有少数人先天没有痛觉，无法对痛觉作出正常反应以避开危险，并且容易发生严重自残，这是因为他们患有罕见的先天性无痛症。一个国际研究小组日前报告说，他们发现了导致某种先天性无痛症的基因变异。
先天性无痛症即遗传性感觉和自律神经障碍（HSAN），主要因胚胎发育时外胚层发育不全导致，共分为I型、II型等5种类型。
德国汉堡—埃彭多夫大学医院日前发表公报说，由该院研究人员领导的一个国际研究小组对一个成员普遍患有II型先天性无痛症的家族进行了分析研究，结果发现，许多家族成员5号染色体上的FAM134B基因都发生了变异。
研究人员说，FAM134B基因常见于背根节神经元中，后者是负责将感觉信息传递给中枢神经系统的初级感觉神经元。研究发现，抑制FAM134B的基因表达会导致一些背根节神经元凋亡。FAM134B基因变异也会导致其无法表达，进而导致背根节神经元凋亡，阻碍人们对疼痛的感知。
这一研究成果已发表在新一期英国《自然—遗传学》杂志上。（生物谷Bioon.com）
生物谷推荐原始出处：
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.
