有少數(shù)人先天沒有痛覺，無法對痛覺作出正常反應(yīng)以避開危險(xiǎn),，并且容易發(fā)生嚴(yán)重自殘,，這是因?yàn)樗麄兓加泻币姷南忍煨詿o痛癥。一個(gè)國際研究小組日前報(bào)告說,，他們發(fā)現(xiàn)了導(dǎo)致某種先天性無痛癥的基因變異,。
先天性無痛癥即遺傳性感覺和自律神經(jīng)障礙（HSAN），主要因胚胎發(fā)育時(shí)外胚層發(fā)育不全導(dǎo)致,，共分為I型、II型等5種類型,。
德國漢堡—埃彭多夫大學(xué)醫(yī)院日前發(fā)表公報(bào)說,，由該院研究人員領(lǐng)導(dǎo)的一個(gè)國際研究小組對一個(gè)成員普遍患有II型先天性無痛癥的家族進(jìn)行了分析研究,，結(jié)果發(fā)現(xiàn)，許多家族成員5號染色體上的FAM134B基因都發(fā)生了變異,。
研究人員說,，F(xiàn)AM134B基因常見于背根節(jié)神經(jīng)元中，后者是負(fù)責(zé)將感覺信息傳遞給中樞神經(jīng)系統(tǒng)的初級感覺神經(jīng)元,。研究發(fā)現(xiàn),，抑制FAM134B的基因表達(dá)會(huì)導(dǎo)致一些背根節(jié)神經(jīng)元凋亡。FAM134B基因變異也會(huì)導(dǎo)致其無法表達(dá),，進(jìn)而導(dǎo)致背根節(jié)神經(jīng)元凋亡,，阻礙人們對疼痛的感知。
這一研究成果已發(fā)表在新一期英國《自然—遺傳學(xué)》雜志上,。（生物谷Bioon.com）
生物谷推薦原始出處：
Nature Genetics 41, 1179 - 1181 (2009) 18 October 2009 | doi:10.1038/ng.464
Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy
Ingo Kurth1,13, Torsten Pamminger2,13, J Christopher Hennings2, Désirée Soehendra1, Antje K Huebner2, Annelies Rotthier3,4, Jonathan Baets4,5, Jan Senderek6, Haluk Topaloglu7, Sandra A Farrell8, Gudrun Nürnberg9,10, Peter Nürnberg9,10,11, Peter De Jonghe4,5, Andreas Gal1, Christoph Kaether12, Vincent Timmerman3,4 & Christian A Hübner1,2
Hereditary sensory and autonomic neuropathy type II (HSAN II) leads to severe mutilations because of impaired nociception and autonomic dysfunction. Here we show that loss-of-function mutations in FAM134B, encoding a newly identified cis-Golgi protein, cause HSAN II. Fam134b knockdown results in structural alterations of the cis-Golgi compartment and induces apoptosis in some primary dorsal root ganglion neurons. This implicates FAM134B as critical in long-term survival of nociceptive and autonomic ganglion neurons.
1 Department of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
2 Department of Clinical Chemistry, Friedrich-Schiller-Universit?t Jena, Jena, Germany.
3 Peripheral Neuropathy Group, VIB Department of Molecular Genetics, University of Antwerp, Antwerpen, Belgium.
4 Neurogenetics Laboratory, Institute Born-Bunge, University of Antwerp, Antwerpen, Belgium.
5 Neurogenetics Group, VIB Department of Molecular Genetics, University of Antwerp, Antwerpen, Belgium.
6 Institute of Cell Biology, ETH Zürich, Zürich, Switzerland.
7 Department of Pediatric Neurology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
8 Credit Valley Hospital, Department of Laboratory Medicine, Mississauga, Ontario, Canada.
9 Cologne Center for Genomics, University of Cologne, Cologne, Germany.
10 Institute for Genetics, University of Cologne, Cologne, Germany.
11 Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany.
12 Leibniz Institute for Age Research–Fritz Lipmann Institute, Jena, Germany.
13 These authors contributed equally to this work.
