Deafness is an etiologically heterogeneous trait with many known genetic, environmental causes or a combination thereof. The identification of more than 120 independent genes for deafness has provided profound new ins...Deafness is an etiologically heterogeneous trait with many known genetic, environmental causes or a combination thereof. The identification of more than 120 independent genes for deafness has provided profound new insights into the pathophysiology of hearing. However, recent findings indicate that a large proportion of both syndromic and nonsyndromic forms of deafness in Chinese population are caused by a small number of mutations. This review is focused on syndromic and nonsyndromic deafness as well as on the latest information linking inherited mitochondrial pathologies to a variety of etiologies of sensorineural deafness in Chinese population. Better understanding of the genetic causes of deafness in Chinese population is important for accurate genetics counseling and early diagnosis for timely intervention and treatment options.展开更多
Each component of the human ear performs a specific function in hearing.The actual process of sound transduction takes place in the auditory portion of the inner ear,the fluid-filled cochlea.In the cochlea,the sensiti...Each component of the human ear performs a specific function in hearing.The actual process of sound transduction takes place in the auditory portion of the inner ear,the fluid-filled cochlea.In the cochlea,the sensitivity and efficiency of sensory apparatus to convert mechanical energy into neural activity,largely depends on the fluidic and ionic environment.In the lateral wall of cochlea,the secretory epithelium stria vascularis plays an important role in the maintenance of fluidic and ionic homeostasis.A variety of gene mutations disturbs the cochlear homeostasis and subsequently leads to hearing impairment.The review covers several aspects of cochlear homeostasis,from cochlear fluid and the functional role of stria vascularis,cochlear K+ recycling and its molecular substrates to genetic deafness with abnormal cochlear homeostasis.展开更多
基金This study is supported by grants from NIH DC R01 05575(USA)and NSFC 30528025(China)to LIU Xuezhong.
文摘Deafness is an etiologically heterogeneous trait with many known genetic, environmental causes or a combination thereof. The identification of more than 120 independent genes for deafness has provided profound new insights into the pathophysiology of hearing. However, recent findings indicate that a large proportion of both syndromic and nonsyndromic forms of deafness in Chinese population are caused by a small number of mutations. This review is focused on syndromic and nonsyndromic deafness as well as on the latest information linking inherited mitochondrial pathologies to a variety of etiologies of sensorineural deafness in Chinese population. Better understanding of the genetic causes of deafness in Chinese population is important for accurate genetics counseling and early diagnosis for timely intervention and treatment options.
文摘Each component of the human ear performs a specific function in hearing.The actual process of sound transduction takes place in the auditory portion of the inner ear,the fluid-filled cochlea.In the cochlea,the sensitivity and efficiency of sensory apparatus to convert mechanical energy into neural activity,largely depends on the fluidic and ionic environment.In the lateral wall of cochlea,the secretory epithelium stria vascularis plays an important role in the maintenance of fluidic and ionic homeostasis.A variety of gene mutations disturbs the cochlear homeostasis and subsequently leads to hearing impairment.The review covers several aspects of cochlear homeostasis,from cochlear fluid and the functional role of stria vascularis,cochlear K+ recycling and its molecular substrates to genetic deafness with abnormal cochlear homeostasis.
