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Genes and Mutations in Hearing Impairment

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Genetics of Auditory Disorders

Part of the book series: Springer Handbook of Auditory Research ((SHAR,volume 14))

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5. Summary

The programmed expression of proteins is required for hearing. This chapter describes the structure of chromosomes and genes and delineates how the processes of DNA transcription and RNA translation are required to form functional proteins. In cases of genetic hearing loss, mutations have occurred in either transcription or translation of the genes that encode for proteins crucial for the proper development, structure and function of the inner ear. By identifying these genes, and defining the mutation in them that cause deafness, a better understanding of the biology of hearing will be attained. These studies may one day in the future enable the “correction” of genetic mutations through gene therapy, or regeneration of hair cells. New sensory hair cells are not formed postnatally, and during aging these important cells degenerate. Studies into why and how the inner ear cells degenerate during “accelerated” hearing loss will likely provide clues to what happens during the normal aging process.

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Avraham, K.B., Hasson, T. (2002). Genes and Mutations in Hearing Impairment. In: Keats, B.J.B., Fay, R.R., Popper, A.N. (eds) Genetics of Auditory Disorders. Springer Handbook of Auditory Research, vol 14. Springer, New York, NY. https://doi.org/10.1007/0-387-21853-X_2

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  • DOI: https://doi.org/10.1007/0-387-21853-X_2

  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-0-387-98501-5

  • Online ISBN: 978-0-387-21853-3

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