在一个慢性进行性眼外肌麻痹（CPEO）家系中鉴定出一种新的线粒体tRNA(Val) T1658C突变。
A novel mitochondrial tRNA(Val) T1658C mutation identified in a CPEO family.
作者信息
Yan Naihong, Cai Shuping, Guo Bo, Mou Yi, Zhu Jing, Chen Jun, Zhang Ting, Li Ronghua, Liu Xuyang
机构信息
Ophthalmic Laboratories and Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, Sichuan, PR China.
出版信息
Mol Vis. 2010 Aug 25;16:1736-42.
PURPOSE
To analyze mitochondrial DNA (mt DNA) gene mutations in a 19-year-old female patient, who presented with chronic progressive external ophthalmoplegia (CPEO), together with her mother and younger sister.
METHODS
The diagnosis of mitochondrial myopathy was made based on clinical and biologic analysis. Histochemical methods were used to detect ragged-red fibers (RRFs) and ragged-blue fibers (RBFs) on a muscle biopsy of the patient. All mitochondrial gene DNA fragments of the patient, her mother, and younger sister were amplified by polymerase chain reaction. The products were sequenced and compared with reference databases.
RESULTS
A novel T1658C mutation and a known A10006G mutation were identified in the mitochondrial tRNA(Val) gene and the tRNA(Gly) gene, respectively, in the patient, her mother, and younger sister. The T1658C mutation changes the T loop structure of mitochondrial tRNA(Val) and the A10006G mutation disturbs the D loop of mitochondrial tRNA(Gly).
CONCLUSIONS
The T1658C and A10006G mutations of mtDNA may be responsible for the pathogenesis of the patient with CPEO.
目的
分析一名19岁患有慢性进行性眼外肌麻痹（CPEO）的女性患者及其母亲和妹妹的线粒体DNA（mtDNA）基因突变情况。
方法
基于临床和生物学分析做出线粒体肌病的诊断。采用组织化学方法在患者的肌肉活检中检测破碎红纤维（RRFs）和破碎蓝纤维（RBFs）。通过聚合酶链反应扩增患者、其母亲和妹妹的所有线粒体基因DNA片段。对产物进行测序并与参考数据库进行比较。
结果
在患者、其母亲和妹妹的线粒体tRNA(Val)基因和tRNA(Gly)基因中分别鉴定出一个新的T1658C突变和一个已知的A10006G突变。T1658C突变改变了线粒体tRNA(Val)的T环结构，A10006G突变扰乱了线粒体tRNA(Gly)的D环。
结论
mtDNA的T1658C和A10006G突变可能是该CPEO患者发病机制的原因。
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