ESPE Abstracts

Introduction: Leptin, an adipokine secreted mainly by adipose tissue, is a regulator of energy balance acting through central mechanisms on the hypothalamus. However, leptin has many functions regulating e.g., immune system and reproduction. Leptin exerts its biological effects through its receptor, the expression of which has been demonstrated in several tissues. There are several leptin receptor isoforms, but activation of only one of them, the long form, re...

Obesity presents a major worldwide challenge, due to its numerous, severe adverse effects on health. This leads to a necessity to further investigate the mechanisms underlying lipid accumulation. The adipocytokine leptin may contribute to this process. While there already has been thorough research into central leptin action, deepening our understanding of leptin’s effects on whole-body energy homeostasis, relatively little is known about its auto- and paracrine effects....

Background/Objectives: Obesity poses a major public health concern. Although studies estimate that the heritability of BMI lies around 40–50%, the underlying genetics are still poorly understood. In monogenic obesity, solitary genetic variations significantly increase obesity risk. We therefore aim to (1) report the diagnostic yield of monogenic obesity using exome-wide data in a large cohort of over 500 individuals and aim to (2) improve future diagnost...