Table 2.
Enzymological testing results and disease predictions. Enzymology values for individual PMD patient cell lines as grouped based on the system effected. Disease prediction was assigned using Z scores, as described in the Materials and Methods. Abbreviations: CI–IV, respiratory chain complexes I–IV; CS, citrate synthase; Str, structural.
| Identifier # | Gene | System | Rates of Enzymes Activity and Ratios to CS | Z Scores | Disease prediction | |||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CS (nmol/min/mg) | CI (⎢nmol/min/mg⎢) | Rotenone sens (%) | CII (⎢nmol/min/mg⎢) | CIII (⎢/min/mg⎢) | CIV (⎢/min/mg⎢) | CI/CS | CII/CS | CIII/CS | CIV/CS | CS (nmol/min/mg) | CI (⎢nmol/min/mg⎢) | Rotenone sens (%) | CII (⎢nmol/min/mg⎢) | CIII (⎢/min/mg⎢) | CIV (⎢/min/mg⎢) | CI/CS | CII/CS | CIII/CS | CIV/CS | Sum (+ Z only) | ||||
| 45 | TMEM126B | Cl | 143 | 27 | 42 | 69 | 29 | 2.6 | 0.19 | 0.48 | 0.20 | 0.018 | 1.7 | 5.2 | 8.4 | 1.9 | −0.3 | 1.6 | 3.3 | 1.5 | −1.3 | 0.5 | 24.2 | Very likely |
| 30 | ACAD9 | 157 | 84 | 67 | 110 | 57 | 3.7 | 0.54 | 0.70 | 0.37 | 0.024 | 1.4 | 2.3 | 1.8 | 0.9 | −3.8 | 0.8 | 0.3 | −0.6 | −4.7 | −0.3 | 7.4 | Possible | |
| 33 | MT-ND1 | 139 | 25 | 39 | 86 | 28 | 4.5 | 0.18 | 0.62 | 0.20 | 0.032 | 1.7 | 5.3 | 9.1 | 1.5 | −0.1 | 0.3 | 3.4 | 0.2 | −1.1 | −1.6 | 21.5 | Very likely | |
| 48 | ND6 | 221 | 176 | 80 | 108 | 26 | 5.1 | 0.80 | 0.49 | 0.12 | 0.023 | 0.1 | −2.5 | −1.6 | 0.9 | 0.1 | −0.2 | −1.9 | 1.5 | 0.6 | −0.2 | 3.2 | Unlikely | |
| 2737 | NDUFS1 | 247 | 42 | 41 | 280 | 24 | 8.4 | 0.17 | 1.14 | 0.10 | 0.034 | −0.5 | 4.4 | 8.6 | −3.6 | 0.3 | −2.5 | 3.5 | -4.8 | 1.0 | −1.9 | 17.7 | Very likely | |
| 2736 | NDUFS2 | 265 | 10 | 20 | 133 | 29 | 3.5 | 0.04 | 0.51 | 0.11 | 0.014 | −0.8 | 6.1 | 14.2 | 0.2 | −0.2 | 1.0 | 4.6 | 1.3 | 0.8 | 1.3 | 29.4 | Very likely | |
| 2497 | NDUFA13 AND PGM1 | 191 | 41 | 59 | 99 | 23 | 3.2 | 0.22 | 0.52 | 0.12 | 0.017 | 0.7 | 4.5 | 3.8 | 1.1 | 0.5 | 1.2 | 3.1 | 1.1 | 0.5 | 0.8 | 17.4 | Very likely | |
| 52 | SURF1 | CIV | 175 | 138 | 75 | 105 | 31 | 0.3 | 0.78 | 0.60 | 0.17 | 0.002 | 1.0 | −0.5 | −0.4 | 1.0 | −0.5 | 3.3 | −1.8 | 0.4 | −0.6 | 3.1 | 8.8 | Likely |
| 55 | SURF1 | 192 | 141 | 77 | 132 | 24 | 0.3 | 0.73 | 0.69 | 0.12 | 0.001 | 0.7 | −0.7 | −0.8 | 0.3 | 0.4 | 3.3 | −1.4 | −0.5 | 0.5 | 3.2 | 8.3 | Likely | |
| 2264 | MT-ATP6 | CV | 252 | 114 | 75 | 127 | 33 | 3.7 | 0.45 | 0.51 | 0.13 | 0.015 | −0.6 | 0.7 | −0.3 | 0.4 | −0.8 | 0.9 | 1.1 | 1.3 | 0.3 | 1.1 | 5.7 | Unlikely |
| 47 | AGK | mtDNA | 285 | 52 | 44 | 33 | 20 | 1.8 | 0.18 | 0.12 | 0.07 | 0.006 | −1.2 | 3.9 | 7.9 | 2.8 | 0.9 | 2.2 | 3.4 | 5.1 | 1.6 | 2.4 | 30.1 | Very likely |
| 34 | EARS2 | 200 | 98 | 75 | 107 | 29 | 2.4 | 0.49 | 0.53 | 0.15 | 0.012 | 0.5 | 1.6 | −0.4 | 0.9 | −0.3 | 1.8 | 0.7 | 1.0 | 0.0 | 1.5 | 8.0 | Possible | |
| 43 | MRPL44 | 186 | 88 | 68 | 101 | 25 | 1.6 | 0.47 | 0.54 | 0.13 | 0.009 | 0.8 | 2.1 | 1.5 | 1.1 | 0.3 | 2.4 | 0.9 | 0.9 | 0.2 | 2.0 | 12.1 | Very likely | |
| 42 | Large mtDNA deletion | 177 | 121 | 74 | 120 | 24 | 7.1 | 0.68 | 0.68 | 0.14 | 0.040 | 1.0 | 0.4 | −0.2 | 0.6 | 0.4 | −1.6 | −0.9 | −0.4 | 0.2 | −2.9 | 2.5 | Unlikely | |
| 41 | Large mtDNA deletion | 280 | 162 | 79 | 161 | 37 | 8.1 | 0.58 | 0.57 | 0.13 | 0.029 | −1.1 | −1.8 | −1.4 | −0.5 | −1.2 | −2.3 | 0.0 | 0.6 | 0.3 | −1.1 | 0.9 | Unlikely | |
| 50 | MT-TD | 215 | 83 | 65 | 143 | 32 | 2.4 | 0.39 | 0.67 | 0.15 | 0.011 | 0.2 | 2.3 | 2.2 | 0.0 | −0.6 | 1.8 | 1.6 | −0.3 | −0.1 | 1.6 | 9.7 | Likely | |
| 36 | MT-TE | 241 | 136 | 72 | 172 | 40 | 4.8 | 0.56 | 0.71 | 0.16 | 0.020 | −0.4 | −0.4 | 0.4 | −0.8 | −1.6 | 0.1 | 0.1 | −0.7 | −0.4 | 0.3 | 0.8 | Unlikely | |
| 57 | MT-TE | 249 | 107 | 71 | 85 | 25 | 2.7 | 0.43 | 0.34 | 0.10 | 0.011 | −0.5 | 1.1 | 0.7 | 1.5 | 0.2 | 1.6 | 1.3 | 2.9 | 0.9 | 1.7 | 11.8 | Very likely | |
| 58 | MT-TL1 | 300 | 142 | 76 | 147 | 22 | 3.0 | 0.47 | 0.49 | 0.07 | 0.010 | −1.5 | −0.7 | −0.5 | −0.1 | 0.6 | 1.4 | 0.9 | 1.4 | 1.5 | 1.8 | 7.7 | Possible | |
| 123 | MT-TL1 | 160 | 74 | 61 | 136 | 15 | 7.8 | 0.46 | 0.85 | 0.10 | 0.049 | 1.3 | 2.8 | 3.3 | 0.2 | 1.4 | −2.1 | 1.0 | −2.1 | 1.0 | −4.2 | 11.0 | Likely | |
| 53 | MT-TL1 | 115 | 76 | 65 | 143 | 25 | 3.0 | 0.66 | 1.24 | 0.22 | 0.026 | 2.2 | 2.7 | 2.2 | 0.0 | 0.2 | 1.4 | −0.7 | −5.8 | −1.6 | −0.7 | 8.7 | Possible | |
| 54 | MT-TL1 | 216 | 9 | 16 | 119 | 8 | 1.7 | 0.04 | 0.55 | 0.04 | 0.008 | 0.2 | 6.2 | 15.3 | 0.6 | 2.4 | 2.3 | 4.6 | 0.8 | 2.3 | 2.1 | 36.7 | Very likely | |
| 72 | MT-TL1 | 392 | 163 | 70 | 208 | 28 | 5.6 | 0.42 | 0.53 | 0.07 | 0.014 | −3.4 | −1.8 | 0.9 | −1.7 | −0.1 | −0.5 | 1.4 | 1.0 | 1.5 | 1.2 | 6.0 | Unlikely | |
| 40 | MT-TL1 | 286 | 70 | 60 | 93 | 29 | 2.8 | 0.24 | 0.32 | 0.10 | 0.010 | −1.3 | 3.0 | 3.6 | 1.3 | −0.2 | 1.5 | 2.9 | 3.0 | 0.9 | 1.9 | 18.1 | Very likely | |
| 51 | MT-TN | 179 | 90 | 70 | 100 | 20 | 1.9 | 0.50 | 0.56 | 0.11 | 0.010 | 0.9 | 2.0 | 1.0 | 1.1 | 0.9 | 2.2 | 0.6 | 0.8 | 0.7 | 1.8 | 12.0 | Very likely | |
| 124 | TWNK | 214 | 94 | 73 | 94 | 24 | 1.3 | 0.44 | 0.44 | 0.11 | 0.006 | 0.2 | 1.7 | 0.1 | 1.3 | 0.4 | 2.6 | 1.2 | 2.0 | 0.7 | 2.4 | 12.5 | Very likely | |
| 35 | POLG | 176 | 144 | 73 | 112 | 46 | 3.9 | 0.82 | 0.64 | 0.26 | 0.022 | 1.0 | −0.8 | 0.2 | 0.8 | −2.4 | 0.7 | −2.1 | 0.0 | −2.5 | −0.1 | 2.7 | Unlikely | |
| 38 | POLG | 191 | 123 | 84 | 110 | 19 | 4.6 | 0.64 | 0.58 | 0.10 | 0.024 | 0.7 | 0.2 | −2.6 | 0.8 | 1.0 | 0.2 | −0.6 | 0.6 | 0.9 | −0.4 | 4.5 | Unlikely | |
| 120 | POLG | 120 | 83 | 67 | 97 | 20 | 5.0 | 0.69 | 0.80 | 0.17 | 0.041 | 2.1 | 2.3 | 1.8 | 1.2 | 0.8 | -0.1 | −1.0 | −1.6 | −0.5 | −3.1 | 8.3 | Possible | |
| 59 | ATAD3 | Str | 156 | 101 | 67 | 109 | 26 | 3.6 | 0.66 | 0.71 | 0.18 | 0.023 | 1.4 | 1.4 | 1.7 | 0.9 | 0.1 | 0.9 | −0.7 | −0.7 | −0.8 | −0.3 | 6.5 | Unlikely |
| 2130 | PDHA1 | TCA cycle | 205 | 118 | 70 | 147 | 30 | 3.4 | 0.58 | 0.73 | 0.15 | 0.019 | 0.4 | 0.5 | 1.1 | -0.1 | -0.4 | 1.1 | 0.0 | −0.9 | 0.0 | 0.5 | 3.6 | Unlikely |
| 31 | PDHA1 | 147 | 85 | 71 | 111 | 26 | 2.3 | 0.58 | 0.75 | 0.18 | 0.016 | 1.6 | 2.2 | 0.7 | 0.8 | 0.2 | 1.8 | 0.0 | −1.1 | −0.6 | 0.9 | 8.2 | Possible | |
| 128 | SLC25A42 | 369 | 225 | 76 | 219 | 18 | 5.0 | 0.61 | 0.59 | 0.05 | 0.013 | −3.0 | −5.0 | −0.7 | −2.0 | 1.1 | −0.1 | −0.3 | 0.4 | 2.0 | 1.3 | 4.8 | Possible | |
| 2738 | SLC25A42 | 128 | 132 | 76 | 149 | 19 | 4.9 | 1.03 | 1.16 | 0.15 | 0.038 | 2.0 | −0.2 | −0.7 | −0.2 | 1.0 | 0.0 | −3.9 | −5.1 | 0.0 | −2.6 | 3.0 | Unlikely | |
| Median (+Z only) | Controls | 224 | 128 | 74 | 143 | 27 | 4.9 | 0.58 | 0.64 | 0.14 | 0.022 | 0.4 | 0.4 | 0.4 | 0.4 | 0.4 | 0.4 | 0.3 | 0.3 | 0.6 | 0.3 | 4.1 | 100% unlikely | |
| Min | 129 | 100 | 67 | 86 | 15 | 3.1 | 0.42 | 0.52 | 0.06 | 0.014 | −1.9 | −1.7 | −1.7 | −1.4 | −2.0 | −2.0 | −2.3 | −2.2 | −1.0 | −1.9 | 0.3 | |||
| Max | 318 | 160 | 80 | 195 | 43 | 7.6 | 0.84 | 0.87 | 0.19 | 0.034 | 1.9 | 1.4 | 1.7 | 1.5 | 1.5 | 1.3 | 1.4 | 1.2 | 1.8 | 1.2 | 6.1 | |||
| 1/4 percentile | 184 | 109 | 72 | 113 | 21 | 3.6 | 0.51 | 0.59 | 0.08 | 0.018 | −0.6 | −0.7 | −0.9 | −1.0 | −0.5 | −0.7 | −0.8 | −1.0 | −0.5 | −0.9 | 2.3 | |||
| 3/4 percentile | 253 | 142 | 77 | 182 | 31 | 5.9 | 0.67 | 0.74 | 0.17 | 0.027 | 0.8 | 1.0 | 0.6 | 0.8 | 0.8 | 0.9 | 0.6 | 0.5 | 1.3 | 0.6 | 5.6 | |||
| n | 12 | 12 | 12 | 11 | 12 | 12 | 12 | 11 | 12 | 12 | 12 | 12 | 12 | 11 | 12 | 12 | 12 | 11 | 12 | 12 | 12 | |||
| % Coefficient of variation | 22 | 15 | 5 | 27 | 30 | 28 | 20 | 16 | 33 | 30 | ||||||||||||||
| Shapiro-Wilk test (p=) | 0.98 | 0.95 | 0.98 | 0.89 | 0.96 | 0.94 | 0.96 | 0.95 | 0.91 | 0.95 | ||||||||||||||
| Kolmogorov-Smirnov test (p=) | >0.1 | >0.1 | >0.1 | >0.1 | >0.1 | >0.1 | >0.1 | >0.1 | >0.1 | >0.1 | ||||||||||||||