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Genetic cause of progressive hearing loss discovered

November 07, 2015

But one essential question remained-was there a parallel gene in humans that also caused hearing impairment?

To find out, the Mueller lab reached out to Professor Richard J. H. Smith, the Sterba Hearing Research Professor at Carver College of Medicine, Iowa State University. Smith had been spearheading an effort to collect DNA samples from deaf families for years, and had hundreds of groups of samples in which to search for Loxhd1. Indeed, when the analysis was completed, the team found that mutations in the Loxhd1 gene were present in some of these families with hearing loss.

Clues to Age-Related Deafness

This is the third hearing-related gene that the Mueller lab has discovered, and one he is particularly excited about.

"In humans, the prevailing difficulty is progressive hearing loss," he said. "As you age, you lose your hearing slowly. Since this mutation can lead to progressive hearing loss, it provides us with more information on the genetic underpinnings of this condition and gives us clues as to how it might be corrected."

Mueller's lab is currently investigating the possibility that a therapeutic drug could be effective in reversing the molecular problems that result from the defective gene.

The first authors of the paper, "Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans," are Nicolas Grillet and Martin Schwander of Scripps Research.

Source: Scripps Research Institute