Sensorineural hearing loss is the most common sensory deficit in humans,with an estimated prevalence of 1 in 500 newborns.Approximately half of childhood hearing loss is attributed to genetic factors and can be classi...Sensorineural hearing loss is the most common sensory deficit in humans,with an estimated prevalence of 1 in 500 newborns.Approximately half of childhood hearing loss is attributed to genetic factors and can be classified as syndromic or non-syndromic based on the inheritance pattern.The ion channel genesKCNQ1,KCNE1,KCNQ4,P2RX2,TMC1,KCNJ10,andCACNA1D have frequently been associated with genetic hearing loss.Because of the important roles these genes play in cochlear hair cell function and the auditory pathways,mutations in these genes that result in impaired ion channel function can lead to hereditary hearing loss.The main purpose of this review was to examine the latest research progress on the functional roles,inheritance pattern,gene expression,protein structure,clinical phenotypes,mouse models,and possible treatments of the most commonly studied ion channels associated with inherited deafness.A comprehensive summary could help highlight ion channels that should be investigated as potential drug targets for the treatment of inherited deafness.展开更多
基金supported by funds from the National Key R&D Program of China Project(No.2017YFA0103900)the National Natural Science Foundation of China(Nos.31571083,31970931)+2 种基金the Program for Professor of Special Appointment(Eastern Scholar of Shanghai,No.TP2014008)the Shanghai Municipal Science and Technology Major Project(Nos.2017SHZDZX01 and 2018SHZDZX01)ZJLab,and the Shanghai Rising-Star Program(No.14QA1400800).
文摘Sensorineural hearing loss is the most common sensory deficit in humans,with an estimated prevalence of 1 in 500 newborns.Approximately half of childhood hearing loss is attributed to genetic factors and can be classified as syndromic or non-syndromic based on the inheritance pattern.The ion channel genesKCNQ1,KCNE1,KCNQ4,P2RX2,TMC1,KCNJ10,andCACNA1D have frequently been associated with genetic hearing loss.Because of the important roles these genes play in cochlear hair cell function and the auditory pathways,mutations in these genes that result in impaired ion channel function can lead to hereditary hearing loss.The main purpose of this review was to examine the latest research progress on the functional roles,inheritance pattern,gene expression,protein structure,clinical phenotypes,mouse models,and possible treatments of the most commonly studied ion channels associated with inherited deafness.A comprehensive summary could help highlight ion channels that should be investigated as potential drug targets for the treatment of inherited deafness.
