Table 1. Characteristics of LHON cases and unaffected relatives recruited in the study.
| Subjects | Gender | Age at present (years) | Age of onset (years) | Age at skin biopsy (years) | Fibroblast Passage used | G11778A | Haplogroup | mtDNA/nDNAratio * | References |
| Affected LHON | |||||||||
| Pedigree F1 | [13], [27] | ||||||||
| (A1) | M | 25 | 7 | 20 | P6 | homoplasmy | M7b1a1e1 | 0.84 | |
| (A2) | M | 26 | 14 | 21 | P6 | homoplasmy | M7b1a1e1 | 0.79 | |
| Pedigree F9 | [13], [27] | ||||||||
| (A3) | M | 30 | 9 | 24 | P6 | homoplasmy | C7a1 | 0.82 | |
| (A4) | M | 49 | 12 | 43 | P6 | homoplasmy | C7a1 | 0.85 | |
| Pedigree F66 | [9] | ||||||||
| (A5) | M | 42 | 36 | 36 | P6 | homoplasmy | M13c | 0.85 | |
| (A6) | M | 37 | 18 | 33 | P6 | homoplasmy | M13c | 0.68 | |
| (A7) | M | 54 | 20 | 50 | P6 | homoplasmy | M13c | 0.85 | |
| Unaffected LHON | |||||||||
| Pedigree F1 (U1) | M | 30 | 25 | P6 | homoplasmy | M7b1a1e1 | 0.72 | [13], [27] | |
| Pedigree F9 (U2) | M | 21 | 15 | P6 | homoplasmy | C7a1 | 0.47 | [13], [27] | |
| Pedigree F66 (U3) | F | 49 | 45 | P6 | homoplasmy | M13c | 0.66 | [9] | |
| Controls | |||||||||
| C1 | M | 43 | 37 | P6 | NO | 0.51 | |||
| C2 | M | 26 | 20 | P6 | NO | 0.51 | |||
| C3 | F | 46 | 40 | P6 | NO | 0.66 | |||
| C4 | F | 52 | 46 | P6 | NO | 0.74 | |||
| C5 | M | 58 | 52 | P6 | NO | 0.65 |
*MtDNA/nuclear DNA from fibroblast of each individual was measured according to Pejznochova M, 2008 [62] by amplification of ND5 gene in mitochondrial genome from position 13466–13650 (GenBank sequence NC_012920 gi:251831106), and PARL gene from nuclear genome from 16912–17165 (GenBank sequence: NC_000003.12 gi:224589815). Real-time PCR amplification was performed on Bio-Rad CFX 96 thermo cycler and the threshold cycle (Ct) was obtained. MtDNA/nuclear DNA ratio was calculated from the Ct (mtDNA)/Ct (nDNA) ratio. The increasing ratio shows decrease in amount of mtDNA per cell [62].