Genetic features of hormonal regulation of energy metabolism (literature review)

Summary: Many chronic diseases are associated with impaired human energy metabolism and its hormonal regulation. According to the WHO, there are more than 300 million people with obesity in the world, 24.1% of the population are suffering from obesity in Ukraine. Being overweight is one of the main factors in the development of type 2 diabetes, cardiovascular and oncological diseases, pathology of the musculoskeletal and digestive systems, as well as reproductive dysfunction. Obesity is a multifactorial disease. According to the results presented in the literature, the accumulation of fat in the subcutaneous and visceral region will lead to a change in the expression of genes encoding proteins that regulate energy metabolism. Leptin belongs to the group of adipocyte hormones of subcutaneous fat. The expression of leptin is regulated by several hormones, including insulin and glucocorticoids, and starvation also leads to a decrease of leptin concentration in plasma. Leptin reduces hunger, activates the use of fats in energy metabolism and inhibits the excessive accumulation of fat reserves. Leptin resistance may occur due to the presence of a mutation or polymorphic variation in its receptor gene. One of the most studied and clinically significant polymorphic variants of the leptin receptor gene (LEPR) is the replacement of glutamine amino acid with arginine at 223 positions (Q223R), which leads to a decrease in the sensitivity of receptors to leptin. Mutations in POMC lead to obesity, which is accompanied by atrophy of the adrenal cortex and multiple disorders. Mutations in MC4R lead to obesity in patients but ensure normal sexual development and adequate functioning of the endocrine glands. Now scientists on the whole world are actively developing methods to fight obesity, based on stimulating the functioning of cascades of leptin-dependent signaling