Nonsynonymous variations of ion channel-related genes as risk factors in epilepsy

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dc.authorscopusid57211412873
dc.authorscopusid57219390008
dc.contributor.authorBiterge Süt, Burcu
dc.contributor.authorSoytürk, Hayriye
dc.date.accessioned2024-09-25T19:44:12Z
dc.date.available2024-09-25T19:44:12Z
dc.date.issued2021
dc.departmentAbant İzzet Baysal Üniversitesien_US
dc.description.abstractRecurrent seizures are characteristic to epilepsy, which often arise due to increased electrical activity. Ligand-gated ion channels are considered as key factors in epilepsy as they regulate and maintain neuronal membrane potential via regulating ion transportation. Therefore, this study aims to identify ion channel-related single nucleotide variations that are considered as risk factors in epilepsy and determine their potential effects on pathogenicity, protein stability and structure using in silico methods. For this purpose, ion channel-related mutations linked with epilepsy were retrieved from ClinVar. Pathogenicity scores and protein stability were predicted using FATHMM-XF and MUpro, respectively. Structural alterations were determined via HOPE server. We identified 17 epilepsy-related missense mutations, 11 of which were in ion channel-related genes. Nonsynonymous substitutions of p.E177A, p.D219N, p.A322D, p.R577Q, p.E282K, p.V831M and p.R1072C were determined as pathogenic, while all mutations resulted in varying degrees of decrease in overall protein stability. Furthermore, all variants were annotated with risk for disease and introduction of distinct side chains caused differences in size, charge and hydrophobicity, as well as contact with other proteins and ligands. In conclusion, mutations in ion channel-related genes were previously identified in several genetic association studies while their functional annotations were not addressed. The results of this study provide a functional explanation to the pathogenic effects of ion channel-related gene mutations that are considered as risk factors in epilepsy. © 2021 Ondokuz Mayis Universitesi. All rights reserved.en_US
dc.identifier.doi10.52142/omujecm.38.3.15
dc.identifier.endpage293en_US
dc.identifier.issn1309-4483
dc.identifier.issue3en_US
dc.identifier.scopus2-s2.0-85105338473en_US
dc.identifier.scopusqualityQ4en_US
dc.identifier.startpage288en_US
dc.identifier.urihttps://doi.org/10.52142/omujecm.38.3.15
dc.identifier.urihttps://hdl.handle.net/20.500.12491/12718
dc.identifier.volume38en_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.publisherOndokuz Mayis Universitesien_US
dc.relation.ispartofJournal of Experimental and Clinical Medicine (Turkey)en_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.snmzYK_20240925en_US
dc.subjectEpilepsyen_US
dc.subjectIon channelsen_US
dc.subjectMissense mutationen_US
dc.subjectRisk factoren_US
dc.titleNonsynonymous variations of ion channel-related genes as risk factors in epilepsyen_US
dc.typeArticleen_US

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