Molecular-genetic foundations of energy exchange and physical qualities of man. Research perspectives

Abstract

Human physical qualities represent a complex trait influenced by environmental and genetic factors, with most traits being polygenic in nature. The study of the relationship between molecular genetic data, physical characteristics and metabolic individuality (regulation of biogenesis, energy balance, lipid metabolism, glucose homeostasis, etc.) is a promising vector of research, both in the population as a whole and in various nosologies, primarily for hereditary and metabolic diseases characterized by impaired physical development and metabolic balance, including cystic fibrosis (CF), obesity, diabetes mellitus. The first studies were devoted to the study of these parameters in athletes. The genotype-phenotype study in CF has been actively studied for the past few years. It has been shown that environmental factors can determine clinical polymorphism in CF, which account for nearly 50% of lung function variability in this disease. However, CF patients with similar molecular genetic variants of the CFTR gene and in a single habitat (for example, in siblings) can have highly variable clinical manifestations. Genes whose products provide cell energy exchange (PPARA, PPARG, PPARD, PGC-1, UCP2, UCP3, ACTN, ACE) can also be “modifiers” and have an effect on the phenotype, the difference in clinical manifestations of the disease of patients with CF, the relationship of which in this category of patients has not been studied. The world has seen a steady increase in obesity and its complications. Patients with CF from the category of persons with nutritional deficiency in recent decades began to move into the category of overweight patients, which requires study. This review summarizes the recent achievements of studying genes whose products provide energy exchange of the cell, discusses the development of the relationship both with the physical characteristics of individuals and with pathological changes in the body as a result of the appearance of metabolic products in excess or with altered physicochemical properties and functional activity parameters leading to various diseases.