近日，柏林分子醫(yī)學(xué)中心的神經(jīng)學(xué)家Max Delbrück 研究發(fā)現(xiàn),，控制老鼠和人類晶狀體發(fā)育的一個(gè)已知基因也對(duì)機(jī)械感覺功能的神經(jīng)元的發(fā)育有至關(guān)重要的作用。相關(guān)研究成果于近日刊登在了國際雜志Science上,。
研究者發(fā)現(xiàn),，在老鼠的神經(jīng)細(xì)胞中破壞掉c-Maf基因，觸覺就會(huì)喪失,，缺失c-Maf基因的人在幼年將會(huì)患上白內(nèi)障,，伴有典型的晶狀體模糊，而且到成年后影響會(huì)很大,。研究者所研究的病人,，根本不能夠很好的定位物體哪怕是一張紙，就因?yàn)樵摶虻拇_實(shí)就會(huì)造成這樣嚴(yán)重的后果,。
發(fā)育生物學(xué)家Birchmeier教授這樣評(píng)論他們的發(fā)現(xiàn)以及他們的研究：c-Maf基因在次級(jí)神經(jīng)細(xì)胞的發(fā)育中非常重要,，這個(gè)基因控制著觸覺神經(jīng)和機(jī)械感覺神經(jīng)的發(fā)育，早在以前就有研究表明了,，該基因是一個(gè)晶狀體發(fā)育的重要調(diào)節(jié)子,。
此外，c-Maf基因在背根神經(jīng)節(jié)中也很活躍,，背根神經(jīng)節(jié)是在脊髓附近聚集的神經(jīng)細(xì)胞混合體,，而眾多的機(jī)械感覺神經(jīng)細(xì)胞在脊髓中聚集，神經(jīng)細(xì)胞來源于長的神經(jīng)軸突,，這些長的神經(jīng)軸突在皮膚中變?yōu)橛|覺小體或者毛干,，這些軸突可以檢測到機(jī)械的刺激物，從而轉(zhuǎn)化為電信號(hào),，最終傳遞到大腦,，就好比你敲擊自己指頭一下,，這種結(jié)構(gòu)將會(huì)觸發(fā)指頭進(jìn)行高頻減震，特殊的觸覺感受器-環(huán)層小體將會(huì)做出反應(yīng),。
在c-Maf基因失效的老鼠體內(nèi),，有很少量的環(huán)層小體生成，而且這些形成的環(huán)層小體并不完整,，因此這些老鼠不能進(jìn)行高頻率的減震,，當(dāng)然了，對(duì)于有c-Maf基因缺失遺傳的瑞士人家庭來說也是如此,，所以最終的結(jié)果將會(huì)導(dǎo)致在成年以后,，該基因缺失的病人在成年以后會(huì)出現(xiàn)白內(nèi)障和觸覺的缺失。（生物谷：T.Shen編譯）
doi:10.1126/science.1214314
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PMID:
The Transcription Factor c-Maf Controls Touch Receptor Development and Function
Hagen Wende1, Stefan G. Lechner2, Cyril Cheret1, Steeve Bourane3, Maria E. Kolanczyk1, Alexandre Pattyn4, Katja Reuter1,*, Francis L. Munier5, Patrick Carroll4, Gary R. Lewin2, Carmen Birchmeier1,†
The sense of touch relies on detection of mechanical stimuli by specialized mechanosensory neurons. The scarcity of molecular data has made it difficult to analyze development of mechanoreceptors and to define the basis of their diversity and function. Here, we show that the transcription factor c-Maf/c-MAF is crucial for mechanosensory function in mice and humans. The development and function of several rapidly adapting mechanoreceptor types are disrupted in c-Maf mutant mice. In particular, Pacinian corpuscles, a type of mechanoreceptor specialized to detect high-frequency vibrations, are severely atrophied. In line with this, sensitivity to high-frequency vibration is reduced in humans carrying a dominant mutation in the c-MAF gene. Thus, our work identifies a key transcription factor specifying development and function of mechanoreceptors and their end organs.
