Table 1.
The most frequent mitochondrial disorders, their mutations and symptoms associated with them.
| S.No | Mitochondrial Disorder | Mutations | Symptoms | Genotypic heterogeniety | Prevalence Rate | Reference |
|---|---|---|---|---|---|---|
| 1 | Leigh Syndrome | m.8993T > C; 10158T > C; m.10191T > C | Myoclonus, seizures, lesions and loss of mental efficacy and detrimental mobility, difficulty in breathing, kidney problems | MT-ND1; ND2; MT-ND3; , ND4; MT-ND5; MT-ND6; MT-ATP6; MT-TK; NDUFA2; NDUFA4; NDUFA9; NDUFA10; NDUFA12; NDUFS1; NDUFS2; NDUFS3; NDUFS4; NDUFS7; NDUFS8; NDUFAF2; NDUFAF5; NDUFAF6; NDUFV1; SURF1; SLC19A3; PNPT1; IARS2; NARS; ECHS1; VPS13D; NAXE; FOXRED1 of complex-I | 1/40,000 | Gerards et al. (2015); Khan et al. (2015); Tai (2016),Lee et al. (2020) |
| 2 | Pearson Syndrome | Moslty large mt-DNA deletions sporadic in nature, 4978-bp deletion | Asymptomatic. In some cases show vision loss and perversion of optic nerve cell. | tRNA gly (5' endpoint: nt 9991); tRNAthr (5' endpoint: nt 15888) | uncertain | Rotig et al. (1991); Davison et al. (2019); Pronman et al. (2019) |
| 3 | Myoclonic Epilepsy with Ragged Red Fibres (MERRF) | m.8344A > G; m.8356T > C; m.8363G > A m.5703G > A; m.3291T > C; m.4279A > G; | Myopathy, cerebellar Ataxia, dementia and Myoclonus. | tRNA(lys) gene (MT-TK); tRNA(Asn) gene (MT-TN); tRNA (Leu) gene (MT-TL1); tRNA (Ile) gene; tRNA (Phe) gene (MT-TF); tRNA (Pro) (MT-TP) | 0.25/100,00 In UK 95% rate in young ones |
Tai, 2016; Jarovsky et al. (2006); Fu et al., (2019); Finsterer and Zarrouk-Mahjoub (2017) |
| 4 | Leiber's Herediatry Optic Neuropathy (LHON) | m.3460G > A; m.11778G > A; m.14484T > C | Asymptomatic. In some cases show vision loss and perversion of optic nerve cell. | MT-ND1; MT-ND4; MT-ND4L; MT-ND6; MT-ND5; Cytochrome-b (MT-CYB); Cytochrome-c oxidase (MT-CO3); tRNA (threonine) (MT-TT); tRNA (Glutamic acid) (MT-TE) | 1/30,0000 | Tai (2016); Davison et al. (2019); Bahr et al. (2020) |
| 5 | Neurogenic Ataxia and Retinitis Pigmentosa (NARP) | Mt-8993T > G/C; c.1092+5G > A | Dementia, seizures, ataxia, sensory neuropathy and retinitis pigmentosa. | MT-ATP6; FLVCR1 gene | 1/2500-7000 | Bainbridge (2010); Claeys et al. (2016); Lemoine et al. (2017); Kuehlewein et al., (2019) |
| 6 | Chronic Progressive External Opthalamoparesis (CPEO) | 3243A > G | Dysfunction of extraocular muscles, ptosis and ocular myopathy. | POLG1, POLG2, ANT1, Twinkle, RRM2B, DNA2, SPG7, OPA1 | uncertain | Klopstock and Mancuso (2019) |
| 7 | Mitochondrial Encepahalopathy Lactic Acidosis and Strokes like episodes (MELAS) | m.3243A > G | Muscle pain, weakness, vision enigma, detrimental mobility and brain damage. | MT-TL1 | 16/100,000 | Jarovsky et al. (2006); Tai (2016); Bhatia et al. (2019) |