrum of maple syrup urine disease (MSUD) genes in Iranian population

Molecular Biology Research Communications
دوره 13، شماره 4، 2024، صفحه 235-246    اصل مقاله (657.88 K)
نوع مقاله: Original article
شناسه دیجیتال (DOI): 10.22099/mbrc.2024.49847.1958
نویسندگان
Nahid Rezaie1؛ Saeedeh Sadat Ghazanfari2؛ Teymoor Khosravi1؛ Fatemeh Vaghefi1؛ Morteza Oladnabi* 3
1Student Research Committee, Golestan University of Medical Sciences, Gorgan, Iran
2Mashhad University of Medical Sciences, Mashhad Branch, Islamic Azad University, Mashhad, Iran
3Gorgan Congenital Malformations Research Center, Golestan University of Medical Sciences, Gorgan, Iran
چکیده
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.
کلیدواژه‌ها
In silico analysis؛ Maple syrup urine disease؛ Mutations؛ Pathogenicity
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مراجع
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