epidermal-growth-factor and Deafness

Microdeletions Glu767(1-bp del), Thr967(1-bp del), and Leu1446(2-bp del) in the human USH2A gene have been reported to cause Usher syndrome type II, a disorder characterized by retinitis pigmentosa (RP) and mild-to-severe hearing loss. Each of these three frameshift mutations is predicted to lead to an unstable mRNA transcript that, if translated, would result in a truncated protein lacking the carboxy terminus. Here, we report Cys759Phe, a novel missense mutation in this gene that changes an amino-acid residue within the fifth laminin-epidermal growth factor-like domain of the USH2A gene and that is associated with recessive RP without hearing loss. This single mutation was found in 4.5% of 224 patients with recessive RP, suggesting that USH2A could cause more cases of nonsyndromic recessive RP than does any other gene identified to date.

Topics: Alleles; Amino Acid Sequence; Base Sequence; Deafness; Epidermal Growth Factor; Extracellular Matrix Proteins; Female; Genes, Recessive; Humans; Laminin; Male; Molecular Sequence Data; Mutation, Missense; Pedigree; Protein Structure, Tertiary; Retinitis Pigmentosa; Syndrome

To study the expression of epidermal growth factor receptor (EGFR) on cochlear hair cells of normal and explosion-stricken guinea pigs and the effects of epidermal growth factor (EGF) and dexamethasone (DXM) treatment for blast hearing loss.. Immunohistochemical technique and auditory brainstem response (ABR) test were used.. Scattered expression of EGFR was seen in inner hair cells (IHCs) and outer hair cells (OHCs) in normal guinea pigs. Segmentally distributing positive reaction was also located in stereocilia of hair cells. Distribution of EGFR reaction was seen in the cytoplasm of IHC 24 hours after exposure to blasts, and in the stereocilia of IHC and the cuticular plate of OHC 72 hours postexposure. At one week EGFR reaction in hair cells increased obviously and part of OHC stereocilia also showed positive reaction. EGFR reaction reduced at two weeks, though positive reaction could still be found in the stereocilia of hair cells at one month. Combination of EGF and DXM administrations promoted hearing recovery significantly.. The healing of injured hair cells may be related to EGF.

Topics: Animals; Blast Injuries; Deafness; Dexamethasone; Epidermal Growth Factor; ErbB Receptors; Explosions; Guinea Pigs; Hair Cells, Auditory; Random Allocation