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噪声性聋的易感性与CDH23基因 被引量：1

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摘要 噪声性聋(noise induced hearing loss,NIHL)存在个体的易感性差异,是一种不可逆但可预防的听力损害。强噪声暴露可导致内耳感觉毛细胞上的静纤毛损害,而 CDH23对维持静纤毛束的正常组织形态起重要的作用,是第一个被证实可引起人类耳聋且与噪声性聋易感性有关的基因。编码钙黏蛋白23的 CDH23基因的突变可引起噪声性聋及老年性聋。
作者 郭晓民 薛希均 戴朴
机构地区 成都军区昆明总医院耳鼻咽喉头颈外科 解放军总医院耳鼻咽喉头颈外科
出处 《国际耳鼻咽喉头颈外科杂志》 2007年第6期331-333,共3页 International Journal of Otolaryngology-Head and Neck Surgery
基金 全军医药卫生科研基金课题科技攻关项目(06G110) 全军医药卫生科研基金课题面上项目(06ma142)
关键词 基因(Gene) 钙黏蛋白类(Cadherins) 听觉丧失 噪声性(Hearing Loss Noise—Induced)
分类号 R764 [医药卫生—耳鼻咽喉科]
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参考文献20

  • 1Carlsson PI, Van L, Borg E, et al. The influence of genetic variation in oxidative stress genes on human noise susceptibility. Hear Res, 2005, 202 (1-2) : 87-96.
  • 2Nelson DI, Nelson RY, Concha M, et al. The global burden of occupational noise induced hearing loss. Am J Ind Med, 2005, 48 (6) : 446-458.
  • 3Veuillet E, Martin V, Suc B, et al. Otoacoustic emissions and medial olivo cochlear suppression during auditory recovery from acoustic lrattmainhttmans. ActaOtolaryngol, 2001, 121 (2) : 278-283.
  • 4Davis R, Kozel P, Erway C, et al. Genetic influences in individual susceptibility to noise. Noise Health , 2003, 5 (20) : 19-28.
  • 5Chen GD, Fechter LD. The relationship between noise-induced hearing loss and hair cell loss in rats. Hear Res, 2003, 177 (1-2) : 81-90.
  • 6Holme RH, Steel KP. Progressive hearing loss and increased susceptibility to noise-induced hearing loss in mice carrying a Cdh23 but not a Myo7a mutation. J Assoc Res Otolaryngol, 2004, 5 (1) : 66-79.
  • 7ZhengQY, Yan D, OuyangXM, et al. Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans. Hum MolGenet, 2005, 14 (1) : 103-111.
  • 8Siemens J, Lillo C, Dumont RA, et al. Cadherin 23 is a component of the tip link in hair-cell stereocilia. Nature, 2004, 428 (6986) : 950-955.
  • 9Holme RH, Steel KP. Stereocilia defects in waltzer (Cdh23) , shakerl (Myo7a) and double waltzer/shakerl mutant mice. Hear Res, 2002, 169 (1-2) : 13-23.
  • 10Bork JM, Peters LM, Riazuddin S, et al. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23 . Am J Hum Genet, 2001, 68 (1) : 26-37.

二级参考文献8

  • 1Henderson D,Hamernik RP.Biologic bases of noise-induced hearing loss.Occup Med State Art Rev,1995,10:513-534.
  • 2Davis RR,Kozel P,Erway LC.Genetic influences in individual susceptibility to noise:a review.Noise Health,2003,5(20):19-28.
  • 3Talbott EO,Gibson LB,Burks A,et al.Evidence for a dose-response relationship between occupational noise and blood pressure.Arch Environ Health,1999,54:71-78.
  • 4Holme RH,Steel KP.Progressive hearing loss and increased susceptibility to noise-induced hearing loss in mice carrying a Cdh23 but not a Myo7a mutation.J Assoc Res Otolaryngol,2004,5(1) :66-79.
  • 5Siemens J,Lillo C,Dumont RA,et al.Cadherin 23 is a component of the tip link in hair-cell stereocilia.Nature,2004,428(6986) :950-955.
  • 6Bolz H,von Brederlow B,Ramirez A,et al.Mutations in Cdh23,encoding a new type of cadherin,cause stereocilia disorganization in waltzer,the mouse model for Usher syndrome type 1D.Nat Genet,2001,27(1):103-107.
  • 7Wilson SM,Householder DB,Coppola V,et al.Mutations in Cdh23cause nonsyndromic hearing loss in waltzer mice.Genomics,2001,74(2):228-233.
  • 8Noben-Trauth K,Zheng QY,Johnson KR.Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural hearing loss.Nat Genet,2003,35(1):21-23.

共引文献27

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国际耳鼻咽喉头颈外科杂志
2007年 第6期

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