日本研究人員最近確認了一種遺傳性重聽基因。動物試驗表明，激活這種名為C－RET的基因有助於恢復患者的聽力。
日本中部大學教授加藤昌志和講師大神信孝領導的研究小組發現，C－RET基因具有促進神經生長和維持神經功能的作用。在老鼠身上進行的試驗表明，如果關閉C－RET基因，老鼠內耳中負責傳遞聲音信息的神經細胞數目將大量減少，最終導致重聽症狀；而激活C－RET基因，相關神經細胞數目又恢復到原有水平，聽力也隨之恢復。
研究小組隨即對遺傳性重聽患者進行調查，結果也確認這些患者的C－RET基因功能異常。
這項研究成果29日發表在美國《國家科學院學報》網絡版上。
上月底，日本京都大學與美國國立衛生研究院研究人員曾在美國《細胞》雜誌上報告說，如果一種名為TRIOBP的基因出現變異，患者也會患上重聽(詳細內容-Cell：發現聽覺遲鈍的新致病基因TRIOBP)。
遺傳性重聽的發病率約為千分之一。雖然基因異常被認為是導致重聽的原因，但其致病機制一直沒有弄清。（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.