|
| Gene | Mutation | Pathology |
|
| Gene 12S rRNA | 652insG | Gastric carcinoma [25] |
| A1555G | Dullness of hearing, induced by aminoglycosides and idiopathic hearing loss, sensibility to aminoglycoside antibiotics; deafness [26–28] |
|
| Gene tRNA-Leu (codon recognized UUR) | C3256T | MELAS, 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 dehydrogenase | T3336C,
a silencing mutation | Type 2 diabetes mellitus [29] |
|
| Gene of subunit 2 NADH dehydrogenase | C5178A causes a substitution of leucine for methionine | Acute myocardial infarction [30] |
|
| Gene tRNA-Leu (codon recognized CUN) | G12315A | Encephalopathy [31] |
|
| Gene of subunit 5 NADH dehydrogenase | G13513A | Li syndrome (hereditary encephalomyopathy), Wolff-Parkinson-White syndrome (preexcitation syndrome), and cardiomyopathy [7, 32] |
|
| Gene of subunit 6 NADH dehydrogenase | G14459A
(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 B | G14846A
(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] |
|
