Rare KCNQ4 variants found in public databases underlie impaired channel activity that may contribute to hearing impairment

Autor: Jinsei Jung, Haiyue Lin, Young Ik Koh, Kunhi Ryu, Joon Suk Lee, John Hoon Rim, Hye Ji Choi, Hak Joon Lee, Hye-Youn Kim, Seyoung Yu, Hyunsoo Jin, Ji Hyun Lee, Min Goo Lee, Wan Namkung, Jae Young Choi, Heon Yung Gee
Jazyk: angličtina
Rok vydání: 2019
Předmět:
Zdroj: Experimental and Molecular Medicine, Vol 51, Iss 8, Pp 1-12 (2019)
Druh dokumentu: article
ISSN: 1226-3613
2092-6413
DOI: 10.1038/s12276-019-0300-9
Popis: Deafness: Missed mutations raise risk of hearing loss A gene associated with hereditary hearing loss may play a greater role than previously recognized in age-related auditory impairment. Many cases of autosomal dominant non-syndromic hearing loss (ADNSHL) arise from defects in KCNQ4, a protein that maintains the cellular ionic conditions needed for normal inner ear function. Researchers led by Heon Yung Gee and Jae Young Choi at Yonsei University College of Medicine, Seoul, South Korea, have now uncovered numerous previously overlooked mutations in the gene encoding KCNQ4 that may also contribute to adult-onset hearing loss. Their survey of human genome databases revealed 23 additional sequence variants that can meaningfully impair function of this protein. The effects of some of these mutations can be at least partially corrected with existing chemical compounds, indicating the potential to protect a subset of ADNSHL patients from future deafness.
Databáze: Directory of Open Access Journals
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