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ISSN Печать: 1045-4403
ISSN Онлайн: 2162-6502
Indexed in
Monogenic and Complex Forms of Obesity: Insights from Genetics Reveal the Leptin-Melanocortin Signaling Pathway as a Common Player
Краткое описание
The role of genetic factors involved in the etiology of human obesity is beyond question. The identification of the hypothalamic leptin-melanocortin signaling pathway as a critical regulator in energy homeostasis and food intake has been essential for genetic research. In this review, we discuss the involvement of established and novel genes from this pathway in the pathogenesis of obesity. Their roles in monogenic and complex forms of obesity are illustrated by discussing the results of mutation analysis, candidate gene and genome-wide association studies, as well as copy number analysis. While we can conclude from these outcomes that the leptin-melanocortin pathway is of immense importance, there is still a lot of heritability that currently cannot be explained. Future studies implementing genome-wide association studies, genome-wide copy number variant analysis, and whole exome and whole-genome sequencing might aid in finding new variation in the conventional pathways and might reveal new biological pathways implicated in the pathogenesis of obesity.
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Saeed Sadia, Bonnefond Amélie, Manzoor Jaida, Shabir Faiza, Ayesha Hina, Philippe Julien, Durand Emmanuelle, Crouch Hutokshi, Sand Olivier, Ali Muhammad, Butt Taeed, Rathore Ahsan W., Falchi Mario, Arslan Muhammad, Froguel Philippe, Genetic variants in LEP , LEPR , and MC4R explain 30% of severe obesity in children from a consanguineous population, Obesity, 23, 8, 2015. Crossref
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Shukla C., Koch L.G., Britton S.L., Cai M., Hruby V.J., Bednarek M., Novak C.M., Contribution of regional brain melanocortin receptor subtypes to elevated activity energy expenditure in lean, active rats, Neuroscience, 310, 2015. Crossref
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Genetics of Childhood Obesity, in Childhood Obesity, 2016. Crossref
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Geets Ellen, Zegers Doreen, Beckers Sigri, Verrijken An, Massa Guy, Van Hoorenbeeck Kim, Verhulst Stijn, Van Gaal Luc, Van Hul Wim, Copy number variation (CNV) analysis and mutation analysis of the 6q14.1–6q16.3 genes SIM1 and MRAP2 in Prader Willi like patients, Molecular Genetics and Metabolism, 117, 3, 2016. Crossref
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Roth Christian, Hypothalamic Obesity in Craniopharyngioma Patients: Disturbed Energy Homeostasis Related to Extent of Hypothalamic Damage and Its Implication for Obesity Intervention, Journal of Clinical Medicine, 4, 9, 2015. Crossref
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Almundarij Tariq I, Gavini Chaitanya K., Novak Colleen M, Suppressed sympathetic outflow to skeletal muscle, muscle thermogenesis, and activity energy expenditure with calorie restriction, Physiological Reports, 5, 4, 2017. Crossref
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Emiliano Ana B., Melanocortin 4 Receptor (MC4R) Deficiency, in Obesity Management, 2019. Crossref
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Geets E., Meuwissen M.E.C., Van Hul W., Clinical, molecular genetics and therapeutic aspects of syndromic obesity, Clinical Genetics, 95, 1, 2019. Crossref
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Elfers Clinton T., Roth Christian L., Robust Reductions of Excess Weight and Hyperphagia by Beloranib in Rat Models of Genetic and Hypothalamic Obesity, Endocrinology, 158, 1, 2017. Crossref
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Diels Sara, Vanden Berghe Wim, Van Hul Wim, Insights into the multifactorial causation of obesity by integrated genetic and epigenetic analysis, Obesity Reviews, 21, 7, 2020. Crossref
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Diels Sara, Huybreghts Sander, Van Hoorenbeeck Kim, Massa Guy, Verrijken An, Verhulst Stijn L., Van Gaal Luc F., Van Hul Wim, Copy number variant analysis and expression profiling of the olfactory receptor-rich 11q11 region in obesity predisposition, Molecular Genetics and Metabolism Reports, 25, 2020. Crossref
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Abuzzahab M. Jennifer, Roth Christian L., Shoemaker Ashley H., Hypothalamic Obesity: Prologue and Promise, Hormone Research in Paediatrics, 91, 2, 2019. Crossref
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Almundarij Tariq I., Smyers Mark E., Spriggs Addison, Heemstra Lydia A., Beltz Lisa, Dyne Eric, Ridenour Caitlyn, Novak Colleen M., Physical Activity, Energy Expenditure, and Defense of Body Weight in Melanocortin 4 Receptor-Deficient Male Rats, Scientific Reports, 6, 1, 2016. Crossref
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Shoemaker Ashley H., Silver Heidi J., Buchowski Maciej, Slaughter James C., Yanovski Jack A., Elfers Clinton, Roth Christian L., Abuzzahab M. Jennifer, Energy balance in hypothalamic obesity in response to treatment with a once-weekly GLP-1 receptor agonist, International Journal of Obesity, 46, 3, 2022. Crossref
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Koroglu Cigdem, Baier Leslie J., Body Weights and Mass and Links with Nighttime Eating, in Eating Disorders, 2022. Crossref