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Volume 14
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10.3390/jpm14040425
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Article

Computational Analysis of Deleterious nsSNPs in INS Gene Associated with Permanent Neonatal Diabetes Mellitus

by
Elsadig Mohamed Ahmed
*,
Mohamed E. Elangeeb
,
Khalid Mohamed Adam
,
Hytham Ahmed Abuagla
,
Abubakr Ali Elamin MohamedAhmed
,
Elshazali Widaa Ali
,
Elmoiz Idris Eltieb
,
Ali M. Edris
,
Hiba Mahgoub Ali Osman
,
Ebtehal Saleh Idris
and
Khalil A. A. Khalil
Department of Medical Laboratory Sciences, College of Applied Medical Sciences, University of Bisha, P.O. Box 551, Bisha 61922, Saudi Arabia
*
Author to whom correspondence should be addressed.
J. Pers. Med. 2024, 14(4), 425; https://doi.org/10.3390/jpm14040425
Submission received: 20 March 2024 / Revised: 6 April 2024 / Accepted: 10 April 2024 / Published: 17 April 2024
(This article belongs to the Section Omics/Informatics)
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Abstract

Insulin gene mutations affect the structure of insulin and are considered a leading cause of neonatal diabetes and permanent neonatal diabetes mellitus PNDM. These mutations can affect the production and secretion of insulin, resulting in inadequate insulin levels and subsequent hyperglycemia. Early discovery or prediction of PNDM can aid in better management and treatment. The current study identified potential deleterious non-synonymous single nucleotide polymorphisms nsSNPs in the INS gene. The analysis of the nsSNPs in the INS gene was conducted using bioinformatics tools by implementing computational algorithms including SIFT, PolyPhen2, SNAP2, SNPs & GO, PhD-SNP, MutPred2, I-Mutant, MuPro, and HOPE tools to investigate the prediction of the potential association between nsSNPs in the INS gene and PNDM. Three mutations, C96Y, P52R, and C96R, were shown to potentially reduce the stability and function of the INS protein. These mutants were subjected to MDSs for structural analysis. Results suggested that these three potential pathogenic mutations may affect the stability and functionality of the insulin protein encoded by the INS gene. Therefore, these changes may influence the development of PNDM. Further researches are required to fully understand the various effects of mutations in the INS gene on insulin synthesis and function. These data can aid in genetic testing for PNDM to evaluate its risk and create treatment and prevention strategies in personalized medicine.
Keywords: non-synonymous single nucleotide polymorphisms; insulin genes; permanent neonatal diabetes mellitus; genetic variations; computational methods; personalized medicine non-synonymous single nucleotide polymorphisms; insulin genes; permanent neonatal diabetes mellitus; genetic variations; computational methods; personalized medicine

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MDPI and ACS Style

Ahmed, E.M.; Elangeeb, M.E.; Adam, K.M.; Abuagla, H.A.; MohamedAhmed, A.A.E.; Ali, E.W.; Eltieb, E.I.; Edris, A.M.; Ali Osman, H.M.; Idris, E.S.; et al. Computational Analysis of Deleterious nsSNPs in INS Gene Associated with Permanent Neonatal Diabetes Mellitus. J. Pers. Med. 2024, 14, 425. https://doi.org/10.3390/jpm14040425

AMA Style

Ahmed EM, Elangeeb ME, Adam KM, Abuagla HA, MohamedAhmed AAE, Ali EW, Eltieb EI, Edris AM, Ali Osman HM, Idris ES, et al. Computational Analysis of Deleterious nsSNPs in INS Gene Associated with Permanent Neonatal Diabetes Mellitus. Journal of Personalized Medicine. 2024; 14(4):425. https://doi.org/10.3390/jpm14040425

Chicago/Turabian Style

Ahmed, Elsadig Mohamed, Mohamed E. Elangeeb, Khalid Mohamed Adam, Hytham Ahmed Abuagla, Abubakr Ali Elamin MohamedAhmed, Elshazali Widaa Ali, Elmoiz Idris Eltieb, Ali M. Edris, Hiba Mahgoub Ali Osman, Ebtehal Saleh Idris, and et al. 2024. "Computational Analysis of Deleterious nsSNPs in INS Gene Associated with Permanent Neonatal Diabetes Mellitus" Journal of Personalized Medicine 14, no. 4: 425. https://doi.org/10.3390/jpm14040425

APA Style

Ahmed, E. M., Elangeeb, M. E., Adam, K. M., Abuagla, H. A., MohamedAhmed, A. A. E., Ali, E. W., Eltieb, E. I., Edris, A. M., Ali Osman, H. M., Idris, E. S., & Khalil, K. A. A. (2024). Computational Analysis of Deleterious nsSNPs in INS Gene Associated with Permanent Neonatal Diabetes Mellitus. Journal of Personalized Medicine, 14(4), 425. https://doi.org/10.3390/jpm14040425

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