Patient/cells* | Clinical phenotype | Biochemical studies (% with respect to mean reference values) | Effect of CoQ10 supplementation† | Reference as cited in the text | Array and epigenetic code |
---|---|---|---|---|---|
Human dermal skin fibroblast | Healthy volunteers | Reference values | Reference values | 12 | #2 #HDF #control |
12-year-old girl |
|
|
| 4 | #1 |
33-month-old boy(his sister below) |
|
|
| 5 17 12 case 3 | #3 |
9-month-old girl(her brother above) |
|
|
| 17 12 case 4 | #5 |
Boy |
|
|
| 8 | #4 #MEL+Q |
10-day-old boy |
|
|
| 34 | #ELO #ELO+Q |
3-year-old boy |
|
|
| 18 | #GIO |
Girl |
|
|
| This paper | #SIL+Q#epi |
Girl |
|
|
| 12 case 1 | #SOF+Q#epi |
*Cultured at 37°C using DMEM 1 g/l glucose, l-glutamine, pyruvate (Invitrogen) plus antibiotic/antimycotic solution (Sigma) and 20% fetal bovine serum (FBS, Linus).
†CoQ10 prediluted in FBS was added to the plates at a final concentration of 30 µM (coenzyme Q10, Synthetic Minimum 98%, high-performance liquid chromatography, Sigma).
CoQ10, Coenzyme Q10; MELAS, mitochondrial encephalopathy, lactic acidosis and stroke-like episodes; mtDNA, mitochondrial DNA; mt-RC, mitochondrial respiratory chain; ROS, reactive oxygen species.