A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction

Karine Clément, Christian Vaisse, Najiba Lahlou, Sylvie Cabrol, Veronique Pelloux, Dominique Cassuto, Micheline Gourmelen, Christian Dina, Jean Chambaz, Jean-Marc Lacorte, Arnaud Basdevant, Pierre Bougnères, Yves Lebouc, Philippe Froguel () and Bernard Guy-Grand
Additional contact information
Karine Clément: Laboratoire de Nutrition et Service de Médecine et Nutrition
Christian Vaisse: Laboratoire de Nutrition et Service de Médecine et Nutrition
Najiba Lahlou: Inserm U342, Hôpital Saint Vincent de Paul et service d'Endocrinologie-Diabéte de l'Enfant
Sylvie Cabrol: Explorations fonctionnelles endocriniennes, Hôpital d'enfant Armand Trousseau
Veronique Pelloux: Laboratoire de Nutrition et Service de Médecine et Nutrition
Dominique Cassuto: Laboratoire de Nutrition et Service de Médecine et Nutrition
Micheline Gourmelen: Explorations fonctionnelles endocriniennes, Hôpital d'enfant Armand Trousseau
Christian Dina: Institut de Biologie-CNRS EP10, Institut Pasteur de Lille
Jean Chambaz: CJF INSERM 9508, 15 rue de l'Ecole de Médecine
Jean-Marc Lacorte: CJF INSERM 9508, 15 rue de l'Ecole de Médecine
Arnaud Basdevant: Laboratoire de Nutrition et Service de Médecine et Nutrition
Pierre Bougnères: CJF INSERM 9508, 15 rue de l'Ecole de Médecine
Yves Lebouc: Explorations fonctionnelles endocriniennes, Hôpital d'enfant Armand Trousseau
Philippe Froguel: Laboratoire de Nutrition et Service de Médecine et Nutrition
Bernard Guy-Grand: Laboratoire de Nutrition et Service de Médecine et Nutrition

Nature, 1998, vol. 392, issue 6674, 398-401

Abstract: Abstract The adipocyte-specific hormone leptin, the product of the obese (ob) gene,regulates adipose-tissue mass through hypothalamic effects on satiety and energy expenditure1,2,3,4. Leptin acts through the leptin receptor, a single-transmembrane-domain receptor of the cytokine-receptor family5,6,7. In rodents, homozygous mutations ingenes encoding leptin1 or the leptin receptor6 cause early-onsetmorbid obesity, hyperphagia and reduced energy expenditure. These rodents also show hypercortisolaemia, alterations in glucose homeostasis, dyslipidaemia, and infertility due to hypogonadotropic hypogonadism8. In humans, leptin deficiency due to a mutation in the leptin gene is associated with early-onset obesity9. Here we describe a homozygous mutation in the human leptin receptor gene that results in a truncated leptin receptor lacking both the transmembrane and the intracellular domains. In addition to their early-onset morbid obesity, patients homozygous for this mutation have no pubertal development and their secretion of growth hormone and thyrotropin is reduced. These results indicate that leptin is an important physiological regulator of several endocrine functions in humans.

Date: 1998
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DOI: 10.1038/32911

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