Imane Douiyeh; Jihane Khamlich; Asmae Saih; Asmae Baggar; Anass Kettani; Amal Safi

doi:10.14715/cmb/2023.69.10.5

Issue

Vol. 69 No. 10: Issue 10

Issue Published : October 31, 2023

This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

The undersigned hereby assign all rights, included but not limited to copyright, for this manuscript to CMB Association upon its submission for consideration to publication on Cellular and Molecular Biology. The rights assigned include, but are not limited to, the sole and exclusive rights to license, sell, subsequently assign, derive, distribute, display and reproduce this manuscript, in whole or in part, in any format, electronic or otherwise, including those in existence at the time this agreement was signed. The authors hereby warrant that they have not granted or assigned, and shall not grant or assign, the aforementioned rights to any other person, firm, organization, or other entity. All rights are automatically restored to authors if this manuscript is not accepted for publication.

Computational analysis of missense variants of human MC4R and childhood obesity

Missense variants of human MC4R and childhood obesity

https://doi.org/10.14715/cmb/2023.69.10.5

Imane Douiyeh

Laboratory Biochemistry Environment and Agri-food, Department of Biology, Faculty of Science and Technics Mohammedia, Hassan II University Casablanca, Morocco

Jihane Khamlich

Laboratory Biochemistry Environment and Agri-food, Department of Biology, Faculty of Science and Technics Mohammedia, Hassan II University Casablanca, Morocco

Asmae Saih

Laboratory of Biology and Health, URAC 34, Faculty of Sciences Ben M’Sik Hassan II University of Casablanca, Morocco

Asmae Baggar

Laboratory Biochemistry Environment and Agri-food, Department of Biology, Faculty of Science and Technics Mohammedia, Hassan II University Casablanca, Morocco

Anass Kettani

Laboratory of Biology and Health, URAC 34, Faculty of Sciences Ben M’Sik Hassan II University of Casablanca, Morocco

Amal Safi

Laboratory Biochemistry Environment and Agri-food, Department of Biology, Faculty of Science and Technics Mohammedia, Hassan II University Casablanca, Morocco

Corresponding Author(s) : Imane Douiyeh

imane.douiyeh-etu@etu.univh2c.ma

Cellular and Molecular Biology, Vol. 69 No. 10: Issue 10
Article Published : October 31, 2023

Abstract

Industrialized and developing nations face severe public health problems related to childhood obesity. Previous studies revealed that the melanocortin-4 receptor gene (MC4R) is the most prevalent monogenic cause of severe early obesity. Due to its influence on food intake and energy expenditure via neuronal melanocortin-4 receptor pathways, MC4R is recognized as a regulator of energy homeostasis. This study used a variety of computational systems to analyze 273 missense variations of MC4R in silico. Several tools, including PolyPhen, PROVEAN, SIFT, SNAP2, MutPred2, PROVEAN, SNP&GO and Mu-Pro, I-Mutant, PhD-SNP, SAAFEC-SEQ I-Mutant, and ConSurf, were used to make predictions of 13 extremely confident nsSNPs that are harmful and disease-causing (E308k, P299L, D298H, C271F, C271R, P260L, T246N, G243R, C196Y, W174C, Y157S, D126Y, and D90G). The results of our study suggest that these MC4R nsSNPs may disrupt normal protein function, leading to an increased risk of childhood obesity. These results highlight the potential use of these nsSNPs as biomarkers to predict susceptibility to obesity and as targets for personalized interventions.

Keywords

Mc4r childhood obesity snp prediction pathogenicity

Douiyeh, I., Khamlich, J., Saih, A., Baggar, A., Kettani, A., & Safi, A. (2023). Computational analysis of missense variants of human MC4R and childhood obesity: Missense variants of human MC4R and childhood obesity . Cellular and Molecular Biology, 69(10), 30–42. https://doi.org/10.14715/cmb/2023.69.10.5

Download Citation

Author Biographies

Jihane Khamlich, Laboratory Biochemistry Environment and Agri-food, Department of Biology, Faculty of Science and Technics Mohammedia, Hassan II University Casablanca, Morocco

Asmae Saih, Laboratory of Biology and Health, URAC 34, Faculty of Sciences Ben M’Sik Hassan II University of Casablanca, Morocco

Asmae Baggar, Laboratory Biochemistry Environment and Agri-food, Department of Biology, Faculty of Science and Technics Mohammedia, Hassan II University Casablanca, Morocco

Anass Kettani, Laboratory of Biology and Health, URAC 34, Faculty of Sciences Ben M’Sik Hassan II University of Casablanca, Morocco

Amal Safi, Laboratory Biochemistry Environment and Agri-food, Department of Biology, Faculty of Science and Technics Mohammedia, Hassan II University Casablanca, Morocco