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Hearing and Donuts (Brain and Bagels) Seminar

December 3, 2021 @ 8:30 am - 9:30 am

Presenter: Robert Fettiplace, PhD, Professor Neuroscience, UW Madison
Topic: A new human deafness mutation

Peripheral deafness resulting from death of cochlear hair cells can be caused by genetic mutations or environmental factors (such as loud noise). About 0.2 percent of children are born with genetic defects producing profound or progressive deafness. Many of these are attributable to mutations in single proteins in hair cells of the cochlea.  One essential protein is transmembrane channel-like protein (TMC1), the principal component of the mechano-electrical transducer channel. This ion channel is localized to the stereocilia and is responsible for converting sound stimuli into electrical signals.  We have found a new dominant human deafness mutation, TMC1 p.T422K, and have characterized the homologous mouse mutant, Tmc1 p.T416K, which causes deafness and outer hair cell (OHC) loss by the fourth postnatal week. We believe the deafness is attributable to a change in ion conduction through the transducer channel.


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Details

Date:
December 3, 2021
Time:
8:30 am - 9:30 am
Event Category:
Website:
https://bhsl.waisman.wisc.edu/brain-and-bagels-seminar/

Venue

Waisman Center
1500 Highland Ave
Madison, WI 53705