Melanocortin 4 receptor mutations become common

Peter Kühnen; Heike Biebermann; Heiko Krude

doi:10.1016/j.cmet.2021.07.003

Melanocortin 4 receptor mutations become common

Cell Metab. 2021 Aug 3;33(8):1512-1513. doi: 10.1016/j.cmet.2021.07.003.

Authors

Peter Kühnen¹, Heike Biebermann¹, Heiko Krude²

Affiliations

¹ Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin und Humboldt-Universität zu Berlin, Institute for Experimental Pediatric Endocrinology, Augustenburger Platz 1, 13353 Berlin, Germany.
² Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin und Humboldt-Universität zu Berlin, Institute for Experimental Pediatric Endocrinology, Augustenburger Platz 1, 13353 Berlin, Germany. Electronic address: heiko.krude@charite.de.

PMID: 34348096
DOI: 10.1016/j.cmet.2021.07.003

Abstract

In a new paper, Wade et al. (2021) analyzed the frequency of MC4R loss-of-function (LoF) mutations in a population-based Avon Longitudinal Study of Parents and Children. The frequency was 1 in 337 and the authors showed that MC4R LoF variants significantly correlated with increased body weight and fat mass in children and adults (cumulating in additional 17.76 kg weight in adulthood). Hence, the authors provide evidence that MC4R LoF variants are more common than previously expected.

Publication types

Research Support, Non-U.S. Gov't
Comment

MeSH terms

Adult
Child
Humans
Longitudinal Studies
Mutation / genetics
Obesity*
Receptor, Melanocortin, Type 4* / genetics
Weight Gain

Substances

Receptor, Melanocortin, Type 4