Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy
Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy
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DOI：
10.1038/ng.464
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发表时间：
2009-11-01
期刊：
影响因子：
30.8
通讯作者：
Huebner, Christian A.
中科院分区：
文献类型：
--
作者：
Kurth, Ingo;Pamminger, Torsten;Huebner, Christian A.
遗传性感觉和自主神经病II型（HSAN II）由于伤害感受受损和自主神经功能障碍而导致严重的截肢。在这里，我们表明，FAM134 B，编码一个新发现的顺式高尔基体蛋白的功能丧失突变，导致HSAN II。Fam134b基因敲低可导致顺式高尔基体区室结构改变，并诱导一些原代背根神经节神经元凋亡。这暗示FAM134 B在伤害感受神经元和自主神经节神经元的长期存活中是关键的。
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.