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首页> 外文期刊>Neuromuscular disorders: NMD >Congenital myasthenic syndrome caused by a mutation in the Ets-binding site of the promoter region of the acetylcholine receptor epsilon subunit gene.
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Congenital myasthenic syndrome caused by a mutation in the Ets-binding site of the promoter region of the acetylcholine receptor epsilon subunit gene.

机译：先天性肌无力综合症是由乙酰胆碱受体ε亚基基因的启动子区域的Ets结合位点突变引起的。

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摘要

Forty-two missense, truncation, or splice-site mutations of the acetylcholine receptor (AChR) subunit genes have been reported to date in patients with congenital myasthenic syndromes. Here we report a homozygous mutation, epsilon-155G --> A, in the promoter region of the AChR epsilon subunit gene that converts the Ets-binding site of the promoter region from CGGAA to CAGAA. The asymptomatic parents and brother are heterozygous and an affected sister is homozygous for epislon-155G --> A. The Ets-binding site mediates synapse specific expression of the AChR epsilon subunit gene. An identical G-to-A mutation in the mouse Ets-binding site was previously shown to decrease the binding affinity of the Ets-binding site for the GA binding protein, a transactivating factor for the Ets-binding site, and to reduce the synapse specific expression of the epsilon subunit. The decreased synaptic expression of the epsilon subunit readily accounts for the congenital myasthenic phenotype.
机译：迄今为止，已有先天性肌无力综合症患者中乙酰胆碱受体（AChR）亚基基因的42个错义，截断或剪接位点突变。在这里，我们报告了AChR epsilon亚基基因的启动子区域中的纯合突变epsilon-155G-> A，该突变将启动子区域的Ets结合位点从CGGAA转换为CAGAA。无症状的父母和兄弟为Epislon-155G-> A的纯合子，受影响的姐妹为纯合子。Ets结合位点介导AChR epsilon亚基基因的突触特异性表达。先前显示，小鼠Ets结合位点中相同的G-to-A突变会降低Ets结合位点对GA结合蛋白的结合亲和力，Ets结合位点的反式激活因子并减少突触ε亚基的特定表达。 ε亚基的突触表达降低容易解释先天性肌无力表型。

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