Table 1.
Fibroblast cell lines from patients with mitochondrial disease, including primary CoQ10 deficiency.
| Case [ref] | diagnosis | DNA mutation | variants, heteroplasmy ratea | function |
|---|---|---|---|---|
| 1 | primary CoQ10 deficiency | COQ2 | c.[349G > C];[912 + 1G > del] | CoQ10 biosynthesis |
| 2 [24] | primary CoQ10 deficiency | COQ4 | c.[718C > T];[421C > T] | CoQ10 biosynthesis |
| 3 [25] | primary CoQ10 deficiency | COQ4 | c.[431C > A];[718C > T] | CoQ10 biosynthesis |
| 4 | primary CoQ10 deficiency | COQ4 | c.[190C > T];[479G > A] | CoQ10 biosynthesis |
| 5 | primary CoQ10 deficiency | COQ4 | c.[190C > T];[479G > A] | CoQ10 biosynthesis |
| 6 [26] | Leigh syndrome | NDUFA1 | c.[55C > T], 100% (X-linked) | Respiratory chain subunits, complex I |
| 7 [26] | Leigh syndrome | MT-ND3 | m.10158 T>C, heteroplasmic (F; 90%) | Respiratory chain subunits, complex I |
| 8 [27] | neonatal cardiomyopathy | MT-ND5 | m.13513G > A, heteroplasmic (F; 78.87%) | Respiratory chain subunits, complex I |
| 9 | infantile mitochondrial disease | MT-ND5 | m.13513G > A, heteroplasmic (B; 77%) | Respiratory chain subunits, complex I |
| 10 [28] | Leigh syndrome | MT-ND5 | m.13513G > A, heteroplasmic (F; 26%) | Respiratory chain subunits, complex I |
| 11 | mitochondrial cardiomyopathy | ACAD9 | c.[811 T > G];[1766-2A > G] | Respiratory chain assembly factor, complex I |
| 12 [28] | non-lethal infantile mitochondrial disease | ACAD9 | c.[1150G > A];[1817 T > A] | Respiratory chain assembly factor, complex I |
| 13 [29] | Leigh syndrome | SURF1 | c.[743C>A], homoplasmy | Respiratory chain assembly factor, complex IV |
| 14 [25] | Leigh syndrome | SURF1 | c.[367_368delAG];[572delC] | Respiratory chain assembly factor, complex IV |
| 15 [25] | Leigh syndrome | MT-ATP6 | m.8993 T > G, homoplasmy | Respiratory chain subunits, complex V |
| 16 [30] | mtDNA depletion syndrome | DGUOK | c.[143-307_170del335];[143-307_170del335] | Deoxynucleotide triphosphate synthesis |
| 17 [30] | mtDNA depletion syndrome | MPV17 | c.[451dupC];[308_310del] | mitochondrial protein synthesis |
| 18 [30] | mtDNA depletion syndrome | MPV17 | c.[148C > T];[149G > A] | mitochondrial protein synthesis |
| 19 | Kearns-Sayre syndrome | Single mtDNA deletion (5513 bp del; m.8290–13,802) | ||
| 20 [26] | MELAS | (tRNA-Leu) | m.3243 A > G, heteroplasmic (F; 21%) | Mitochondrial tRNA |
| 21 [26] | MELAS | (tRNA-Trp) | m.5541C > T, heteroplasmic (F; 49%) | Mitochondrial tRNA |
| 22 [31] | ECHS1 deficiency | ECHS1 | c.[832G > A] | Metabolism of toxic compounds |
| 23 [28] | cardiomyopathy | BOLA3 | c.[287A > G];[287A > G] | Iron‑sulfur protein assembly |
| 24 | cardiomyopathy | BOLA3 | c.[287A > G];[287A > G] | Iron‑sulfur protein assembly |
a
F; fibroblasts, B; blood