Tanno Y, Yoneda M, Tanaka K, Tsuji S
Department of Neurology, Niigata University.
Nihon Rinsho. 1993 Sep;51(9):2379-85.
Two mutations in tRNA(Lys) gene of mitochondrial DNA were detected as the causes of this disease. We reviewed our previous studies and the recent literatures. We analyzed the mtDNA nucleotide sequence of a MERRF patient, the original case of MERRF described by Fukuhara et al., and identified a point mutation of 8,344 in tRNA(Lys) gene. This mutation detected in all 8 MERRF patients from 6 independent families, and not detected in 15 controls by polymerase chain reaction using a mismatched primer. We also quantitated the degrees of heteroplasmy of the point mutation at nt 8,344 of tRNA(Lys) in various postmortem tissues from two patients with MERRF. The percentages of the mutant mtDNA were similar in both clinically affected and unaffected tissues.
线粒体DNA的tRNA（Lys）基因中的两个突变被检测为该疾病的病因。我们回顾了我们之前的研究和最近的文献。我们分析了一名肌阵挛性癫痫伴破碎红纤维病（MERRF）患者（Fukuhara等人描述的MERRF原始病例）的线粒体DNA核苷酸序列，并在tRNA（Lys）基因中鉴定出8344位点的点突变。通过使用错配引物的聚合酶链反应，在来自6个独立家族的所有8名MERRF患者中均检测到该突变，而在15名对照中未检测到。我们还对两名MERRF患者不同尸检组织中tRNA（Lys）的nt 8344位点的点突变的异质性程度进行了定量。突变型线粒体DNA的百分比在临床受影响和未受影响的组织中相似。
