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. 2020 Nov 20;5(3):3796-3801.
doi: 10.1080/23802359.2020.1839364.

The roles of mitochondrial tRNA mutations in non-dystrophic myotonias

Xue-Jiao Yu  1 , Yu Ding  2
Affiliations

The roles of mitochondrial tRNA mutations in non-dystrophic myotonias

Xue-Jiao Yu et al. Mitochondrial DNA B Resour. .

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: tRNAMet T4454C, tRNATrp A5568G, tRNACys T5794C, tRNAArg A10438T and T10462C, tRNALeu(CUN) A12308G, tRNAThr A15907G, A15924G and G15928A. However, through the database searches and phylogenetic conservation analysis, we noticed that the tRNAThr A15924G, G15928A and tRNALeu(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.

Keywords: NDM; mt-tRNA mutations; pathogenic; phylogenetic analysis.

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Conflict of interest statement

No potential conflict of interest was reported by the author(s).

Figures

Figure 1.
Figure 1.
The secondary structure of nine mt-tRNA mutations, arrow indicated the mutation positions.
Figure 2.
Figure 2.
Sequence alignment of mt-tRNALeu(CUN) gene from 15 different species, arrow indicated the position 44, corresponding to the A12308G mutation.
See this image and copyright information in PMC

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