By Jochen Schacht, Richard R. Fay
The prior decade has introduced nice advances in our knowing of the mechanisms underlying auditory pathologies. This quantity offers fresh advancements in study and their strength translation to the medical surroundings. It brings jointly the elemental and medical sciences very properly in that whereas such a lot chapters are written through easy scientists, every one subject has direct medical software or implication.
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Extra info for Auditory Trauma, Protection, and Repair (Springer Handbook of Auditory Research)
3 Usher Syndrome Usher syndrome (USH) is the most frequent autosomal recessive syndromic form of hearing loss. Dual sensory defects, involving hearing and sight, are obvious in all USH-affected individuals. Sensorineural hearing loss is congenital, whereas vision is usually adversely affected after the first decade of life and worsens over time, as part of a retinitis pigmentosa disorder (an eye impairment leading to blindness). More than 50% of the deaf–blind community in the United States is affected by USH, making it the most prevalent condition of genetic hearing and vision deformities.
Expression studies make it possible to follow the localization of the gene and protein and often help provide a hypothesis regarding function based on the temporal and spatial expression. For expression of genes, PCR can be performed to determine whether the gene is expressed in the inner ear and at what stage. An example for the Myo6 gene is shown in Fig. 1). For evaluation of quantity, real-time reverse transcriptase (RT)-PCR should be performed. An example for the Tmc1 gene is shown in Fig. 2.
As discussed, Alport syndrome can be the result of recessive, dominant or X-linked inheritance. Mutations in COL4A3 and COL4A4 accounting for recessively inherited Alport syndrome, mutations in COL4A5 account for an X-linked mode of inheritance, and roughly 1% of Alport syndrome families have dominant mutations in COL4A3 and COL4A4 . The COL4 gene family encodes collagen IV, the primary structural protein constituent of the basal lamina (basement membrane). Type IV collagen protein is composed of three chains encoded by three separate genes, which assemble to form a triple-helical molecule.