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JAMA Neurol：YARS2相关的线粒体肌病的临床特征与分子异质性

2017-04-11 MedSci MedSci原创

YARS2线粒体肌病Leu392Ser突变
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p.Leu392Ser突变是新的YARS2突变型，对于线粒体脑肌病患者有早期风险监测作用

YARS2突变与中东地区的肌病，乳酸性酸中毒，铁粒幼细胞性贫血临床三联征有关。研究人员通过临床、分子和遗传特征的方法研究YARS2新突变型与线粒体疾病的关系。

研究中有17例YARS2相关的线粒体肌病患者。其中15人(88%)具有全身性肌病伴血乳酸水平升高；有12例(71%)表现为铁粒幼细胞性贫血；9例(53%)肥厚型心肌病以及8例(47%)呼吸功能不全。肌肉测试表明所有患者缺乏细胞色素C氧化酶以及呼吸链复合体活性缺陷。微基因分型显示有所有患者均存在p.leu392ser变异。免疫印迹法和酵母模型显示新的p.leu392ser 导致的YARS2突变与线粒体肌病临床表型严重程度相关。

试验表明p.Leu392Ser突变是新的YARS2突变型，对于线粒体脑肌病患者有早期风险监测作用，对于高风险人群主张定期监测和早期治疗心肌病和呼吸肌无力，以显着降低的患者的发病率和死亡率。

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    2018-02-17 liubm555

    #分子异质性#

    0

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    2017-09-02 yinhl1978

    #Neurol#

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    2017-07-14 yeye5224612

    #临床特征#

    0

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    2017-04-13 爆笑小医

    #肌病#

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