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Gene for Hereditary Deafness Identified in Mutant Mice

Last Updated: August 27, 2009.

The identification of a claudin-9 gene defect in mice with hereditary deafness has led to the discovery of a new protein, missing in the mutant mice, which is needed to protect sensory cells in the ear from destructive potassium concentrations, according to a study in the Aug. 21 issue of PLoS Genetics.

THURSDAY, Aug. 27 (HealthDay News) -- The identification of a claudin-9 gene defect in mice with hereditary deafness has led to the discovery of a new protein, missing in the mutant mice, which is needed to protect sensory cells in the ear from destructive potassium concentrations, according to a study in the Aug. 21 issue of PLoS Genetics.

Yoko Nakano, Ph.D., of the University of Iowa in Iowa City, and colleagues studied a new mutant mouse line (nmf329) with inherited deafness. The deafness of the mice was established through experiment and measurements of the auditory brainstem response at age 28 days. The deaf mice were bred with hearing mice, and then those offspring were bred back with nmf329 mice to narrow the genetic loci of the gene causing deafness. The researchers were able to narrow the hunt to three genes, then used sequence analysis to identify the crucial mutation in the claudin-9 gene.

The researchers discovered that the mutated claudin-9 gene fails to produce a protein that is needed to keep potassium concentrations from destroying sensory cells in the hearing organs of the deaf mice.

"Overall, our data indicate that claudin-9 is required for the preservation of sensory cells in the hearing organ because claudin-9-defective tight-junctions fail to shield the basolateral side of hair cells from the K+-rich endolymph," the authors write.

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