Bases Genéticas de las Hipoacusias

ELGOYHEN AB

Buenos Aires

Simposio; XXII Congreso Latinoamericano y 1ro Iberoamericano de Ciencias Fisiológicas; 2006

Hearing impairment (HI) is the most common sensory disorder. Approximately 1 in 1000 children is born deaf or hearing impaired or develops HI during early childhood. An additional large part of the population experiences progressive hearing impairment by the age of 65. Genetic factors are probably responsible for more than 50% of the cases of early-onset HI, whereas in most cases of late-onset HI a combination of genetic as well as environmental factors is involved. Today, more than 100 nonsyndromic deafness loci have been mapped, and 40 of the responsible genes are identified (G. Van Camp and R.J.H.Smith: Hereditary Hearing Loss Homepage, http://www.uia.ac.be/dnalab/hhh/). Based on their function, deafness-causing genes can be divided into different classes including cytoskeletal components, extracellular matrix components, molecules involved in maintaining ion homeostasis, transcription factors, receptors and their ligands, cellular trafficking proteins, molecules belonging to the cadherin superfamily and genes with an unknown function. The presentation will focus on the known deafness genes in relation to their participation in the normal process of hearing.