title: A role for beta-melanocyte-stimulating hormone in human body-weight regulation.
abstract: Pro-opiomelanocortin (POMC) expressing neurons mediate the regulation of orexigenic drive by peripheral hormones such as leptin, cholecystokinin, ghrelin, and insulin. Most research effort has focused on alpha-melanocyte-stimulating hormone (alpha-MSH) as the predominant POMC-derived neuropeptide in the central regulation of human energy balance and body weight. Here we report a missense mutation within the coding region of the POMC-derived peptide beta-MSH (Y5C-beta-MSH) and its association with early-onset human obesity. In vitro and in vivo data as well as postmortem human brain studies indicate that the POMC-derived neuropeptide beta-MSH plays a critical role in the hypothalamic control of body weight in humans.
authors.affiliation: Institute for Pediatric Endocrinology, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany.
authors.forename: Heike
authors.initials: H
authors.lastname: Biebermann
authors.forename: Tamara R
authors.initials: TR
authors.lastname: Castañeda
authors.forename: Frank
authors.initials: F
authors.lastname: van Landeghem
authors.forename: Andreas
authors.initials: A
authors.lastname: von Deimling
authors.forename: Frederike
authors.initials: F
authors.lastname: Escher
authors.forename: Georg
authors.initials: G
authors.lastname: Brabant
authors.forename: Johannes
authors.initials: J
authors.lastname: Hebebrand
authors.forename: Anke
authors.initials: A
authors.lastname: Hinney
authors.forename: Matthias H
authors.initials: MH
authors.lastname: Tschöp
authors.forename: Annette
authors.initials: A
authors.lastname: Grüters
authors.forename: Heiko
authors.initials: H
authors.lastname: Krude
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D001835:Body Weight / Q000235:genetics / Q000502:physiology*; D004734:Energy Metabolism / Q000235:genetics / Q000502:physiology*; D005820:Genetic Testing; D006706:Homeostasis / Q000235:genetics / Q000502:physiology*; D006801:Humans; D007031:Hypothalamus / Q000378:metabolism; D007150:Immunohistochemistry; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics*; D009765:Obesity / Q000235:genetics*; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA; D019824:beta-MSH / Q000235:genetics*
chemical_list: D019824:beta-MSH