• 1990 (Vol.4)
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Volume 39 #4

Contents

  1. KNOWLEDGE OF THE GENETIC CAUSES OF HEARING LOSS IS THE KEY TO ITS PREVENTION
  2. HYPERACUSIS: LITERATURE REVIEW AND CLASSIFICATION
  3. TOPOGRAPHY OF GANGLION CELLS IN THE MAMMAL’S RETINA: ECOLOGICAL AND EVOLUTIONARY ASPECTS
  4. SPATIAL HEARING IN ELDERLY PEOPLE WITH CENTRAL AUDITORY DISORDERS OF VARIOUS ORIGINS
  5. FEATURES OF AUDITORY PERCEPTION OF RHYTHMIC SOUND SEQUENCES IN ELDERLY PEOPLE WITH NORMAL AND IMPAIRED HEARING
  6. POTENTIAL FOR MOVEMENT COORDINATION AND BALANCE DEVELOPING IN CHILDREN WITH HEARING IMPAIRMENTS UNDER CONDITIONS OF PARENT-ASSISTED TRAINING
  7. LONGITUDINAL STUDY OF SPONTANEOUS AND EVOKED ACTIVITY OF MITRAL/TAFT NEURONS IN THE OLFACTORY BULB OF RATS
  8. IMPLEMENTATION AND TESTING OF AN AUTOMATIC DATA PROCESSING ALGORITHM FOR A DIGITAL OCULOGRAPH

KNOWLEDGE OF THE GENETIC CAUSES OF HEARING LOSS IS THE KEY TO ITS PREVENTION

© 2025 T. G. Markova, M. V. Markova

Saint Petersburg Research Institute of Ear, Throat, Nose and Speech of the Ministry of Health of the Russian Federation, 190013 Saint Petersburg, Bronnitskaya St., 9, Russian Federation
Federal State Budgetary Educational Institution of Additional Professional Education “Russian Medical Academy of Continuous Professional Education”; Department of Surdology, 125993, Moscow, Barrikadnaya St., 2/1, Russian Federation
State Budgetary Healthcare Institution “Scientific Research Clinical Institute of Otolaryngology named after L.I. Sverzhevsky” of the Moscow Department of Health; 117152, Moscow, Zagorodnoye Highway, 18a/building 2, Russian Federation

Received 01 Aug 2025

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.

Key words: congenital non-syndromic hearing loss, Corti’s organ, GJB2 gene, prevention of hereditary diseases, recessive diseases

DOI: 10.7868/S3034593625040019

Cite: Markova T. G., Markova M. V. Znanie o geneticheskikh prichinakh tugoukhosti – klyuch k profilaktike [Knowledge of the genetic causes of hearing loss is the key to its prevention]. Sensornye sistemy [Sensory systems]. 2025. V. 39(4). P. 5–20 (in Russian). doi: 10.7868/S3034593625040019

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