May 2021 Korea Biomedical Review

Auditory neuropathy spectrum disorder (ANSD) is a hearing disorder in which the cochlea's outer hair cells are present and functional, but patients have a diminished ability to distinguish voice.

An international research team has found how a genetic mutation of transmembrane protein 43 (TMEM43) causes auditory neuropathy spectrum disorder in people, suggesting cochlear implant can recover their hearing loss. They analyzed the family tree of a group of Korean and Chinese people with progressive ANSD. The genetic tests showed a common TMEM43 mutation in the participants. Similar results were produced in a mouse model injected with the mutated TMEM43. The animal study showed that TMEM43 protein plays a key role in maintaining homeostasis in the cochlea by regulating the function of the gap junction, which could induce ANSD if the protein makes a mutation.

Based on that study results, the joint research team of Korea, China, and the U.S. implanted an artificial cochlear to three patients suffering hearing difficulty due to abnormal TMEM43 to replace the auditory function of the cochlea. Patients could normally hear after the implantation, confirming it was an accurate therapeutic option for those with hearing difficulty caused by TMEM43 mutation.

"We wish to contribute to the diagnosis and treatment of hearing loss with the recent discovery of new genes linked to hearing loss and pathological mechanisms," Professor Choi said. "The study is a good example of precision medicine that 

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