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Melanocortin-4 receptor mutations are a frequent and heterogeneous cause of morbid obesity
Open accessAbstract
By integrating an agonist satiety signal, provided by alpha-melanocyte-stimulating hormone (alpha-MSH), and an antagonist signal, provided by agouti-related protein (AGRP), the melanocortin-4 receptor (MC4-R) is a key element in the hypothalamic control of food intake. Inactivation of the gene encoding this G protein-coupled receptor causes obesity in mice. In humans, frameshift mutations in MC4-R cause an early-onset dominant form of obesity in two families. In this study we find a high frequency (4%) of rare heterozygous MC4-R mutations in a large population of morbidly obese patients. No such mutations were found in controls. By analyzing the phenotypes of the probands carrying these mutations, we demonstrate that these patients display a common, nonsyndromic form of obesity. Interestingly, functional analysis of the mutant receptors indicates that obesity-associated defects in MC4-R range from loss of function to constitutive activation. Transmission of these mutations in the families of the carriers indicates a variable expressivity that is not related to the functional severity of the mutations. This variable expressivity of MC4-R-associated obesity is not due to variations in genes for alpha-MSH or AGRP. Taken together, these results demonstrate that MC4-R mutations are a frequent but heterogeneous genetic cause of morbid obesity.
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“Disruption of POMC-MC4R signalling causes hyperphagia and is the most common known genetic cause of morbid obesity in children193,194.”
From Obesity, kidney dysfunction and hypertension: mechanistic links (2019) · cites this paper as [194]
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Metadata
- Authors
- Vaisse, C., Clement, K., Durand, E., Hercberg, S., Guy-Grand, B., & Froguel, P.
- Affiliations
- Centre National de la Recherche Scientifique (FR)
- Hôtel-Dieu de Paris (FR)
- University of California, San Francisco (US)
- Corresponding author
- Vaisse, Christian
- Venue
- Journal of Clinical Investigation
- Published
- 2000-07-15
- Volume
- 106
- Issue
- 2
- Pages
- 253-262
- ISSN
- 0021-9738 (ISSN-L)
- PMC
- PMC314306
- OpenAlex
- W2118192748
- Cited by
- 897
- References
- 40
- Citations by year
- 2026: 11 · 2025: 17 · 2024: 21 · 2023: 26 · 2022: 18 · 2021: 32 · 2020: 27 · 2019: 28 · 2018: 27 · 2017: 22 · 2016: 26 · 2015: 34 · 2014: 36 · 2013: 22 · 2012: 28
- FWCI
- 20.59
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Journal of Clinical Investigation (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Danone
- Instituto Danone
- Servier
- Topics
- Life Sciences › Neuroscience › Endocrine and Autonomic Systems › Regulation of Appetite and Obesity
- Health Sciences › Medicine › Reproductive Medicine › Hypothalamic control of reproductive hormones
- Social Sciences › Psychology › Clinical Psychology › Eating Disorders and Behaviors
- Keywords
- melanocortin-4 receptor, MC4R mutations, morbid obesity, agouti-related protein, alpha-melanocyte-stimulating hormone, G protein-coupled receptors, loss of function, constitutive receptor activation, variable expressivity, genetic heterogeneity
- MeSH terms
- Adolescent, Adult, Aged, Aged, 80 and over, alpha-MSH, Child, Eating, Female, Genetic Testing, Heterozygote, Humans, Male, Middle Aged, Mutation, Obesity, Morbid, Pedigree, Proteins, Cohort Studies, Frameshift Mutation, Receptors, Corticotropin, Penetrance, Mutation, Missense, Intercellular Signaling Peptides and Proteins, Receptor, Melanocortin, Type 4, Agouti-Related Protein
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