Amirkhanova M. The role of polymorphism of apoptotic cascade genes in the development of sensorineural deafness.

Sensorineural deafness (SND) is a disease that has a multifactorial etiology and pathogenesis. It is characterized by a perceptual impairment of auditory function and is caused by damage to any part of the auditory analyzer – from the receptors of the auditory nerve to the auditory zone of the cerebral cortex. According to various sources, the incidence of SNP is estimated from 5 to 30 cases per 100,000 populations each year. People with hearing loss have been found to have higher rates of hospitalization, dementia, depression and even mortality. About 80% of patients with sensorineural hearing loss (SND) note the presence of noise in the head, in one or both ears (tinnitus). With timely, early referral of the patient for help and coordinated work of doctors, one can expect an increase in the positive results of therapy and the prognosis for recovery or improvement of the hearing condition. Perceptual disorders can be congenital or acquired. The most studied etiopathogenesis factors are vascular, age and acoustic. The frequency of congenital forms is quite high among the population – 1/1000 newborns, and is the most common congenital defect in developed societies. Hereditary hearing loss accounts for about 40-45% of all cases of hearing impairment. During the last decades, more and more scientific studies are appearing, studying the role of polymorphism of various genes in the pathogenesis of sensorineural hearing disorders. One of these directions for twenty years has been dedicated to the role of apoptosis in the pathogenesis of perceptual hearing impairment. Under the conditions of physiological functioning of the body, tissues and cells in it, there is a balance between the formation of new cells and their destruction and death. Certain genotypes can have an impact on this balance and contribute to the increased activity of apoptosis processes. The study of the polymorphism of Bcl-2 (anti-apoptotic), Bax and Bid (pro-apoptotic) genes and its influence on the occurrence and development of perceptual hearing disorders due to apoptosis may become the basis for genetic diagnosis and gene therapy of sensorineural deafness in the future.