Table 1.
Diseases resulting from mutations of genes coding for tRNAs and proteins
| mtDNA mutations in the tRNALeu gene | ||
|---|---|---|
| Mutation | Phenotype | |
| A3243G | MEALS | |
| MEALS/MERRF | ||
| PEO | ||
| KSS | ||
| Myopathy | ||
| A3243T | Encephalomyopathy | |
| T3250C | Myopathy with respiratory Failure | |
| A3251G | PEO, myopathy | |
| A3252G | Dementia, diabetes | |
| C3254G | Myopathy, cardiomyopathy | |
| C3256T | PEO, deafness | |
| A3260G | Myopathy, cardiomyopathy | |
| T3271C | MEALS | |
| A3288G | Myopathy | |
| T3291C | MEALS | |
| A3302G | Myopathy with respiratory failure | |
| C3303T | Cardiomyopathy | |
| mtDNA mutation in the tRNALys gene | ||
| Mutation | Phenotype | |
| A8344G | MERRF | |
| MELAS/MERRF | ||
| PEO | ||
| Myopathy | ||
| Leigh’s syndrome | ||
| G8313A | Gastrointestinal dysfunction, dementia, ataxia, deafness, axonal neuropathy | |
| G8328A | Encephalopathy | |
| G8342A | PEO | |
| T8356C | MERRF | |
| G8363A | MERRF | |
| Cardiomyopathy, deafness, ataxia | ||
| A8296G | Hypertrophic cardiomyopathy | |
| mtDNA mutations in other tRNA genes | ||
| Gene | Mutation | Phenotype |
| tRNAPhe | A583G | MELAS |
| tRNAVal | G1606A | Ataxia, dementia, deafness |
| G1642A | MELAS | |
| tRNAIle | A4269G | Encephalopathy |
| T4274C | PEO | |
| T4285C | PEO | |
| A4295G | Cardiomyopathy | |
| tRNATrp | 5537T insert | Ataxia. Leigh’s syndrome |
| G5540A | Ataxia, deafness | |
| tRNAAsp | A5692G | Ataxia |
| G5703A | PEO | |
| tRNACys | A5814G | MELAS |
| tRNASer | 7472C insert | Deafness, ataxia |
| T7512C | MERRF/MELAS | |
| tRNAAsp | G7543A | Infantile encephalopathy |
| tRNAGlu | T14709C | Myopathy and diabetes |
| Mitochondrial oxidative phosphorylation diseases resulting from nuclear gene mutations | ||
| Gene encoding protein respiratory components | Phenotype | |
| Complex I NDUFS1 | Leigh syndrome | |
| Complex I NDUFS2 | Cardiomyopathy- Encephalomyopathy | |
| Complex I NDUFS4 | Leigh syndrome | |
| Complex I NDUFS7 | Leigh syndrome | |
| Complex I NDUFS8 | Leigh syndrome | |
| Complex I NDUFV1 | Leigh syndrome | |
| Complex II SDHA | Leigh syndrome | |
| Complex IV SURF1 | Leigh syndrome | |
| Nuclear genetic disorders of the mitochondrial respiratory chain due to mutations in translation factors: | ||
| Gene | Phenotype/Disease | |
| EFG1 | Leigh syndrome | |
| MRPS16 | Lactic acidosis, dysmophism | |
| EFTu | Leukodystrophy and polymicrogyria | |
| PUS1 | Myopathy and sideroblastic anemia | |
| Nuclear genetic disorders associated with multiple mtDNA deletions or mtDNA depletion: | ||
| Gene | Phenotype/Disease | |
| POLG, POLG2, | Autosomal progressive external ophthalmoplegia | |
| PEO1 and SLC25A4 | ||
| TP | Mitochondrial neurogastrointestinal encephalomyopathy (thymidine phosphorylase deficiency) | |
| POLG and MPV | Alpers–Huttenlocher syndrome | |
| DGUOK | Encephalomyopathy and liver failure | |