Table 1.
Genes encoding oxidative phosphorylation factors that display altered expression in MeCP2-deficient systems.
| Gene | Coding genome | Protein function | Δ | Cell/tissue type | Organism | References |
|---|---|---|---|---|---|---|
| Mt-Nd2 | mtDNA | NADH-dehydrogenase subunit 2 (complex I) | ↓ | Brain tissue | MeCP2-null mice | Kriaucionis et al., 2006 |
|
NDUFA 1, 2, 8, 9 NDUFB 2, 4, 6, 9, 10 NDUFC 1, 2 NDUFS 4, 5, 6 NDUFV 2 |
nDNA | NADH: ubiquinone oxidoreductase (complex I) | ↑ | Lympho-monocytes | Human (RTT patients) | Pecorelli et al., 2013 |
| SDHB | nDNA | Succinate dehydrogenase complex, subunit B (complex II) | ↑ | Lympho-monocytes | Human (RTT patients) | Pecorelli et al., 2013 |
| Uqcrc1 | nDNA | Cytochrome b-c1 complex subunit1 (complex III) | ↑ | Brain tissue | MeCP2-null mice | Kriaucionis et al., 2006 |
| UQCRC1 | nDNA | Cytochrome b-c1 complex subunit1 (complex III) | ↓ | ESC derived MeCP2-null neurons | Human | Li et al., 2013 |
|
UQCRQ UQCRFS1 UQCRH |
nDNA | Subunits of complex III | ↑ | Lympho-monocytes | Human (RTT patients) | Pecorelli et al., 2013 |
| CO1 | mtDNA | Cytochrome c oxidase subunit 1 (complex IV) | ↓ | Frontal and occipital cortex | Human (RTT patients) | Gibson et al., 2010 |
| MeCP2-null SH-SY5Y | Human | Gibson et al., 2010 | ||||
| Skeletal muscles | MeCP2-null mice | Gold et al., 2014 | ||||
| COX14, COX6C, COX7C, 7A2, 8A | nDNA | Subunits of cytochrome c oxidase (complex IV) | ↑ | Lympho-monocytes | Human (RTT patients) | Pecorelli et al., 2013 |
| ATP5A1, ATP5EP2, ATP5J2, ATP5O | nDNA | Subunits of ATP synthase (complex V) | ↑ | Lympho-monocytes | Human (RTT patients) | Pecorelli et al., 2013 |
| ATPIF1 | nDNA | ATPase inhibitory factor 1 | ↑ | Lympho-monocytes | Human (RTT patients) | Pecorelli et al., 2013 |
| ANT1 | nDNA | Adenine nucleotide transporter | ↑ | Brain tissue, cerebellum, skeletal muscles | MeCP2-null mice | Forlani et al., 2010 |
| CYCS | nDNA | Electron carrier cytochrome c | ↑ | Lympho-monocytes | Human (RTT patients) | Pecorelli et al., 2013 |