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Article

Unexpected identification of obesity-associated mutations in LEP and MC4R genes in patients with anorexia nervosa.

Scientific reports - 25 Mar 2024

Rajcsanyi Luisa Sophie, Zheng Yiran, Herpertz-Dahlmann Beate, Seitz Jochen, de Zwaan Martina, Herzog Wolfgang, Ehrlich Stefan, Zipfel Stephan, Giel Katrin, Egberts Karin, Burghardt Roland, Föcker Manuel, Antel Jochen, Fischer-Posovszky Pamela, Hebebrand Johannes, Hinney Anke

Abstract excerpt

Mutations leading to a reduced or loss of function in genes of the leptin-melanocortin system confer a risk for monogenic forms of obesity. Yet, gain of function variants in the melanocortin-4-receptor (MC4R) gene predispose to a lower BMI. In individuals with reduced body weight, we thus expected mutations leading to an enhanced function in the respective genes, like leptin (LEP) and MC4R. Therefore, we have...

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Identifiers

PMID: 38528040
DOI: 10.1038/s41598-024-57517-w
PMCID: PMC10963783

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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