期刊
MITOCHONDRIAL DNA
卷 24, 期 3, 页码 297-302出版社
TAYLOR & FRANCIS LTD
DOI: 10.3109/19401736.2012.760071
关键词
Mitochondrial disorders; respiratory chain complex deficiency; mitochondrial DNA; 3243A > G mutation
资金
- National Nature Science Foundation of China [30872794]
- 12th Five-year Plan National Key Technology R & D Program from the Ministry of Science and Technology [2012BAI09B04]
- Beijing Nature Science Foundation [7081002]
To study the clinical, biochemical, and genetic heterogeneity of six Chinese patients and their mothers with the 3243 A>G mutation, six patients (ranging from 5 to 11 years) were hospitalized. All the mothers were healthy. Mitochondrial respiratory chain enzyme activities were determined by spectrophotometry. Mitochondrial gene was analyzed in all patients. Six core pedigrees were investigated. Two patients had mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome and one had Leigh syndrome. The common initial symptoms were headache, vomiting, blurred vision, and epilepsy. m. 3243A>G mutation was detected in all patients and their mothers. The mutation loads ranged from 43.6% to 58% and those of their mothers ranged from 14.1% to 28.6%. Varied respiratory chain deficiencies were observed in all patients and two mothers. m. 3243A>G mutation can result in a wide spectrum of respiratory chain complex deficiencies. Mitochondrial DNA mutation detected in blood may be likely to transmit to offspring, and the mutation load may increase.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据