TABLE 1.
Mitochondrial translation factor mutations and related diseases.
| Gene | Protein | Related disease/clinical presentation | References |
| (1) Mitochondrial translation initiation process | |||
| MTIF2 | MTIF2 | Pathological myocardial hypertrophy | Lee et al., 2019 |
| MTIF3 | MTIF3 | Parkinson’s disease | Behrouz et al., 2010 |
| Obesity | Abadi et al., 2016 | ||
| Cardiomyopathy | Rudler et al., 2019 | ||
| (2) Mitochondrial translation elongation process | |||
| TUFM | EFTU | Lactic acidosis and fatal encephalopathy | Cao and Qin, 2016 |
| Lung cancer, colorectal carcinoma | Shi et al., 2012; He et al., 2016; Xu et al., 2019 | ||
| Hyperlactatemia | Di Nottia et al., 2017 | ||
| Metabolic cardiomyopathy | Hershkovitz et al., 2019 | ||
| MELAS | Sasarman et al., 2008 | ||
| Myocardial ischemia and reperfusion | He et al., 2001 | ||
| Polycystic encephalopathy, micropolygyria | Valente et al., 2009 | ||
| TSFM | EF-TS | Early onset encephalocardiomyopathy | Emperador et al., 2016 |
| Mitochondrial cardiomyopathy | Perli et al., 2019 | ||
| Hypertrophic or dilated cardiomyopathy | Seo et al., 2019 | ||
| Encephalomyopathy and hypertrophic cardiomyopathy | Smeitink et al., 2006 | ||
| Infant liver failure | Vedrenne et al., 2012 | ||
| GFM1 | mtEF-G1 | Early onset Leigh syndrome | Valente et al., 2007 |
| MELAS | Ahola et al., 2014; Emperador et al., 2016 | ||
| GUF1 | mtEF4 | Cancer | Zhu et al., 2018 |
| Western syndrome | Alfaiz et al., 2016 | ||
| Male infertility | Gao et al., 2016 | ||
| Peripheral neuropathy, spastic paraparesis | Temperley et al., 2003 | ||
| Axonal neuropathy and optic atrophy | Tucci et al., 2014 | ||
| Distal motor neuropathy, optic atrophy | Fang et al., 2017b | ||
| Leigh syndrome | Imagawa et al., 2016 | ||
| Leigh syndrome, optic atrophy, ophthalmoplegia | Antonicka et al., 2010 | ||
| Classical Behr’s syndrome phenotype | Pyle et al., 2014 | ||
| Optic atrophy and mild developmental delays | Heidary et al., 2014 | ||
| Spastic paraplegia and strabismus | Buchert et al., 2013 | ||
| (3) Mitochondrial termination and ribosome recycling | |||
| MRRF | RRF | Parkinson’s disease | Wu et al., 2020 |
| GFM2 | EF-G2mt | Leigh syndrome with arthrogryposis multiplex congenital | Fukumura et al., 2015 |
| MTRFR | C12orf65 | Early onset optic atrophy, progressive encephalomyopathy | Fang et al., 2017a |
| (4) Mitochondrial translational activators and disease | |||
| LRPPRC | LRPPRC | French-Canadian Leigh syndrome | Kohler et al., 2015 |
| (5) Mitochondrial miRNA | |||
| miR-181c | Heart failure | Das et al., 2012, 2014 | |
| miR-1 | Myogenesis | Das et al., 2014 | |
| miR-92a | Diabetic cardiomyopathy | Li et al., 2019 | |
| miR-21 | Myocardial hypertrophy | Li et al., 2016 |