Table 1.
Prevalence Estimate for mtDNA Mutations in North East England
| mtDNA Mutation | Affected, No. | Prevalence in Affected Adults (95% CI) | At Risk, No. | Prevalence in Adults and Children at Risk (95% CI) |
|---|---|---|---|---|
| Single mtDNA deletiona | 31 | 1.5 (1.0–2.1) × 10−5 | 0 | 0 |
| Primary LHON mutations | ||||
| m.3460G>A, MT‐ND1 | 29 | 1.4 (0.9–2.0) × 10−5 | 36 | 1.4 (1.0–1.9) × 10−5 |
| m.11778G>A, MT‐ND4 | 43 | 2.0 (1.5–2.7) × 10−5 | 69 | 2.7 (2.1–3.4) × 10−5 |
| m.14484T>C, MT‐ND6 | 6 | 0.3 (0.1–0.6) × 10−5 | 10 | 0.4 (0.2–0.7) × 10−5 |
| Subtotal | 78 | 3.7 (2.9–4.6) × 10−5 | 115 | 4.4 (3.7–5.3) × 10−5 |
| mt‐tRNA point mutations | ||||
| m.1624 C>T, MT‐TV | 1 | 0.05 (0.0–0.3) × 10−5 | 0 | 0 |
| m.3243A>G, MT‐TL1 | 74 | 3.5 (2.7–4.4) × 10−5 | 115 | 4.4 (3.7–5.3) × 10−5 |
| m.5650A>G, MT‐TA | 2 | 0.1 (0.0–0.3) × 10−5 | 3 | 0.1 (0.0–0.3) × 10−5 |
| m.5816A>G, MT‐TC | 3 | 0.1 (0.0–0.4) × 10−5 | 0 | 0 |
| m.8344A>G, MT‐TK | 5 | 0.2 (0.1–0.5) × 10−5 | 12 | 0.5 (0.2–0.8) × 10−5 |
| m.10010T>C, MT‐TG | 1 | 0.05 (0.0–0.3) × 10−5 | 0 | 0 |
| m.12258G>A, MT‐TS2 | 1 | 0.05 (0.0–0.3) × 10−5 | 12 | 0.5 (0.2–0.8) × 10−5 |
| m.12283G>A, MT‐TL2 | 1 | 0.05 (0.0–0.3) × 10−5 | 0 | 0 |
| m.12320A>G, MT‐TL2 | 1 | 0.05 (0.0–0.3) × 10−5 | 4 | 0.2 (0.0–0.4) × 10−5 |
| m.14709 T>C, MT‐TE | 3 | 0.1 (0.0–0.4) × 10−5 | 19 | 0.7 (0.4–1.1) × 10−5 |
| Subtotal | 92 | 4.3 (3.5–5.3) × 10−5 | 165 | 6.3 (5.4–7.4) × 10−5 |
| mt‐mRNA point mutations | ||||
| m.8993T>C, MT‐ATP6 | 2 | 0.1 (0.0–0.3) × 10−5 | 0 | 0 |
| m.8993T>G, MT‐ATP6 | 1 | 0.05 (0.0–0.3) × 10−5 | 2 | 0.1 (0.0–0.3) × 10−5 |
| Subtotal | 3 | 0.1 (0.0–0.4) × 10−5 | 2 | 0.1 (0.0–0.3) × 10−5 |
| Total | 204 | 9.6 (8.3–11.0) × 10−5 | 282 | 10.8 (9.6–12.2) × 10−5 |
a
Denotes sporadic mutations (all others are maternally inherited).
CI=confidence interval; LHON = Leber hereditary optic neuropathy; MT‐ATP6 = mitochondrial ATP synthase F0 subunit 6; MT‐ND1 = mitochondrial NADH dehydrogenase subunit 1; MT‐ND4 = mitochondrial NADH dehydrogenase subunit 4; MT‐ND6 = mitochondrial NADH dehydrogenase subunit 6; MT‐TA = mitochondrial tRNA alanine; MT‐TC = mitochondrial tRNA cysteine; MT‐TE = mitochondrial tRNA glutamic acid; MT‐TG = mitochondrial tRNA glycine; MT‐TK = mitochondrial tRNA lysine; MT‐TL1 = mitochondrial tRNA leucine 1; MT‐TL2 = mitochondrial tRNA leucine 2; MT‐TS2 = mitochondrial tRNA serine 2; MT‐TV = mitochondrial tRNA valine.