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Auditory neuropathy

All nerves can be affected by neuropathy, even the nerves to the eye and the nerves to the ear. Auditory neuropathy is a rare discorder, and in July 2010 researcers found the cause of this afliction in the genes:

In the study published online on July 12 in the Proceedings of the National Academy of Sciences USA, U-M’s Marci Lesperance, M.D., and Margit Burmeister, Ph.D. led a team of researchers who examined the DNA of individuals from the same large family afflicted with the disorder.

The researchers identified a mutation in theDIAPH3 gene that causes over-production of a compound known as a diaphanous protein. In previous studies, hearing loss has been linked to a related gene that also affects a diaphanous protein.

“Since we previously knew of only two genes associated with auditory neuropathy, finding this gene mutation is significant,” says Lesperance, professor in U-M’s Department of Otolaryngologyand chief of the Division of Pediatric Otolaryngology.

“This discovery will be helpful in developing genetic tests in the future, which will be useful not only for this family, but for all patients with auditory neuropathy,” Lesperance says.

From a press release at the net.