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首页> 外文期刊>Neuromuscular disorders: NMD >Characterization of a novel TYMP splice site mutation associated with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
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Characterization of a novel TYMP splice site mutation associated with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).

机译：与线粒体神经胃肠道脑病（MNGIE）相关的新型TYMP剪接位点突变的表征。

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摘要

Mitochondrial neurogastrointestinal encephalomyopathy is an autosomal recessive disorder caused by loss-of-function mutations in the thymidine phosphorylase gene (TYMP). We report here a patient compound heterozygous for two TYMP mutations: a novel g.4009G>A transition affecting the consensus splice donor site of intron 9, and a previously reported g.675G>C splice site mutation. The novel mutation causes exon 9 skipping but leaves the reading frame intact; however, TYMP protein was not detected by immunoblot analysis, suggesting that neither mutant allele is expressed as protein. The patient's fibroblasts showed gradual loss of the mitochondrial DNA-encoded subunit I of cytochrome-c oxidase, suggesting a progressive mitochondrial DNA defect in culture.
机译：线粒体神经胃肠道脑病是一种常染色体隐性遗传疾病，由胸苷磷酸化酶基因（TYMP）的功能丧失突变引起。我们在这里报告了两个TYMP突变的患者化合物杂合子：一个新的g.4009G> A过渡影响内含子9的共有剪接供体位点，以及先前报道的g.675G> C剪接位点突变。新型突变导致外显子9跳过，但阅读框保持完整;然而，通过免疫印迹分析未检测到TYMP蛋白，这表明突变等位基因均未表达为蛋白。患者的成纤维细胞显示线粒体DNA编码的细胞色素C氧化酶亚基I逐渐丢失，表明培养物中线粒体DNA进行性缺陷。

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