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Obesity-related mutations of leptin and melanocortin receptors

  • Conference paper
Insights into Receptor Function and New Drug Development Targets

Part of the book series: Research and Perspectives in Endocrine Interactions ((RPEI))

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Summary

Inrecent years, the molecular approach to human obesity has advanced the understanding of some causes and mechanisms of severe forms of obesity. Single rare mutations largely contribute to the development of some obesity cases. Research was conducted after a meticulous clinical evaluation of individuals with specific biochemical or hormonal anomalies. These obesity cases are very severe and generally start in childhood. This chapter will focus on genetic mutations causing primary defects in the leptin and melanocortin pathways. Although obesity due to mutations of leptin, leptin receptor, proopiomelanocortin, and proconvertase 1 are exceptional, obesity linked to MC4R mutations could represent 2 to 4% of human cases. The phenotypic and endocrine features of these mutations causing a dysfunction in leptin and melanocortin signaling will be reviewed. The contribution of genetic variations of genes encoding the key actors of the leptin andmelanocortin pathways in common forms of obesity will also be discussed.

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Authors and Affiliations

  1. Inserm Nutriomique U755, 75004, Paris, France

    Cécile Lubrano, Béatrice Dubern & Karine Clément

  2. IFR58, Université Pierre et Marie Curie — Paris 6, 75004, Paris, France

    Cécile Lubrano, Béatrice Dubern & Karine Clément

  3. service de Nutrition, Hôtel-Dieu, CHRU Pitié Salpétrière, 75004, Paris, France

    Cécile Lubrano, Béatrice Dubern & Karine Clément

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  1. Cécile Lubrano
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  2. Béatrice Dubern
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  3. Karine Clément
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  1. Divisions of Neuroscience and Reproductive Biology, Departments of Physiology and Pharmacology and Cell and Developmental Biology, Oregon National Primate Research Center, Oregon Health and Science University, 505 NW 185th Avenue, Beaverton, Oregon, 97006, USA

    Michael Conn Ph.D.

  2. Institut Necker, 156, rue de Vaugirard, 75015, Paris, France

    Claude Kordon Ph.D.

  3. Pour la Recherche Thérapeutique, Fondation IPSEN, 24, rue Erlanger, 75781, Paris Cedex 16, France

    Yves Christen Ph.D.

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Lubrano, C., Dubern, B., Clément, K. (2006). Obesity-related mutations of leptin and melanocortin receptors. In: Conn, M., Kordon, C., Christen, Y. (eds) Insights into Receptor Function and New Drug Development Targets. Research and Perspectives in Endocrine Interactions. Springer, Berlin, Heidelberg . https://doi.org/10.1007/3-540-34447-0_3

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