Study: Mutated gene causes hearing loss
Posted on: Monday, 24 August 2009, 14:38 CDT
U.S. scientists have identified a deafness-causing genetic defect in mice that's led to the discovery of a new protein that protects sensory cells in the ear.
Researchers at the University of Iowa and Kansas State University say hereditary deafness is one of the most common birth defects, yet most genes involved in hearing are unidentified. Mice are used as research models because mouse and human auditory genetics are very similar.
Using a deaf mouse model, the researchers identified the deafness-causing defect in the claudin-9 gene. That mutated gene fails to produce normal claudin-9 protein, which, the University of Iowa team showed, is needed to maintain the proper distribution of potassium in the inner ear.
Genes in the claudin family number at least 24 and produce proteins that prevent ions, including potassium, from moving between cells,
said University of Iowa Assistant Professor Botond Banfi, the study's senior author. Sensory cells in the hearing organ are bathed in a high potassium solution on one side and in a low potassium solution on the other side. We found claudin-9 is very important in keeping the amount of potassium on the two sides separate. This separation protects sensory cells from potassium intoxication.
When claudin-9 is mutated, potassium floods the wrong part of the sensory cells, killing most and leaving the remaining ones functionally defective.
The study appears in the journal PLoS Genetics.
Source: United Press International
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