Table 2.
Lab findings of twenty five patients with SUCLG1 mutations
| SCS activity | ETC activity | mtDNA copy# | Respiration analysis |
SUCLG1 levels by WB |
SUCLG2 levels by WB |
SUCLA2 levels by WB |
|
|---|---|---|---|---|---|---|---|
| P1 | NA | Abnormal in mu | 15% of controls(mu) | NA | Abscent(fb) | NA | NA |
| P2 | NA | Abnormal in Liver | 15% of controls in Liver | NA | Abscent(fb) | NA | NA |
| P3 | NA | NA | NA | NA | NA | NA | NA |
| P4 | NA | Very mildly reduced | Decreased(mu) by southern blot | Mildly reduced | Severely reduced(fb) | NA | NA |
| P5 | NA | Reduced(mu) | 7–10% of controls(mu) | NA | NA | NA | NA |
| P6 | NA | Reduced(mu) | 7–10% of controls(mu) | NA | NA | NA | NA |
| P7 | NA | Reduced (mu & fb) | 11% of controls(mu) | NA | Abscent(fb) | NA | Abscent(fb) |
| P8 | NA | Reduced (mu & fb) | 18% of controls(mu) | NA | Reduced(fb) | NA | Reduced(fb) |
| P9 | NA | Reduced(mu) | 48% of controls(mu) | Reduced(mu) | NA | NA | NA |
| P10 | NA | Reduced(mu) | 25% of controls(mu) | Reduced(mu) | NA | NA | NA |
| P11 | NA | NA | 128% of controls(mu) | NA | NA | NA | NA |
| P12 | Deficient | NA | 50% of controls in Liver | NA | Severely reduced | NA | NA |
| P13 | NA | severe C IV and II+III deficiencies | 18% of controls(mu) | NA | NA | NA | NA |
| P14 | NA | Reduced(fb & mu) | No change (fb) & doubled (mu) | NA | NA | NA | NA |
| P15 | NA | NA | NA | NA | NA | NA | NA |
| P16 | NA | Severely reduced(mu) | 27% of controls(mu) | NA | NA | NA | NA |
| P17 | NA | Reduced CV (leu) | 90% of controls(leu) | NA | NA | NA | NA |
| P18 | NA | Reduced CI (leu) | 75% of controls(leu) | NA | NA | NA | NA |
| P19 | NA | Reduced CI (leu) | 68% of controls(leu) | NA | NA | NA | NA |
| P20 | NA | Normal | NA | NA | NA | NA | NA |
| P21 | NA | Mildly reduced CI &CIV | NA | NA | NA | NA | NA |
| P22 | NA | NA | NA | NA | NA | NA | NA |
| P23 | NA | Severely reduced CI &CIV | NA | NA | NA | NA | NA |
| P24 | NA | Normal | NA | NA | NA | NA | NA |
| P25 | Severly reduced | NA | 72% of control(mu) & 50% of control (fb) |
Reduced(fb) | Absent(fb) | Abscent(fb) | Reduced(fb) |
Abbreviations are as follows: NA, not available; SCS, succinylcoA-synthetase; ETC, electron transport chain; mu, muscle; fb, fibroblasts; leu, leukocytes