Sensory organs are ideally suited to detect environmental signals and have maximum sensitivity to various stimuli. Congenital hearing loss associated with dysfunction of hair cells, receptors that perceive sound, is the most common sensory deficit in humans, which in most cases is associated with genetic causes. The reason of the significant role of genetics lies in the complex structure of the auditory analyser, which contains various types of highly specialized cells and proteins that ensure the function of hair cells. Removal or replacement of even one nucleotide in the genes encoding these proteins can disrupt the function of the well-coordinated high-precision system of the inner ear. The purpose of this article is to acquaint readers with the molecular structure of the auditory analyser, the hereditary forms of hearing loss and the modern possibilities for diagnostics and prevention of hereditary hearing loss. The main problem of genetic causes is related to the fact that a child with congenital deafness is born from a pair of healthy parents whose pedigree is “not burdened”, but at the same time they are carriers of mutations in the genes responsible for hearing impairment. Such carriage can now be found out even before the birth of the child thanks to the use of next-generation sequencing (NGS) methods. Prevention of severe hereditary diseases is gradually being introduced into the practice of medical and genetic counselling of healthy couples when planning offspring, and the development of preimplantation diagnostics methods within the framework of in vitro fertilization (IVF) programs allows couples at risk of hereditary diseases to give birth to a healthy child.
T.G. Markova (Wed,) studied this question.