Zhonghua yi xue za zhi · 2012
[Clinical heterogeneity associated with mitochondrial DNA A8344G point mutation].
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Zhao Juan, Zhao Dan-hua, Zhang Wei, Lü He, Yuan Yun, Qi Yu, Wang Zhao-xia
Аннотация
OBJECTIVE: To report the clinical features of mitochondrial disease caused by mitochondrial DNA (mtDNA) A8344G point mutation.
METHODS: We analyzed the clinical presentations and muscular pathological changes in 10 patients with genetically confirmed mtDNA A8344G point mutation.
RESULTS: 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%).
CONCLUSIONS: 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.
METHODS: We analyzed the clinical presentations and muscular pathological changes in 10 patients with genetically confirmed mtDNA A8344G point mutation.
RESULTS: 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%).
CONCLUSIONS: 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.