Table 1.
TABLE 1. Types of mitochondrial disease caused by mitochondrial encoded genes.
| Mitochondrial defects - mitochondrial encoded (mtDNA) 60 | |||
| Disease | Coding | Mutation | Reference |
| Kearns Sayre Syndrome (KSS) | ND3, ND4, ND4L, ND5, COX3, ATP6, ATP8, tRNALeu, tRNASer, tRNAHis, tRNAArg, tRNAGly, tRNALys | Δ4977 (5 kb deletion) | 13,14 |
| Leigh Syndrome (LS) | ATP6 | m.8993T>C | 15 |
| m.9176T>G | 16 | ||
| ND3 | m.10158T>C | 17,18,19 | |
| ND4 | m.11777C>A | 20,15 | |
| ND5 | m.12706T>C | 22 | |
| ND6 | m.14459G>A | 23,24 | |
| m.14487T>C | 25,26 | ||
| Leber Hereditary Optic Neuropathy (LHON) | ND4 | m.11778G>A | 27 |
| ND1 | m.3460G>A | 28,29 | |
| ND6 | m.14484T>C | 30,31,32 | |
| Neurogenic Muscle Weakness, Ataxia and Retinitis Pigmentosa (NARP) | ATP6 | m.8993T>G | 33,34 |
| Mitochondrial Encephalomyopathy, Lactid Acidosis and Stroke-like Episodes (MELAS) | ND1 | m.3697C>A | 35 |
| ND5 | m.13513G>A | 36 | |
| m.13514A>G | 37 | ||
| tRNAPhe | m.583G>A | 38,39 | |
| tRNALeu (UUR) | m.3243A>G | 40 | |
| m.3256C>T | 41,42 | ||
| m.3271T>C | 43,44,45 | ||
| m.3291T>C | 46 | ||
| tRNAGln | m.4332G>A | 47 | |
| Myoclonic Epilepsy and Ragged Red Fiber Disease (MERRF) | tRNALys | m.8344A>G | 48,49 |
| m.8356T>C | 50,51,52 | ||
| m.8363G>A | 53 | ||
| Sensorineural Hearing Loss (SNHL) | tRNASer | m.7445A>G | 54 |
| m.7511T>C | 55 | ||
| Deafness (DEAF) | 12s rRNA | m.1494C>T | 56 |
| m.1555A>G | 57,58,59 | ||