...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Balkan journal of medical genetics: BJMG >MITOCHONDRIAL DNA MUTATIONS IN TWO BULGARIAN CHILDREN WITH AUTISTIC SPECTRUM DISORDERS
【24h】

MITOCHONDRIAL DNA MUTATIONS IN TWO BULGARIAN CHILDREN WITH AUTISTIC SPECTRUM DISORDERS

机译：患有自闭症的两个保加利亚儿童线粒体DNA突变

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

Autism is a neurodevelopmental disorder of unknown origin that manifests in early childhood. Autism spectrum disorders (ASDs) refer to a broader group of neurobiological conditions, pervasive developmental disorders. Despite several arguments for a strong genetic contribution, the molecular basis in most cases remains unexplained. Several studies have reported an association between ASDs and mutations in the mitochondrial DNA (mtDNA) molecule. In order to confirm these causative relationship, we screened 21 individuals with idiopathic ASDs for a number of the most common mtDNA mutations. We identified two patients with candidate mutations: m.6852G>A that produces an amino acid change of glycine to serine in the MT-CO1 gene and m.8033A>G (Ile->Val) in the MT-CO2 gene. Overall, these findings support the notion that mitochondrial mutations are associated with ASDs.
机译：自闭症是一种起源于儿童的未知来源的神经发育障碍。自闭症谱系障碍（ASD）是指广泛的神经生物学疾病，普遍性发育障碍。尽管有几个关于强大的遗传贡献的争论，但是在大多数情况下分子基础仍然无法解释。几项研究报告了ASD与线粒体DNA（mtDNA）分子突变之间的关联。为了确认这些因果关系，我们筛选了21名患有特发性ASD的个体，发现了许多最常见的mtDNA突变。我们确定了两名具有候选突变的患者：m.6852G> A在MT-CO1基因中产生甘氨酸到丝氨酸的氨基酸变化，而m.8033A> G（MT-CO2基因中的Ile-> Val）发生变化。总体而言，这些发现支持线粒体突变与ASD相关的观点。

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