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Clinica Chimica Acta：Deoxythymidylate kinase, DTYMK是一种用于线粒体DNA 缺失综合症的新基因

2019-10-18 gladiator MedSci原创

线粒体DNA缺失
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线粒体DNA缺失综合征是一组异质性非特异性疾病。其共同特征是线粒体DNA的定量缺失，而没有定性缺陷。这些疾病的诊断较难，通常需要对整个外显子组测序的诊断。

线粒体DNA缺失综合征是一组异质性非特异性疾病。其共同特征是线粒体DNA的定量缺失，而没有定性缺陷。这些疾病的诊断较难，通常需要对整个外显子组测序的诊断。

在胸苷生物合成途径的DTYMK基因中，发现一对具有低张力、小头畸形和严重智力障碍的四亲兄妹携带有两个反式杂合突变体。生信分析显示线粒体DNA缺失已被证明在更严重的兄弟姐妹中出现。

因此，我们建议考虑将DTYMK作为线粒体DNA缺失综合征(MDDS)的相关基因之一。DTYMK可能是线粒体核苷酸回收途径中缺失的环节，但还需要进一步的鉴定和更多的证据。

原始出处：

Ching-wan Lam,Wai-Lan Yeung,Deoxythymidylate kinase, DTYMK, is a novel gene for mitochondrial DNA depletion syndrome

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    2019-12-06 仁者大医

    #CTA#

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    2020-08-26 whmdzju

    #线粒体DN#

    0

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    2019-10-20 jambiya

    #线粒体DNA#

    0

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    2019-10-20 12498b3em14(暂无昵称)

    #新基因#

    0