期刊
PHYSIOLOGY & BEHAVIOR
卷 227, 期 -, 页码 -出版社
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.physbeh.2020.113134
关键词
Obesity; Genetics; Leptin-melanocortin pathway; Monogenic non-syndromic
Monogenic non-syndromic obesity is characterized by severe early-onset obesity with abnormal eating behaviour and endocrine disorders. Genes contributing to these rare forms of obesity are mainly located in the leptin/melanocortin pathway, with typically an autosomal additive inheritance of obesity. The normal function of this hypothalamic pathway is essential for the control of energy balance. Genetic variants are involved in 5-30 % of severe early-onset obesity depending on explored populations. Compared to other genes in the pathway especially leptin (LEP), leptin receptor (LEPR), pro-opiomelanocortin (POMC) and prohormone convertase subtilisin/kexin type 1 (PCSK1), Melanocortin 4 receptor (MC4R)-linked obesity is characterized by obesity of variable severity with no notable endocrine phenotypes. Managing patients with monogenic non-syndromic obesity is clinically challenging since they display complex phenotypes and the obesity is often morbid and refractory to classical treatments. Until recent years, there has been a lack of effective and targeted pharmaceutical molecules except for leptin therapy that was available for leptin deficiency. The picture has changed and new promising molecules acting on the leptin-melanocortin pathway such as setmelanotide -a new MC4R agonist- are now emerging as novel targeted therapeutic opportunities.
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