CONNEXIN MUTATIONS IN X-LINKED CHARCOT-MARIE-TOOTH DISEASE
CONNEXIN MUTATIONS IN X-LINKED CHARCOT-MARIE-TOOTH DISEASE
复制标题
DOI：
10.1126/science.8266101
复制
发表时间：
1993-12-24
期刊：
影响因子：
56.9
通讯作者：
FISCHBECK, KH
中科院分区：
文献类型：
--
作者：
BERGOFFEN, J;SCHERER, SS;FISCHBECK, KH
X-连锁腓骨肌萎缩症（CMTX）是一种遗传性神经病与脱髓鞘。最近，这种疾病被定位到染色体Xq13.1。差距连接蛋白connexin 32的基因位于同一染色体片段中，这导致其被认为是CMTX的候选基因。应用北方（RNA）杂交和免疫组化技术，发现缝隙连接蛋白32在有髓周围神经中正常表达。连接蛋白32基因的直接测序显示，在8个CMTX家庭的受影响的人有7种不同的突变。这些研究结果表明间隙连接蛋白的遗传缺陷，表明连接蛋白32在外周神经中起着重要作用。
X-linked Charcot-Marie-Tooth disease (CMTX) is a form of hereditary neuropathy with demyelination. Recently, this disorder was mapped to chromosome Xq13.1. The gene for the gap junction protein connexin32 is located in the same chromosomal segment, which led to its consideration as a candidate gene for CMTX. With the use of Northern (RNA) blot and immunohistochemistry technique, it was found that connexin32 is normally expressed in myelinated peripheral nerve. Direct sequencing of the connexin32 gene showed seven different mutations in affected persons from eight CMTX families. These findings, a demonstration of inherited defects in a gap junction protein, suggest that connexin32 plays an important role in peripheral nerve.