UVa couple battles deafness

From: Charlottesville Daily Progress, VA - Dec 31, 2004

By Reed Williams / Daily Progress staff writer
December 31, 2004

University of Virginia researcher Jeff Holt has lofty ambitions: He hopes to help cure deafness.

Holt and his wife, Gwenaelle Geleoc, both of whom are assistant professors in UVa's Department of Neuroscience, believe their research has brought them one step closer to that goal.

Collaborating with 14 scientists from outside UVa, the couple discovered the long-sought protein TRPA1 in mice, and they believe it also exists in humans. Located in the inner ear, TRPA1 converts sound into nerve impulses that are transmitted to the brain, Holt said.

Holt called the finding the "scientific equivalent to climbing Mount Everest."

"It might give us a window of opportunity to address deafness in humans," he said. "People have been looking for this [protein] for 25 years, and that's why it's such a big finding."

The 16-person team's research was published in the journal Nature in early December.

According to the findings, TRPA1 is found at the tips of hair-like sensory cells in the inner ear.

The protein works by forming a channel resembling a donut in the cell membrane of the sensory cells. The channel is closed when there is no sound, but when sound strikes the protein, the hole opens and an electrical signal is generated and relayed to the brain for interpretation, Holt said.

According to the study, the gene that encodes TRPA1 turns on in the same 18-hour period that the sensory cells begin to function.

"This opens a window of opportunity with significant implications for the field of hearing and deafness research and beyond," Geleoc said.

The research has raised many questions. Prominent among them, Holt said, is whether a mutation in the TRPA1 gene causes deafness. If so, he said, scientists possibly could replace the faulty gene with a functional TRPA1 gene to prevent inherited deafness.

Holt and Geleoc worked on the project with scientists at Northwestern University, Duke University, Harvard Medical School and the National Institutes of Health.

Holt hopes the finding will be an early step toward curing some of the one in 1,000 children born deaf.

"Given time," he said, "I'm pretty confident that we're going to be able to do it."

Contact Reed Williams at (434) 978-7263 or fwilliams@dailyprogress.com.

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