An update on autosomal recessive hearing loss and loci involved in it

Abstract

Hearing plays an important role in human development and childhood speech learning for the proper functioning and development of people in society. Hearing loss (HL) is one of the most abnormal disabilities that affect the human senses. This disability may be due to genetic or environmental factors or both. Congenital HL is a disorder that occurs in at least 1 in 1000 births. At least 42 genetic loci are associated with syndromes, while more than 163 are associated with nonsyndromic HL (NSHL), and no specific gene therapy treatment has yet been proposed. Investigate the types of genes involved in regulating hair cell adhesion “and evaluate functions such as intracellular transport, the release of neurotransmitters, ion homeostasis, and hair cell cytoskeleton, and whether defects in them can impair cochlear and inner ear function.” Can help diagnose and treat the disease through various methods, including gene therapy. Given the complex internal and external structures of the ear, nervous system, and auditory mechanisms, it is not surprising that abnormalities in hundreds of different genes may lead to HL. In recent years, with the increasing number of studies on genes involved in congenital HL, counseling and treatment options with the help of gene therapy have increased. In this study, we aimed to describe genes and proteins and their functions in NSHL in the inner ear for screening and diagnostic programs of live birth and classify the genes involved in this model of deafness to open the door to gene therapy. It is on these genes. We hope to develop new molecular and gene therapies for autosomal recessive NSHL.