...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Neuromuscular disorders: NMD >Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1).
【24h】

Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1).

机译：由骨骼肌α-肌动蛋白基因（ACTA1）突变引起的肌肉疾病。

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

Mutations in the skeletal muscle alpha-actin gene (ACTA1) associated with congenital myopathy with excess of thin myofilaments, nemaline myopathy and intranuclear rod myopathy were first described in 1999. At that time, only 15 different missense mutations were known in ACTA1. More than 60 mutations have now been identified. This review analyses this larger spectrum of mutations in ACTA1. It investigates the molecular consequences of the mutations found to date, provides a framework for genotype-phenotype correlation and suggests future studies in light of results of investigation of normal and mutant actin in other systems, notably the actin specific to the indirect flight muscles of Drosophila. The larger series confirms that the majority of ACTA1 mutations are dominant, a small number are recessive and most isolated cases with no previous family history have de novo dominant mutations. The severity of the disease caused ranges from lack of spontaneous movements at birth requiring immediate mechanical ventilation, to mild disease compatible with life to adulthood. Overall, the mutations within ACTA1 are randomly distributed throughout the protein. However, the larger series of mutations now available indicates that there may be clustering of mutations associated with some phenotypes, e.g. actin myopathy. This would suggest that interference with certain actin functions may be more associated with certain phenotypes, though the exact pathophysiology of the actin mutations remains unknown.
机译：与先天性肌病相关的骨骼肌α-肌动蛋白基因（ACTA1）突变涉及稀薄的细丝，肾上腺素肌病和核内棒状肌病。1999年当时，ACTA1仅知道15种不同的错义突变。现已鉴定出60多个突变。这篇综述分析了ACTA1中这种更大范围的突变。它研究了迄今为止发现的突变的分子后果，提供了基因型-表型相关性的框架，并根据对其他系统中正常肌动蛋白和突变肌动蛋白的研究结果，特别是果蝇间接飞行肌肉特有的肌动蛋白，对未来的研究提出了建议。 。较大的序列证实，ACTA1突变多数为显性突变，少数为隐性突变，且大多数无既往家族史的孤立病例具有从头突变。引起的疾病严重程度从出生时缺乏自发运动需要立即进行机械通气到与生活相适应直至成年的轻度疾病。总体而言，ACTA1中的​​突变随机分布在整个蛋白质中。然而，现在可获得的更大系列的突变表明，可能存在与某些表型相关的突变聚类。肌动蛋白肌病。这表明尽管肌动蛋白突变的确切病理生理机制尚不清楚，但对某些肌动蛋白功能的干扰可能与某些表型更为相关。

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