日本研究人員最近確認(rèn)了一種遺傳性重聽(tīng)基因,。動(dòng)物試驗(yàn)表明,，激活這種名為C－RET的基因有助于恢復(fù)患者的聽(tīng)力,。
日本中部大學(xué)教授加藤昌志和講師大神信孝領(lǐng)導(dǎo)的研究小組發(fā)現(xiàn),，C－RET基因具有促進(jìn)神經(jīng)生長(zhǎng)和維持神經(jīng)功能的作用,。在老鼠身上進(jìn)行的試驗(yàn)表明,，如果關(guān)閉C－RET基因,，老鼠內(nèi)耳中負(fù)責(zé)傳遞聲音信息的神經(jīng)細(xì)胞數(shù)目將大量減少，最終導(dǎo)致重聽(tīng)癥狀,；而激活C－RET基因,，相關(guān)神經(jīng)細(xì)胞數(shù)目又恢復(fù)到原有水平，聽(tīng)力也隨之恢復(fù),。
研究小組隨即對(duì)遺傳性重聽(tīng)患者進(jìn)行調(diào)查,，結(jié)果也確認(rèn)這些患者的C－RET基因功能異常。
這項(xiàng)研究成果29日發(fā)表在美國(guó)《國(guó)家科學(xué)院學(xué)報(bào)》網(wǎng)絡(luò)版上,。
上月底,，日本京都大學(xué)與美國(guó)國(guó)立衛(wèi)生研究院研究人員曾在美國(guó)《細(xì)胞》雜志上報(bào)告說(shuō)，如果一種名為T(mén)RIOBP的基因出現(xiàn)變異,，患者也會(huì)患上重聽(tīng)(詳細(xì)內(nèi)容-Cell：發(fā)現(xiàn)聽(tīng)覺(jué)遲鈍的新致病基因TRIOBP),。
遺傳性重聽(tīng)的發(fā)病率約為千分之一。雖然基因異常被認(rèn)為是導(dǎo)致重聽(tīng)的原因,，但其致病機(jī)制一直沒(méi)有弄清,。（生物谷www.bioon.net）
生物谷推薦原文出處：
PNAS doi: 10.1073/pnas.1004520107
c-Ret–mediated hearing loss in mice with Hirschsprung disease
Nobutaka Ohgamia, Michiru Ida-Etoa, Takashi Shimotakeb, Naomi Sakashitac, Michihiko Soned, Tsutomu Nakashimad, Keiji Tabuchie, Tomofumi Hoshinoe, Atsuyoshi Shimadaf, Toyonori Tsuzukig, Masahiko Yamamotoh, Gen Sobuei, Mayumi Jijiwaj, Naoya Asaij, Akira Harae, Masahide Takahashij, and Masashi Katoa,1
A significantly increased risk for dominant sensorineural deafness in patients who have Hirschsprung disease (HSCR) caused by endothelin receptor type B and SOX10 has been reported. Despite the fact that c-RET is the most frequent causal gene of HSCR, it has not been determined whether impairments of c-Ret and c-RET cause congenital deafness in mice and humans. Here, we show that impaired phosphorylation of c-Ret at tyrosine 1062 causes HSCR-linked syndromic congenital deafness in c-Ret knockin (KI) mice. The deafness involves neurodegeneration of spiral ganglion neurons (SGNs) with not only impaired phosphorylation of Akt and NF-κB but decreased expression of calbindin D28k in inner ears. The congenital deafness involving neurodegeneration of SGNs in c-Ret KI mice was rescued by introducing constitutively activated RET. Taken together with our results for three patients with congenital deafness with c-RET–mediated severe HSCR, our results indicate that c-Ret and c-RET are a deafness-related molecule in mice and humans.
