Fig. 1
From: Estimated prevalence of potentially damaging variants in the leptin gene
Pathologies in the leptin and leptin receptor pathway. Simplified representation of the secretion of leptin in the adipocytes and the interaction with the leptin receptor in the hypothalamus. a Regular function of leptin. Following secretion from adipocytes, leptin can activate the hypothalamic leptin receptor which reduces food intake and results in decreases in adipocyte volume and body fat. b–d Functional defects of leptin or the leptin receptor result in uncontrolled food intake and increases in adipocyte volume and body fat. Mutations can either affect the leptin receptor (b), the production and secretion of leptin (c), or the interaction of leptin with its receptor (d)