A novel finding of anoctamin 5 expression in the rodent gastrointestinal tract.
A novel finding of anoctamin 5 expression in the rodent gastrointestinal tract.
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DOI：
10.1016/j.bbrc.2014.07.121
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发表时间：
2014-08
影响因子：
3.1
通讯作者：
Hai-yan Song;Yue-Min Tian;Yi-Min Zhang;Li Zhou;Hui Lian;Jin-Xia Zhu
中科院分区：
文献类型：
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作者：
Hai-yan Song;Yue-Min Tian;Yi-Min Zhang;Li Zhou;Hui Lian;Jin-Xia Zhu
Anoctamin 5(Anoctamin 5，ANO5)属于Anoctamin基因家族，是钙激活的氯离子通道(CACC)。Ano5基因的突变导致2L型肢体带状肌营养不良(LGMD)，这是北欧和中欧第三常见的LGMD。据报道，携带这种Ano5基因突变的患者存在肌膜修复缺陷。人们还注意到，LGMD患者通常患有非特异性咽-食道动力障碍。一项研究报告，19名携带Anno5螺帽的患者中有8名患有吞咽困难，包括感觉固体食物卡在食道上部。Ano5广泛分布于骨、骨骼肌、心肌、脑、心脏、肾脏和肺组织，但尚未见其在胃肠道的表达。在本研究中，我们通过逆转录-聚合酶链式反应(RT-PCR)、Western印迹和免疫荧光分析，研究了Ano5在小鼠胃肠道中的分布。结果表明，Ano5基因和蛋白在食道、胃、十二指肠、结肠和直肠中广泛表达，但仅在粘膜层有表达，而食道上部的肌层由骨骼肌组成。综上所述，我们目前的结果首次证明了Ano5在胃肠道上皮和食道骨骼肌中的表达。这一新发现有助于临床鉴别诊断和治疗。然而，还需要进一步研究Ano5在胃肠道功能中的作用。
Anoctamin 5 (Ano5) belongs to the anoctamin gene family and acts as a calcium-activated chloride channel (CaCC). A mutation in the Ano5 gene causes limb-girdle muscular dystrophy (LGMD) type 2L, the third most common LGMD in Northern and Central Europe. Defective sarcolemmal membrane repair has been reported in patients carrying this Ano5 mutant. It has also been noted that LGMD patients often suffer from nonspecific pharyngoesophageal motility disorders. One study reported that 8/19 patients carrying Ano5 nutations suffered from dysphagia, including the feeling that solid food items become lodged in the upper portion of the esophagus. Ano5 is widely distributed in bone, skeletal muscle, cardiac muscle, brain, heart, kidney and lung tissue, but no report has examined its expression in the gastrointestinal (GI) tract. In the present study, we investigated the distribution of Ano5 in the GI tracts of mice via reverse transcription-polymerase chain reaction (RT-PCR), Western blot and immunofluorescence analyses. The results indicated that Ano5 mRNA and protein are widely expressed in the esophagus, the stomach, the duodenum, the colon and the rectum but that Ano5 immunoreactivity was only detected in the mucosal layer, except for the muscular layer of the upper esophagus, which consists of skeletal muscle. In conclusion, our present results demonstrate for the first time the expression of Ano5 in the GI epithelium and in skeletal muscle in the esophagus. This novel finding facilitates clinical differential diagnosis and treatment. However, further investigation of the role of Ano5 in GI function is required.