By Jochen Schacht, Richard R. Fay
The previous decade has introduced nice advances in our realizing of the mechanisms underlying auditory pathologies. This quantity provides contemporary advancements in examine and their capability translation to the scientific environment. It brings jointly the fundamental and medical sciences very properly in that whereas such a lot chapters are written through easy 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)
In vertebrates, the protein constructing unit of this junction is a connexin. Two connexons form hemichannel structures, each made of six subunits of connexins, resting within the plasma membrane of neighboring cells adjacent to each other to create the gap junction channel (Sabag et al. 2005). In the inner ear, a network of these junctions is situated between the ephithelial supporting cells. Thus far, three connexin genes have been implicated in NSHL: CX26, CX30, and CX31, corresponding to the proteins connexin 26, connexin 30, and connexin 31, which are designated by their molecular mass (connexin 26, for example, has a mass of 26 kDa; Gerido and White 2004; Sabag et al.
5). To examine connexin mutations and proper localization of gap junction formation, the gene has been cloned in expression vectors and fused to a reporter, GFP, to enable localization of the wild-type and mutant proteins. In this way, many 34 E. B. 4. Expression of Pou4f3, myosin VI, and Lhx3 in the auditory and vestibular systems, demonstrated by immunohistochemistry with antibodies against each protein. 5 (green in online version). Actin can be visualized with phalloidin (red in online version).
The mutant cochlear phenotype is accompanied by progressive degeneration of the organ of Corti, resulting eventually 2. Genetics of Hearing Loss 25 in profound deafness (Libby and Steel 2001). By virtue of using these models, mutations in the MYO7A human homologue were identified as the genetic cause for Usher syndrome type 1B (Weil et al. 1995, 1996) and Usher syndrome type 2A (Maubaret et al. 2005). Contiguous to this discovery, human MYO7A was also linked to NSHL in two distinctive loci: DFNB2 (Weil et al.
Auditory Trauma, Protection, and Repair (Springer Handbook of Auditory Research) by Jochen Schacht, Richard R. Fay