Hair cells, plasma membrane Ca²⁺ ATPase and deafness

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• 作者：Marta Giacomello^a ; ^b ; ; Agnese De Mario^a ; Simona Primerano^a ; Marisa Brini^c ; Ernesto Carafoli^a ; ^c ; ^{ernesto.carafoli@unipd.it}
• 关键词：[Ca2+] ; calcium concentration ; CaM ; calmodulin ; EF ; hand motif ; helix-loop ; helix calcium binding motif ; ER ; endoplasmic reticulum ; KO ; knock out ; MET ; mechano-electrical transduction ; PMCA ; plasma membrane calcium ATPase
• 刊名：The International Journal of Biochemistry and Cell Biology
• 出版年：2012
• 期刊代码：127_13572725
• 类别：med
• 出版时间：May, 2012
• 卷：44
• 期：5
• 页码：679-683
• 文件大小：698 K

摘要

Hearing relies on the ability of the inner ear to convert sound waves into electrical signals. The main actors in this process are hair cells. Their stereocilia contain a number of specific proteins and a scaffold of actin molecules. They are organized in bundles by tip-link filaments composed of cadherin 23 and protocadherin 15. The bundle is deflected by sound waves leading to the opening of mechano-transduction channels and to the influx of K⁺ and Ca²⁺ into the stereocilia. Cadherin 23 and the plasma membrane calcium ATPase isoform 2 (PMCA2) are defective in human and murine cases of deafness. While the involvement of cadherin 23 in deafness/hearing could be expected due to its structural role in the tip-links, that of PMCA2 has been discovered only recently. This review will summarize the structural and functional characteristics of hair cells, focusing on the proteins whose mutations may lead to a deafness phenotype.