Table 3.
Animal and cell models of diseases associated with mtDNA mutations.
| Model Type | Disease | mtDNA Mutation | Approach | References |
|---|---|---|---|---|
| Cybrid cells | MELAS | m.3243A > G (MT-TL1) | Transmitochondrial technique | [48,49,101,103] |
| m.3271T > C (MT-TL1) | ||||
| m.14484T > C (MT-ND6) | [104] | |||
| m.3460G >A (MT-ND1) | ||||
| m.11778G > A (MT-ND4) | ||||
| Leigh syndrome NARP |
m.8993T > G (MT-ATP6) | [105,106] | ||
| MERRF | m.8344A > G (MT-TK) | [107] | ||
| m.8356T > C (MT-TK) | ||||
| Hodgkin’s lymphoma | m.1555A > G (MT-RNR1) | [90] | ||
| Atherosclerosis | m.13513G > A (MT-ND5) m.12315G > A (MT-TL2) m.3256C > T (MT-TL1) m.15059G > A (MT-CYB) m.14846G > A (MT-CYB) m.1555G > A (MT-RNR1) |
[86,100,108] | ||
| Induced pluripotent stem cells | MELAS | m.3243A > G (MT-TL1) | Isolation of fibroblasts or PBMCs from patients | [118,119] |
| Leigh syndrome | m.9185T > C (MT-ATP6) | [120] | ||
| m.13513G > A (MT-ND5) | [71] | |||
| LHON | m.11778G > A (MT-ND4) | [121,122,123] | ||
| m.4160T > C (MT-ND1) | [124] | |||
| m.14484T > C (MT-ND6) | ||||
| Drosophila melanogaster (fly) | Leigh syndrome MELAS |
mt:CoIT300I and mt:CoIR301S (MT-COI) | MitoRE | [125,126] |
| mt:ND2Ins1 and mt:ND2Del1 (MT-ND2) | ||||
| Danio rerio (zebrafish) | MERRF-like syndrome Cardiomyopathy Leigh syndrome |
m.8363G > A (MT-TK) | DdCBE | [143] |
| LHON | m.3733G > A (MT-ND1) | |||
| Leigh syndrome MELAS |
m.13513G > A (MT-ND5) | |||
| CPEO | m.12276G > A (MT-TL1) | |||
| LHON | m.3376G > A (MT-ND1) | |||
| Leber optic atrophy Lactic acidosis Encephalopathy Myopathy |
zebrafish m.7106C > T (MT-CO1) | FusXTBE | [153] | |
| zebrafish m.10215C > T (MT-CO3) | ||||
| MELAS | zebrafish m.3744G > A (MT-TL1) | |||
| Mouse C57BL/6J (mito-mice) |
Polycystic ovary syn-drome with insulin resistance Childhood mitochondrial myopathy Encephalomyopathy MELAS |
m.2748A > G (human m.3302A > G) (MT-TL1) | Transmitochondrial technique | [109,114] |
| m.6589T > C (MT-COI) | ||||
| Diabetes development Lymphoma formation and metastasis |
m.13997G > A (MT-ND6) | [115] | ||
| MERRF | m.7731G > A (human m.8328G > A) (MT-TK) | [116] | ||
| Leigh disease MELAS LHON syndrome LHON/MELAS overlap syndrome |
m.12918G > A (human m.13513G > A) (MT-ND5) | DdCBE DdCBE-NES Simultaneous use of DdCBE and mitoTALEN |
[2,152] | |
| m.12336C > T (MT-ND5) | DdCBE | [2] | ||
| Rat (Sprague Dawley) |
MELAS Cardiomyopathy Leigh syndrome |
m.7755G > A (human m.8363G > A) (MT-TK) | DdCBE | [148] |
| Mitochondrial myopathy | m.14098G > A (human m.14710G > A) (MT-TE) |