Characteristics of patients with pathogenic mutations identified by MitoChip analysis
| Gene | Mutation | Gender/age at onset | Clinical symptoms | Brain MRI | Lactate | L/P | OH-but/Ac-Ac | Muscle histology | RC |
|---|---|---|---|---|---|---|---|---|---|
| MTRNR1 | m.1555A>G | 1<F<16 | CNS (dementia), Mu (SM), HCM, D | WM | ND | ND | ND | RRF, COX−, lipidosis | N (Mu) |
| M<1 | CNS (PMR), Mu (SM, H), IU-G, PN-G | N | ND | ↑ | ND | ND | ↓CI, CIII, CIV, CV (Mu, F) | ||
| 1<M<16 | OA, PN, PN-G | Cerebellar atrophy | ND | N | ND | ND | N (Mu) | ||
| MTTV | m.1644G>A | M>16 | CNS (E, S-l, dementia) | Cerebral atrophy | ND | ND | ND | COX− | ↓CIV (Mu) |
| MTTL1 | m.3303C>T | M<1 | Mu (H), HCM, L | N | ↑(B) | ↑ | N | Lipidosis | ↓CI+III (Mu) N (F) |
| MTND1 | m.3395A>G | F>16 | Mu (SM, myalgia, ptosis), HCM, D, DM | ND | ND | ND | ND | COX− | N (F) |
| m.3460A>G | M>16 | CNS (A), PN, Mu (ptosis), HCM, L, OA | Leigh | ND | N | ND | RRF, COX−, lipidosis | ↓CI (Mu) | |
| m.3890G>A | M<1 | CNS (PMR, E, A), Mu (PEO), L, OA | Leigh, thalamus lesions | ↑ (B, CSF) | ↑ | ND | Lipidosis | N (Mu) ↓CI, CIII, CIV (F) | |
| MTTI | m.4300A>G | F>16 | HCM | ND | ND | ND | ND | COX−, lipidosis | ND |
| m.4316A>G | F> 16 | Mu (SM, PEO) | ND | ND | ND | ND | RRF, COX− | ↓CIII+IV (Mu) | |
| m.4317 delA | M<1 | CNS (PMR, En, R, E) | N | ND | ND | ND | Lipidosis | ↓CIV (Mu) | |
| M>16 | Mu (ptosis) | ND | ND | ND | ND | RRF, COX− | ↓CIII (Mu) | ||
| MTTW | m.5521G>A | F>16 | CNS (PMR, A, E, MD, S-l), Mu (SM), eating disorder | Leukodystrophy, cerebellar atrophy | ↑ (B) | ↑ | N | RRF, COX−, lipidosis | ↓CI, CIV, ↓CII+III, CIII (Mu) |
| m.5540G>A | M>16 | CNS (A, dementia), Mu (SM), D | N | ND | ND | ND | RRF, COX−, lipidosis | ↓CIV (Mu) | |
| MTATP6 | m.9185T>C | F>16 | CNS (A) | ND | ND | ND | ND | N | N (Mu) |
| MTND5 | m.13513G>A | 1<M<16 | CNS (En, E, M-lH), PN, Mu (SM), HCM, PR, OA, D | Cerebellar atrophy, stroke-like | ND | ↑ | ND | Mitochondrial proliferation | ↓CI (Mu) |
| 1<M<16 | CNS (PMR, A), Mu (PEO), OA, IU-G, PN-G | ND | ND | ND | ND | ND | ND | ||
| MTND6 | m.14459G>A | F<1 | CNS (R) | Leigh | N (B) | ND | ND | ND | N (Mu), ↓CI (L), ↓CI+IV (F) |
| M<1 | CNS (PMR, Dys), Mu (ptosis) | Leigh | ↑ (B, CSF) | ND | ND | ND | ↓CI (Mu, F) | ||
| m.14487T>C | 1<M<16 | CNS (PMR, S-l, PS), Mu (ptosis) | Leigh | ↑ (CSF) | N | N | N | ↓CI (Mu) | |
| MTCYB | m.15234G>A | 1<M<16 | CNS (R, PMR, E, S-l, M-lH), Mu (PEO, SM), D, cataract | Leigh, Stroke-like, leukodystrophy, | ↑ (B, CSF) | ↑ | ↑ | RRF | ↓CI, CIII, CIV (M), N (F) |
↓, decreased; ↑, increased; B, blood; CI, II, III, IV, V, respiratory chain complexes; CNS, central nervous system (A, cerebellar ataxia; Dys, dystonia; E, epilepsy; En, encephalopathy; MD, movement disorders, M-l H, migraine-like headaches; PMR, psychomotor retardation; PS, pyramidal syndrome; R, regression; S-l, stroke-like episode); COX−, COX negative fibres; D, deafness; DM, diabetes mellitus; F, fibroblasts; HCM, hypertrophic cardiomyopathy; IU-G, intrauterine growth failure; L, liver involvement; L/P, lactate/pyruvate; Mu, muscle (H, hypotonia; PEO, progressive external ophthalmoplegia; SM, skeletal myopathy); N, normal; ND, not determined; OA, optic atrophy; OH-but/Ac-Ac, hydroxy-butyrate/aceto-acetate; PN, peripheral neuropathy; PN-G, postnatal growth failure; PR, pigmentary retinopathy; RC, respiratory chain; RRF, ragged red fibres; WM, white matter involvement.