Abstract

According a recent report by Heidari et al., a mutational screening for candidate pathogenic mitochondrial tRNA (mt-tRNA) mutations were performed in 45 Iranian patients with non-dystrophic myotonia (NDM) and 70 control subjects. Through PCR amplification and direct sequence analysis, nine mt-tRNA mutations were identified: tRNA^Met T4454C, tRNA^Trp A5568G, tRNA^Cys T5794C, tRNA^Arg A10438T and T10462C, tRNA^Leu(CUN) A12308G, tRNA^Thr A15907G, A15924G and G15928A. However, through the database searches and phylogenetic conservation analysis, we noticed that the tRNA^Thr A15924G, G15928A and tRNA^Leu(CUN) A12308G mutations should be classified ‘pathogenic’. Thus, the roles of mt-tRNA mutations in clinical expression of NDM needed to be further experimentally addressed.

摘要

根据Heidari等人的最新报告，在45名伊朗非营养不良性肌强直性患者（NDM）和70名对照受试者中进行了候选病原体线粒体tRNA（mt-tRNA）突变的突变筛选。通过PCR扩增和直接序列分析，鉴定了9个mt-tRNA突变：tRNA ^Met T4454C，tRNA ^Trp A5568G，tRNA ^Cys T5794C，tRNA ^Arg A10438T和T10462C，tRNA ^Leu（CUN） A12308G，tRNA ^Thr A15907G，A15924G和G15928A。但是，通过数据库搜索和系统发育保守性分析，我们发现tRNA ^Thr A15924G，G15928A和tRNA ^Leu（CUN）A12308G突变应归类为“致病性”。因此，mt-tRNA突变在NDM临床表达中的作用需要进一步的实验研究。