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目的报道1例33岁男性,头痛后继以卒中样发作,影像学提示基底节区和颞枕叶缺血性改变,肌肉活检证实线粒体结构和功能异常的患者的基因突变。方法我们应用基因分析未发现常见致病性突变,因此应用 DNA 芯片扫描线粒体基因全序列,寻找可能的致病突变。通过 DNA 芯片扫描线粒体基因全序列,应用直接测序法证实突变。结果在线粒体 DNA 共发现了3个新突变,其中 T6253C 突变导致细胞色素 C 氧化酶1第117位保守的蛋氨酸被苏氨酸取代,患者的母亲也携带相同的突变,而98名健康个体无人携带此突变,我们认为 T6253C 是导致该患者发病的致病突变。结论这是首例关于细胞色素 C 氧化酶1基因点突变导致线粒体脑肌病伴有高乳酸血症和卒中样发作综合征的报道。
Objective To report a 33-year-old man with a headache followed by a stroke-like attack. Imaging findings suggest ischemic changes in the basal ganglia and temporal occipital lobe. Muscle biopsies confirm mutations in the mitochondrial structure and dysfunction. Methods We found no common pathogenic mutations by gene analysis. Therefore, DNA chip was used to scan the complete sequence of mitochondrial DNA to find possible pathogenic mutations. The whole sequence of mitochondrial DNA was scanned by DNA chip, and the mutation was confirmed by direct sequencing. Results A total of three new mutations were found in mitochondrial DNA. The T6253C mutation resulted in the substitution of threonine for methionine at position 117 of cytochrome c oxidase 1 and the mothers of the patients carrying the same mutation, while no one in 98 healthy individuals With this mutation, we believe that T6253C is a disease-causing mutation that causes the patient’s disease. Conclusion This is the first report on a point mutation in the cytochrome C oxidase 1 gene that leads to mitochondrial encephalomyopathy associated with lactic acidosis and stroke-like episodes.