Zhao Juan, Zhao Dan-hua, Zhang Wei, Lü He, Yuan Yun, Qi Yu, Wang Zhao-xia
Department of Neurology, Peking University First Hospital, Beijing 100034, China.
Zhonghua Yi Xue Za Zhi. 2012 Oct 30;92(40):2835-8.
To report the clinical features of mitochondrial disease caused by mitochondrial DNA (mtDNA) A8344G point mutation.
We analyzed the clinical presentations and muscular pathological changes in 10 patients with genetically confirmed mtDNA A8344G point mutation.
Among them, 6 patients presented as juvenile-onset myoclonic epilepsy with ragged red fibers (MERRF) syndrome, 2 suffered infant-onset Leigh syndrome and the remaining 2 were diagnosed as limb-girdle mitochondrial myopathy. The mtDNA A8344G mutation load from muscle samples showed that patients with Leigh syndrome>MERRF syndrome>mitochondrial myopathy (87.2%, 88.4%>69.0%-86.8%>67.2%, 58.4%).
Mitochondrial disease caused by A8344G point mutation shows a great heterogeneity. The mutation load of muscle mtDNA might be associated with the severity of clinical phenotype, the higher mutation load, the more severe clinical presentations.
报告线粒体DNA（mtDNA）A8344G点突变所致线粒体疾病的临床特征。
我们分析了10例经基因确诊为mtDNA A8344G点突变患者的临床表现及肌肉病理变化。
其中，6例表现为青少年型肌阵挛癫痫伴破碎红纤维（MERRF）综合征，2例为婴儿期发病的 Leigh 综合征，其余2例被诊断为肢带型线粒体肌病。肌肉样本的mtDNA A8344G突变负荷显示，Leigh综合征患者>MERRF综合征患者>线粒体肌病患者（87.2%，88.4%>69.0%-86.8%>67.2%，58.4%）。
A8344G点突变所致线粒体疾病表现出很大的异质性。肌肉mtDNA的突变负荷可能与临床表型的严重程度相关，突变负荷越高，临床表现越严重。
