Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutieres syndrome and mimic congenital viral brain infection
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutieres syndrome and mimic congenital viral brain infection
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DOI：
10.1038/ng1842
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发表时间：
2006-08-01
期刊：
影响因子：
30.8
通讯作者：
Jackson, Andrew P.
中科院分区：
文献类型：
--
作者：
Crow, Yanick J.;Leitch, Andrea;Jackson, Andrew P.
Aicardi-Goutieres综合征（AGS）是一种常染色体隐性遗传的神经系统疾病，其临床和免疫学特征与先天性病毒感染相似。在这里，我们定义的人核糖核酸酶H2酶复合物的组成，并表明，AGS可以导致突变的基因编码的任何一个它的三个亚基。我们的研究结果表明核糖核酸酶H在人类神经系统疾病中的作用，并表明核糖核酸酶H2和抗病毒免疫反应之间存在意想不到的关系，值得进一步研究。
Aicardi-Goutieres syndrome (AGS) is an autosomal recessive neurological disorder, the clinical and immunological features of which parallel those of congenital viral infection. Here we define the composition of the human ribonuclease H2 enzyme complex and show that AGS can result from mutations in the genes encoding any one of its three subunits. Our findings demonstrate a role for ribonuclease H in human neurological disease and suggest an unanticipated relationship between ribonuclease H2 and the antiviral immune response that warrants further investigation.