A role for beta-melanocyte-stimulating hormone in human body-weight regulation.
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.
Biebermann
Heike
H
Institute for Pediatric Endocrinology, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany.
Castañeda
Tamara R
TR
van Landeghem
Frank
F
von Deimling
Andreas
A
Escher
Frederike
F
Brabant
Georg
G
Hebebrand
Johannes
J
Hinney
Anke
A
Tschöp
Matthias H
MH
Grüters
Annette
A
Krude
Heiko
H
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*
D019824:beta-MSH