A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction

Article Abstract:

Research based on a family with a strong prevalence of morbid obesity occurring early in life has identified a homozygous mutation in the human leptin receptor gene that leads to a truncated leptin receptor. This receptor lacks both the transmembrane and the intracellular domains. Those homozygous for this mutation lack pubertal development and have reduced secretion of growth hormone and thyrotropin. It can be stated that leptin is a vital link between energy stores and hypothalamic pituitary functions in humans.

Physiological aspects, Leptin

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Susceptibility to leprosy is associated with PARK2 and PACRG

Article Abstract:

The expression pattern of PARK2 and PACRG in selected human tissues and cell types is tested. Variants in the regulatory region shared by PARK2 and PACRG act as common risk factors for leprosy.

Science & research, Care and treatment, Research, Causes of, Chromosomes, Leprosy

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