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Study finds new role for protein in hearing
Date:8/15/2011

happening in Usher syndrome where the harmonin protein is mutated is that there are too many calcium channels available, which causes abnormal signaling at the synapses.

"We are most excited about the idea that this mutation could contribute to the disease process of Usher syndrome in a way that was not imagined before," Lee added. "It may eventually be possible to alter this interaction between harmonin and the calcium channels in a way that might be useful as a therapy for patients with this form of Usher syndrome."

Harmonin is also expressed in the retina -- the light-sensitive tissue in the eye -- which is affected in Usher syndrome, and there are calcium channels in the photoreceptor cells of the retina. It is not known how the harmonin mutation affects the retina and how it might contribute to blindness in Usher syndrome, but that is another area of research Lee's team hopes to investigate.


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Contact: Jennifer Brown
jennifer-l-brown@uiowa.edu
319-356-7124
University of Iowa Health Care
Source:Eurekalert

Page: 1 2

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