摘要
In all the connexin-associated human diseases, deafness is one of the most important diseases with high frequency. The mu- tations of GJB2 （gap junction protein β2, also called connexin 26, Cx26） gene link with nonsyndromic or syndromic senso- rineural hearing loss and were shown to account for a large proportion of congenital deaf cases in many studied populations （del Castillo and del Castillo, 2011）. For example, the 235de1C mutation in GJB2 shows the frequency of approximately 1% and is the most frequent mutation in East Asian population （Yan et al., 2003）. Many efforts have been put to study the function of Gjb2 gene in both mouse model and human. In mouse, extensive deletion of Gjb2 causes embryo lethal due to the decreased transplacental glucose uptake, which was not found in human （Takata and Hirano, 1997; Gabriel et al., 1998）. In human, GJB2 deficiency is not able to cause embryo lethal （D＇Andrea et al., 2002）. However, the study of GJB2-associated hearing loss is hampered by many difficulties, such as unobtainable human cochlea and acoustic nerve tissues, and therefore the GJB2-associated hearing loss are underlying mechanisms of still remaining unclear.
In all the connexin-associated human diseases, deafness is one of the most important diseases with high frequency. The mu- tations of GJB2 （gap junction protein β2, also called connexin 26, Cx26） gene link with nonsyndromic or syndromic senso- rineural hearing loss and were shown to account for a large proportion of congenital deaf cases in many studied populations （del Castillo and del Castillo, 2011）. For example, the 235de1C mutation in GJB2 shows the frequency of approximately 1% and is the most frequent mutation in East Asian population （Yan et al., 2003）. Many efforts have been put to study the function of Gjb2 gene in both mouse model and human. In mouse, extensive deletion of Gjb2 causes embryo lethal due to the decreased transplacental glucose uptake, which was not found in human （Takata and Hirano, 1997; Gabriel et al., 1998）. In human, GJB2 deficiency is not able to cause embryo lethal （D＇Andrea et al., 2002）. However, the study of GJB2-associated hearing loss is hampered by many difficulties, such as unobtainable human cochlea and acoustic nerve tissues, and therefore the GJB2-associated hearing loss are underlying mechanisms of still remaining unclear.
基金
supported by grants from the National Key Basic Research Programs of China (Nos. 2012CB966600 and 2012CB967900)
the National Natural Science Foundation Project (No. 31371506)
the 12th Five-Year National Key Technologies R&D Program (No. 2012BAI12B00)
