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Sulaiman et al. J Transl Genet Genom 2020;4:159-87 I https://doi.org/10.20517/jtgg.2020.27 Page 163

Table 1. Summary of the most common mtDNA mutations in primary and secondary mitochondrial diseases
Syndrome Locus Disease Allele Nt change AA change Ho He Ref.
Primary mitochondrial disease
Leigh syndrome/dystonia
Leigh syndrome MTATP6 LS/NARP T8993C T-C L156P - + [48]
Leigh syndrome MTATP6 NARP T8993G T-G L156R - + [49,50]
Leigh syndrome MTATP6 LS T9176G T-G L217R + + [51]
Leigh syndrome MTATP6 LS/FBSN T9176C T-C L217P + + [52,53]
Leigh syndrome MTATP6 LS/ataxia/NARP-like T9185C T-C L220P + + [54]
disease
Leigh syndrome MTATP6 LS T9191C T-C L222P - + [54]
Leigh syndrome MTCO3 LS-like C9537insC C-CC Q111 frameshift + - [55]
Leigh syndrome MTND3 LS T10158C T-C S34P + + [22,56,57]
Leigh syndrome MTND3 LS/LS-like disease/ T10191C T-C S45P - + [58]
ESOC
Leigh syndrome MTND3 LS/dystonia/stroke G10197A G-A A-T + + [59,60]
Leigh syndrome MTND4 LS C11777A C-A R340S - + [61,62]
Leigh syndrome MTND5 LS T12706C T-C F124L - + [63]
Dystonia MTND1 Adult-onset dystonia A3796G A-G T164A - + [64]
Dystonia/Leigh syndrome MTND6 LDYT/LS G14459A G-A A72V + + [65,66]
Dystonia/Leigh syndrome MTND6 LS/dystonia/Ataxia T14487C T-C M63V - + [67,68]
Leber hereditary optic neuropathy (LHON)
Leber hereditary optic neuropathy ND1 LHON G3460A G-A A52T - + [69,70]
Leber hereditary optic neuropathy ND4 LHON G11778A G-A R340H - + [71]
Leber hereditary optic neuropathy ND6 LHON T14484C T-C M64V - + [69,72,73]
Encephalomyopathy
Encephalomyopathy, MELAS MTND1 MELAS T3308C T-C M1T - + [74]
Encephalomyopathy, MELAS MTND1 MELAS/LHON G3376A G-A E24K - + [75]
Encephalomyopathy, MELAS MTND1 MELAS G3697A G-A G131S - + [60]
Encephalomyopathy, MELAS MTND1 MELAS G3946A G-A E214K + + [60]
Encephalomyopathy, MELAS MTND1 MELAS T3949C T-C Y215H - + [60]
Encephalomyopathy, MELAS MTND4 MELAS A11084G A-G T109A + + [76,77]
Encephalomyopathy, MELAS MTND5 MELAS A12770G A-G E145G - + [78]
Encephalomyopathy, MELAS MTND5 MELAS/LHON/LS A13045C A-C M237L - + [78]
overlap syndrome
Encephalomyopathy, MELAS MTND5 MELAS/LS A13084T A-T S250C - + [79]
Encephalomyopathy, MELAS MTND5 MELAS/LS G13513A G-A D393N - + [80]
Encephalomyopathy, MELAS MTND5 MELAS A13514G A-G D393G - + [81]
Encephalomyopathy, MELAS MTND6 MELAS G14453A G-A A74V - + [82]
Encephalomyopathy, MELAS MTCYB MELAS/PD 14787del4 TTAA-del I14frameshift - + [83]
Encephalomyopathy, MELAS MTTL1 MELAS A3243G A-G tRNA Leu (UUR) - + [84]
Encephalomyopathy, epilepsy MTCO1 Therapy-resistant C6489A C-A L196I - + [85]
epilepsy
Encephalomyopathy, multisystem disorder MTCO1 Multisystem disorder G6930A G-A G343Ter - + [86]
Encephalomyopathy, multisystem disorder MTCOI Myopathy and cortical 6015del5 Del 5 bp Frameshift, 42 + [87]
lesions peptide
Encephalomyopathy MTCO2 Encephalomyopathy T7587C T-C M1T - + [88]
Encephalomyopathy, multisystem disorder MTCO2 Multisystem disorder G7896A G-A W104Ter - + [89]
Encephalomyopathy, lactic acidosis MTCO2 Lactic acidosis 8042del2 AT-del M153Ter - + [90]
Encephalomyopathy MTCO3 Encephalomyopathy G9952A G-A W248Ter - + [91]
Encephalomyopathy, MELAS MTCO3 MELAS/PEM/NAION T9957C T-C F251L - + [92]
Encephalomyopathy, lactic acidosis MTATP6 Lactic acidosis/seizures 9205del2 TA-del Ter227M + - [93]
Encephalomyopathy, multisystem disorder MTCYB Multisystem disorder A15579G A-G Y278C - + [94]
Encephalomyopathy, septo-optic dysplasia MTCYB Septo-optic dysplasia T14849C T-C S35P - + [95]
Mitochondrial myopathy
MM, exercise intolerance MTCYB EXIT G14846A G-A G34S - + [86]
MM MTCYB MM G15059A G-A G190Ter - + [96]
MM, exercise intolerance MTCYB EXIT G15084A G-A W113Ter - + [86]
MM, exercise intolerance MTCYB EXIT G15150A G-A W135Ter - + [97]
MM, exercise intolerance MTCYB EXIT G15168A G-A W141Ter - + [86]
MM, exercise intolerance MTCYB EXIT T15197C T-C S151P - + [97]
MM, exercise intolerance MTCYB EXIT/ G15242A G-A G166Ter - + [98]
encephalomyopathy