...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Nature Genetics >Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4.
【24h】

Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4.

机译：肩oper骨脊髓性肌萎缩症和CMT2C是由TRPV4改变引起的等位基因疾病。

获取原文
获取原文并翻译 | 示例
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

Scapuloperoneal spinal muscular atrophy (SPSMA) and hereditary motor and sensory neuropathy type IIC (HMSN IIC, also known as HMSN2C or Charcot-Marie-Tooth disease type 2C (CMT2C)) are phenotypically heterogeneous disorders involving topographically distinct nerves and muscles. We originally described a large New England family of French-Canadian origin with SPSMA and an American family of English and Scottish descent with CMT2C. We mapped SPSMA and CMT2C risk loci to 12q24.1-q24.31 with an overlapping region between the two diseases. Further analysis reduced the CMT2C risk locus to a 4-Mb region. Here we report that SPSMA and CMT2C are allelic disorders caused by mutations in the gene encoding the transient receptor potential cation channel, subfamily V, member 4 (TRPV4). Functional analysis revealed that increased calcium channel activity is a distinct property of both SPSMA- and CMT2C-causing mutant proteins. Our findings link mutations in TRPV4 to altered calcium homeostasis and peripheral neuropathies, implying a pathogenic mechanism and possible options for therapy for these disorders.
机译：肩oper骨脊髓性肌萎缩症（SPSMA）和遗传性运动和感觉神经病IIC型（HMSN IIC，也称为HMSN2C或Charcot-Marie-Tooth疾病2C型（CMT2C））是表型异质性疾病，涉及到地形上截然不同的神经和肌肉。我们最初用SPSMA描述了一个由法国-加拿大起源的新英格兰大家庭，以及一个由CMT2C组成的美国英语和苏格兰裔大家庭。我们将SPSMA和CMT2C风险基因座映射到12q24.1-q24.31，两种疾病之间存在重叠区域。进一步的分析将CMT2C的风险位点降低到4-Mb区域。在这里，我们报告SPSMA和CMT2C是由编码瞬时受体潜在阳离子通道，亚家族V，成员4（TRPV4）的基因突变引起的等位基因疾病。功能分析表明，增加的钙通道活性是引起SPSMA和CMT2C的突变蛋白的独特特性。我们的发现将TRPV4的突变与钙稳态和周围神经病变的改变联系起来，这暗示着致病机制和治疗这些疾病的可能选择。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号