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Molecular Modelling and Dynamics Study of nsSNP in STXBP1 Gene in Early Infantile Epileptic Encephalopathy Disease
المؤلفون المشاركون
Rouba, Hassan
Benhnini, Fouad
Al Mehdi, Krami
Zouhair, Elkarhat
Boutaina, Belkady
Yassine, Naasse
Chaimaa, Ait El Cadi
Najat, Sifeddine
Rachida, Roky
Abdelhamid, Barakat
Halima, Nahili
المصدر
العدد
المجلد 2019، العدد 2019 (31 ديسمبر/كانون الأول 2019)، ص ص. 1-14، 14ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2019-12-31
دولة النشر
مصر
عدد الصفحات
14
التخصصات الرئيسية
الملخص EN
Early Infantile Epileptic Encephalopathy (known as Ohtahara Syndrome) is one of the most severe and earliest forms of epilepsy, characterized by early seizures onset.
It affects newborns and children between two and six years old.
Among the genes that have been associated with early infantile epileptic encephalopathy, the STXBP1 gene, which encodes the Syntaxin binding protein1a that is involved in SNARE complex formation, contributes to synaptic vesicles exocytosis.
The aim of this study was to identify the most pathogenic polymorphisms of STXBP1 gene and determine their impact on the structure and stability of Stxbp1 protein.
The high-risk nonsynonymous single nucleotide polymorphisms (nsSNPs) in the STXBP1 gene were predicted using 13 bioinformatics tools.
The conservation analysis was realized by CONSURF web server.
The analysis of the impact of the pathogenic SNPs on the structure of Stxbp1 protein was realized using YASARA software, and the molecular dynamics simulation was performed using GROMACS software.
Out of 245 nsSNPs, we identified 11 (S42P, H103D R190W, R235G, D238E, L256P, P335S, C354Y, L365V, R406C, and G544D) as deleterious using in silico prediction tools.
Conservation analysis results revealed that all these nsSNPs were located in conserved regions.
The comparison of the hydrogen and hydrophobic interactions in the wild type Stxbp1 structure and its mutant forms showed that all these nsSNPs affect the protein structure on different levels.
The molecular dynamics simulations revealed that the total of nsSNPs affect the protein stability, residual fluctuation, and the compaction at different levels.
This study provides helpful information on high risk nsSNPs that may affect the Stxbp1 protein structure and function.
Thus, these variants should be taken into consideration during the genetic screening of patients suffering from early infantile epileptic encephalopathy.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Al Mehdi, Krami& Benhnini, Fouad& Zouhair, Elkarhat& Boutaina, Belkady& Yassine, Naasse& Chaimaa, Ait El Cadi…[et al.]. 2019. Molecular Modelling and Dynamics Study of nsSNP in STXBP1 Gene in Early Infantile Epileptic Encephalopathy Disease. BioMed Research International،Vol. 2019, no. 2019, pp.1-14.
https://search.emarefa.net/detail/BIM-1125671
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Al Mehdi, Krami…[et al.]. Molecular Modelling and Dynamics Study of nsSNP in STXBP1 Gene in Early Infantile Epileptic Encephalopathy Disease. BioMed Research International No. 2019 (2019), pp.1-14.
https://search.emarefa.net/detail/BIM-1125671
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Al Mehdi, Krami& Benhnini, Fouad& Zouhair, Elkarhat& Boutaina, Belkady& Yassine, Naasse& Chaimaa, Ait El Cadi…[et al.]. Molecular Modelling and Dynamics Study of nsSNP in STXBP1 Gene in Early Infantile Epileptic Encephalopathy Disease. BioMed Research International. 2019. Vol. 2019, no. 2019, pp.1-14.
https://search.emarefa.net/detail/BIM-1125671
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1125671
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
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