The roles of mitochondrial tRNA mutations in non-dystrophic myotonias

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.