SCREENING OF DEAFNESS SUBJECTS:MOLECULAR AND FUNCTIONAL CHARACTERIZATION

Gap junction intercellular communication(GJIC) represents an important class of contact-dependent signaling. In vertebrates, gap junctions are made up of a multi-gene family called Connexins (Cxs). Gap junctions are specialized regions of the plasma membrane in which hexameric oligomers, called connexons, dock end-to-end non-covalently across the narrow extracellular gap. In particular Gap Junction Beta Protein 2 (GJB2) encoding Cx26 protein is expressed in several tissues. In the inner ear the Cx26 protein is found in nonsensory epithelial cells surrounding the hair cells, which include supporting cells of the organ of Corti, inner sulcus cells and other structures. Several studies demonstrated that GJB2 mutations are linked to Sensorineural Hearing Loss (SNHL, both dominant and recessive form. Hearing impairment is a sensory disability that affects millions of people all over the world and is the most common connexin-related disease. The aims of this study is to understand the pathophysiological mechanism underlying hearing loss, to characterize novel variations identified and to effectuate a genotype-phenotype correlation in patients from Campania region with sporadic and familial deafness.