Thirty years since the leptin discovery: messenger of adipose tissue, regulator of eating behavior and a unique drug

Česká verzia

Authors: Lebl Jan; Dušátková Petra; Malíková Křenek Jana
Authors place of work: Pediatrická klinika, 2. lékařská fakulta, Univerzita Karlova a Fakultní nemocnice v Motole, Praha
Published in the journal: Čes-slov Pediat 2024; 79 (3): 161-166.
Category: Comprehensive Report
doi: https://doi.org/10.55095/CSPediatrie2024/017

Summary

Leptin is produced in adipocytes and transmits the information about nutritional status to regulation centers in hypothalamic arcuate nucleus. It represents a key component of the homeostatic system of energy balance. Leptin deficiency due to pathogenic variants of LEP gene manifests as progressive obesity since the first months of life and a constant perception of hunger. It is accompanied by hyperinsulinemia, hypothyroidism, hypogonadotropic hypogonadism and delayed neuropsychological and cognitive development. The immune response is being impaired due to low number and limited proliferation capacity of T lymphocytes. Majority of children with leptin deficiency suffer from severe respiratory tract infections with hypoxia. They require frequent hospitalization at intensive care units, and 26% die within childhood. Therapeutic administration of recombinant leptin (metreleptin) is effective in LEP gene defects as well as in lipodystrophic syndromes with low leptin due to the fat tissue deficiency. Even lipodystrophic syndromes if untreated, reduce the life expectancy due to their serious metabolic sequalae.

Keywords:

leptin – leptin deficiency – LEP – regulation of eating behavior – leptin therapy – lipodystrophic syndromes

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