By Jochen Schacht, Richard R. Fay
The prior decade has introduced nice advances in our figuring out of the mechanisms underlying auditory pathologies. This quantity provides contemporary advancements in examine and their power translation to the medical environment. It brings jointly the fundamental and scientific sciences very properly in that whereas so much chapters are written through uncomplicated scientists, every one subject has a beautiful direct scientific software or implication.
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Extra info for Auditory Trauma, Protection, and Repair (Springer Handbook of Auditory Research)
1995; Forge et al. 1999), allows maintenance of a high cochlear potential. The above hypothesis is based on the expression profile of connexin 26 in the cochlea, which is markedly noticeable in the bulky gap junctions of supporting cells of the sensory hair cells of the cochlea, the spiral ligament and in the spiral limbus (Kikuchi et al. 1995; Lautermann et al. 1998). 2. 2 Connexin 30 Connexin 30 is the protein product of the GJB6 gene, which lies within the same genetic interval of GJB2 gene, DFNB1.
B. Avraham pendrin protein (Everett et al. 1997). Pendrin was defined as an anion transporter protein operating in the inner ear, thyroid, and kidney. It is considered to be the causative mutation in most Pendred syndrome cases, as well as the underlying gene in DFNB4 nonsyndromic deafness. The phenotype–genotype correlation between the goiter and PDS function has been elucidated. Normal pendrin permits passage of iodide in the thyroid gland, which is then used for the assembly of the hormone thyroxine.
2005). This finding made an enormous impact in the hearing loss field, as it facilitated diagnostic and genetic screening of NSHL patients. Another mutation imperative to note is 167delT, which is most frequent among Ashkenazi Jews and is also present in Palestinians (Sobe et al. 1999; Shahin et al. 2002). The most accepted theory regarding the role of connexin 26 in the inner ear is that it propagates the recycling of potassium ions necessary for the transmission of the auditory signal within hair cells, through gap junctions situated between supporting cells.