Table 2.
Clinical, biochemical and molecular description of patients (P1 – P13).
| Patient (group) | Phenotype | Biochemical data | Genetic defect | ATPase (% of C) | SDH (% of C) | COX (% of C) | Ref. |
| P1 (M) | PMR, encephalomyopathy, spastic quadruparesis, microcephalia, | lactate: 1.0–3.4 3 MGA: <15 |
mt9205ΔTA | *80–120 | 120–200 | 80–120 | [19] |
| P2 (M) | transient lactic acidosis, nystagmus, GR | lactate: 3.9–10 | mt9205ΔTA | *80–120 | 80–120 | 80–120 | [20] |
| P3 (N2) | PMR, HCMP, hypotonia, peripheral neuropathy, | lactate: 1.4–10 3 MGA: 133–281 |
ncDNA, unknown | <30 | 120–200 | 120–200 | [21] |
| P4 (N1) | Fatal lactic acidosis, HCMP | lactate: 30–36 | ncDNA, unknown | <30 | 120–200 | 80–120 | [82] |
| P5 (N2) | PMR, HCMP, hypotonia, dysmorphy, microcephaly | lactate: 1.6–8 3 MGA: 22–225 |
ncDNA, unknown | <30 | >200 | >200 | [21] |
| P6 (N1) | PMR, HCMP, hypotonia, dysmorphy, microcephaly | lactate: 3.6–4.5 3 MGA: 28–260 |
ncDNA, unknown | <30 | >200 | >200 | NR |
| P7 (N1) | PMR, HCMP, hypotonia, dysmorphy, microcephaly, epilepsy | lactate: 2.2–6.0 3 MGA: 28–161 |
ncDNA, unknown | <30 | 80–120 | 120–200 | NR |
| P8 (N1) | PMR, hypotonia, dysmorphy, microcephaly | lactate: 3.6–6.7 3 MGA: 56–252 |
ncDNA, unknown | <30 | 120–200 | >200 | NR |
| P9 (N1) | PMR, hypotonia, dysmorphy, microcephaly | lactate: 2.2–10 3 MGA: 62–150 |
ncDNA, unknown | <30 | >200 | >200 | [21] |
| P10 (N1) | PMR, hypotonia, dysmorphy, microcephaly | lactate: 1.4–4.6 3 MGA: 64–270 |
ncDNA, unknown | <30 | 120–200 | 120–200 | NR |
| P11 (N2) | PMR, hypotonia, GR, HCMP dysmorphy, microcephaly | lactate: 1.5–8.2 3 MGA: 34–254 |
ncDNA, unknown | <10 | 80–120 | 80–120 | [21] |
| P12 (N2) | PMR, hypotonia, HCMP | lactate: 2–6.0 3 MGA: 115–460 |
ncDNA, unknown | <10 | 80–120 | 80–120 | [25] |
| P13 (N2) | PMR, GR, microcephaly, mild spasticity, hepatopathy | lactate: 1.2–3.9 3 MGA: 37–132 |
ncDNA, unknown | <30 | 120–200 | 120–200 | [21] |
Patient assignment to groups is based on DNA sequencing data (M) and results of PCA and hierarchical clustering (N1, N2). PMR – psychomotor retardation, HCMP – hypertrophic cardiomyopathy, GR – growth retardation, lactate – blood lactate (mmol/l), 3 MGA – 3-methylglutaconic aciduria (mg/g creatinine). ATPase (complex V), SDH (complex II) and COX (complex IV) represent enzyme protein content in fibroblast homogenates quantified by SDS PAGE/WB as in [19], using specific primary antibodies (MitoSciences, OR), Alexa Fluor® 680-labeled secondary antibodies and an Odyssey® Infrared Imaging System (LI-COR Biotechnology, Lincoln, NE). Data are presented as % of control values. * Decreased content of subunit a (ATP6). NR means not reported.