Table 1.
Nuclear Genes That Affect the Stability of Mitochondrial DNA
| Gene | Disorder | Chromosomal locus |
Function |
|---|---|---|---|
| POLG | PEO / Alpers / ataxia | 15q25 | Mitochondrial DNA polymerase |
| POLG2 | PEO | 17q23–24 | Pol γ accessory subunit |
| PEO1 (Twinkle) | PEO / ataxia | 10q24 | Mitochondrial DNA helicase |
| MGME1 | PEO, MtDNA depletion | 20p11.23 | RecB type exonuclease |
| ANT1 | PEO | 4q34–35 | Adenine nucleotide translocator |
| TP | MNGIE | 22q13.32 | Thymidine phosphorylase |
| DGUOK | MtDNA depletion | 2p13 | Deoxyguanosine kinase |
| TK2 | MtDNA depletion | 16q22 | Mitochondrial thymidine kinase |
| MPV17 | MtDNA depletion | 2p21–23 | Mt inner membrane protein |
| SUCLA2 | MtDNA depletion | 13q12.2–13.3 | ATP-dependent Succinate-CoA ligase |
| SUCLG1 | MtDNA depletion | 2p11.2 | GTP-dependent Succinate CoA ligase |
| RRM2B | MtDNA depletion | 8q23.1 | p53-Ribonucleotide reductase, small subunit |
| OPA1 | Dominant optic atrophy | 3q28–29 | Dynamin-related GTPase |
| FBXL4 | MtDNA depletion, Encephalopathy | 6q16.1–16.3 | Mitochondrial LRR F-Box protein |
Abbreviations: ATP, adenosine- 5’-triphosphate; CoA, coenzyme A; GTP, guanosine-5'-triphosphate; LLR, leucine-rich repeats; PEO, progressive external ophthalmoplegia; MNGIE, mitochondrial neurogastrointestinal encephalomyopathy; mtDNA, mitochondrial DNA.