Table 6: Data on the pathologies, caused by the investigated mutations.

GeneMutationPathology

Gene 12S rRNA652insGGastric carcinoma [25]
A1555GDullness of hearing, induced by aminoglycosides and idiopathic hearing loss, sensibility to aminoglycoside antibiotics; deafness [2628]

Gene tRNA-Leu (codon recognized UUR)C3256TMELAS, encephalopathy, lactic acidosis, myopathy, cardiomyopathy, stroke-like lesion in the right parietooccipital brain region, and oxidative defect of muscular metabolism [8]

Gene of subunit 1 NADH dehydrogenaseT3336C,
a silencing mutation
Type 2 diabetes mellitus [29]

Gene of subunit 2 NADH dehydrogenaseC5178A causes a substitution of leucine for methionineAcute myocardial infarction [30]

Gene tRNA-Leu (codon recognized CUN)G12315AEncephalopathy [31]

Gene of subunit 5 NADH dehydrogenaseG13513ALi syndrome (hereditary encephalomyopathy), Wolff-Parkinson-White syndrome (preexcitation syndrome), and cardiomyopathy [7, 32]

Gene of subunit 6 NADH dehydrogenaseG14459A
(a substitution of alanine for valine in the seventy-second amino acid position, which is located in the most conservative region of protein ND6)
Hereditary Leber’s optic atrophy. Associated with dysfunction of basal ganglia, muscular spasticity, and encephalopathy [33, 34]

Gene of cytochrome BG14846A
(a substitution of glycine for serine in position 34 (G34S) that weakens enzymatic function of cytochrome B)
Mitochondrial myopathies [35]
G15059A
(a nonsense mutation, as the result of which amino acid glycine in position 190 is substituted for a terminating codon, causing a stopping in translation, protein size reduction, and a loss of 244 amino acids from C-terminus of a protein). The mutation weakens enzyme function of cytochrome B.
Mitochondrial myopathies [35]