Yu Xue-Jiao, Ding Yu
Department of Clinical Laboratory, Quzhou People's Hospital, Quzhou, China.
Central Laboratory, Hangzhou First People's Hospital, Zhejiang University School of Medicine, Hangzhou, China.
Mitochondrial DNA B Resour. 2020 Nov 20;5(3):3796-3801. doi: 10.1080/23802359.2020.1839364.
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 T4454C, tRNA A5568G, tRNA T5794C, tRNA A10438T and T10462C, tRNA A12308G, tRNA A15907G, A15924G and G15928A. However, through the database searches and phylogenetic conservation analysis, we noticed that the tRNA A15924G, G15928A and tRNA A12308G mutations should be classified 'pathogenic'. Thus, the roles of mt-tRNA mutations in clinical expression of NDM needed to be further experimentally addressed.
根据海达里等人最近的一份报告，对45名患有非营养不良性肌强直（NDM）的伊朗患者和70名对照受试者进行了候选致病性线粒体tRNA（mt-tRNA）突变的突变筛查。通过聚合酶链反应（PCR）扩增和直接序列分析，鉴定出9种mt-tRNA突变：tRNA T4454C、tRNA A5568G、tRNA T5794C、tRNA A10438T和T10462C、tRNA A12308G、tRNA A15907G、A15924G和G15928A。然而，通过数据库搜索和系统发育保守性分析，我们注意到tRNA A15924G、G15928A和tRNA A12308G突变应归类为“致病性”。因此，mt-tRNA突变在NDM临床表型中的作用需要进一步通过实验来探讨。
