Plectin deficiency leads to both muscular dystrophy and pyloric atresia in epidermolysis bullosa simplex.
Plectin deficiency leads to both muscular dystrophy and pyloric atresia in epidermolysis bullosa simplex.
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DOI：
10.1002/humu.21330
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发表时间：
2010-10
期刊：
影响因子：
3.9
通讯作者：
Shimizu, Hiroshi
中科院分区：
文献类型：
--
作者：
Natsuga, Ken;Nishie, Wataru;Shinkuma, Satoru;Arita, Ken;Nakamura, Hideki;Ohyama, Makiko;Osaka, Hitoshi;Kambara, Takeshi;Hirako, Yoshiaki;Shimizu, Hiroshi
凝集素是一种细胞骨架连接蛋白，具有长的中心杆和N-和C-末端球状结构域。编码凝集素（PLEC）的基因突变导致两种不同的常染色体隐性遗传型大疱性表皮病亚型：单纯EB（EBS）伴肌营养不良（EBS-MD）和EBS伴幽门闭锁（EBS-PA）。以前的研究已经证明，全长的无杆异构体的残余表达的损失导致EBS-MD，而全长和无杆的plectin的表达的完全损失或显着衰减的基础上更严重的EBS-PA表型。然而，在EBS-PA中从未发现过肌肉萎缩症，即使是严重的疾病也没有发现。在这里，我们报告了第一例与幽门闭锁和肌营养不良症相关的EBS。先证者的两个导致提前终止密码子的突变都位于PLEC的最后一个外显子32内。先证者皮肤样本和培养的成纤维细胞的免疫荧光和免疫印迹分析揭示了少量的截短的凝集素蛋白表达。这项研究表明，纤维素缺乏确实可以导致肌肉萎缩症和幽门闭锁在个别EBS患者。© 2010 Wiley-Liss公司。
Plectin is a cytoskeletal linker protein which has a long central rod and N- and C-terminal globular domains. Mutations in the gene encoding plectin (PLEC) cause two distinct autosomal recessive subtypes of epidermolysis bullosa: EB simplex (EBS) with muscular dystrophy (EBS-MD), and EBS with pyloric atresia (EBS-PA). Previous studies have demonstrated that loss of full-length plectin with residual expression of the rodless isoform leads to EBS-MD, whereas complete loss or marked attenuation of expression of full-length and rodless plectin underlies the more severe EBS-PA phenotype. However, muscular dystrophy has never been identified in EBS-PA, not even in the severe form of the disease. Here, we report the first case of EBS associated with both pyloric atresia and muscular dystrophy. Both of the premature termination codon-causing mutations of the proband are located within exon 32, the last exon of PLEC. Immunofluorescence and immunoblot analysis of skin samples and cultured fibroblasts from the proband revealed truncated plectin protein expression in low amounts. This study demonstrates that plectin deficiency can indeed lead to both muscular dystrophy and pyloric atresia in an individual EBS patient. © 2010 Wiley-Liss, Inc.
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DOI：
10.1083/jcb.134.6.1455
发表时间：
1996-09
期刊：
The Journal of cell biology
影响因子：
--
作者：
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通讯作者：
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通讯作者：
Zambruno, Giovanna
影响因子：
3.9
作者：
Natsuga, Ken;Nishie, Wataru;Shimizu, Hiroshi
通讯作者：
Shimizu, Hiroshi