Table 4. Number of cases of mtDNA abnormalities reported in the general population of children with ASD and in children with ASD/MD.
| MD | MD unknown | Positive family history | |
|---|---|---|---|
| mtDNA depletion | 3 | 1 | |
| mtDNA deletions | 5 | 8 | |
| mtDNA mutations | |||
| tRNA | 7 | 2 | 2 |
| 3243A>G | 4 | 2 | 2 |
| Complex I | 3 | ||
| Primary LHON | 2 | ||
| POLG | 2 | ||
| Summary for mtDNA mutations in MD above |
Reference |
||
| 3397A>G (complex I) and 4295A>G (tRNA) | Weissman et al.25 | ||
| 3243A>G MELAS × 2, POLG × 2, LHON × 2 | Scaglia et al.145 | ||
| 3243A>G × 2 | Pons et al.142 | ||
| G8363A (tRNA) | Graf et al.147 | ||
| G10406A (tRNA) | Pancrudo et al.99 | ||
Abbreviations: ASD, autism spectrum disorder; LHON, Leber Hereditary Optic Neuropathy; MELAS, mitochondrial myopathy, encephalopathy, lactic acidosis and stroke syndrome; MD, mitochondrial disease; mtDNA, mitochondrial DNA; POLG, polymerase gamma; tRNA, transfer RNA.