title: [Obesity based on mutation of genes involved in energy balance].
abstract: Within the last decade an intensive research led to an identification of several genes which are involved in a regulation of energy balance. In most cases, carriers of these gene mutations do not exhibit further characteristic phenotypic features except for a severe obesity. Obesity based on mutation of one gene product is called monogenic obesity. Mutations in genes for leptin, leptin receptor, proopiomelanocortin, prohormone convertase 1, melanocortin 4 and 3 receptor disrupt the physiological humoral signalization between peripheral signals and the hypothalamic centres of satiety and hunger. Defects of all above mentioned genes lead to phenotype of abnormal eating behaviour followed by a development of severe early-onset obesity. Mutations of melanocortin 4 receptor gene represent the most common cause of monogenic obesity because they are detected in almost 6 % children with early-onset severe obesity. Mutations of the other genes involved in energy homeostasis are very rare. Although these mutations are sporadic we assume that further research of monogenic forms of obesity might lead to our understanding of physiology and pathophysiology of regulation of the energy homeostasis and eating behaviour. Additionally, they may open new approach to the management of eating behaviour and to the treatment of obesity.
authors.affiliation: Klinika detí a dorostu 3. LF UK a FNKV, Praha. ihainer@hotmail.com
authors.forename: I
authors.initials: I
authors.lastname: Hainerová
mesh_terms: D004734:Energy Metabolism / Q000235:genetics*; D006801:Humans; D020738:Leptin / Q000235:genetics; D009154:Mutation; D009765:Obesity / Q000235:genetics*; D011333:Pro-Opiomelanocortin / Q000235:genetics; D045664:Proprotein Convertase 1 / Q000235:genetics; D011956:Receptors, Cell Surface / Q000235:genetics; D054411:Receptors, Leptin; D044101:Receptors, Melanocortin / Q000235:genetics
chemical_list: D020738:Leptin; D011956:Receptors, Cell Surface; D054411:Receptors, Leptin; D044101:Receptors, Melanocortin; D011333:Pro-Opiomelanocortin; D045664:Proprotein Convertase 1