Table 1.
Mitochondrial genes associated with SZ in at least two independent studies
| Symbol | SZ associations, n | Association type and references |
|---|---|---|
| MDH2 | 4 | de novo CNV [19], CNV [18], ↓ RNA (DLPFC pyramidal) [5], ↓ RNA (DG) [34] |
| NDUFS2 | 4 | GWAS (early onset) [33], ↓ RNA (DLPFC pyramidal) [5], peak expression (l5–25 years) [35], DER (teen > adult) [36] |
| ATP5A1 | 3 | rare mutation [15], ↓ RNA (PFC area 9) [13], ↑ protein (DLPFC/ACC) [37] |
| IDH3A | 3 | ↓ RNA (DLPFC pyramidal) [5], ↓ RNA (DG) [34], ↓ protein (ACC) [37] |
| NDUFA2 | 3 | GWAS (PGC) [12], ↓ RNA (DLPFC pyramidal) [5], ↑ protein (DLPFC) [37] |
| BDH1 | 3 | de novo CNV [19], CNV [18], DER (teen > adult) [36] |
| CLPX | 3 | de novo mutation [14], peak expression (15–25 years) [35], DER (teen > child) [36] |
| GOT2 | 3 | CNV [18], ↓ RNA (PFC area 9) [13], peak expression (15–25 years) [35] |
| MDH1 | 3 | ↓ RNA (PFC area 9) [13], DER (teen > child) [36], ↓ protein (DLPFC) [37] |
| QDPR | 3 | peak expression (15–25 years) [35], DER (teen > child) [36], ↓ protein (DLPFC) [37] |
| UQCRC1 | 2 | DER (teen > child) [36], ↓↑ protein (DLPFC) [37] |
| IDH3B | 2 | ↓ RNA (DLPFC pyramidal) [5], peak expression (15–25 years) [35] |
| ACO2 | 2 | rare mutation [15], ↓ protein (DLPFC) [37] |
| DLD | 2 | ↓ RNA (DLPFC pyramidal) [5], peak expression (15–25 years) [35] |
| SDHA | 2 | ↓ RNA (DG) [34], ↓ protein (ACC) [37] |
| NDUFS4 | 2 | ↓ RNA (DLPFC pyramidal) [5], ↓ RNA (DG) [34] |
| UQCRFS1 | 2 | ↓ RNA (DLPFC pyramidal) [5], ↓ RNA (DG) [34] |
| ATP5B | 2 | ↓ RNA (DLPFC pyramidal) [5], ↓ protein (DLPFC/CC) [37] |
| NDUFS1 | 2 | GWAS (early onset) [33], ↓ protein (DLPFC) [37] |
| NDUFV1 | 2 | ↓ RNA (DLPFC pyramidal) [5], peak expression (15–25 years) [35] |
| NDUFA6 | 2 | GWAS (PGC) [12], ↓ RNA (DLPFC pyramidal) [5] |
| SLC25A3 | 2 | rare mutation [15], peak expression (15–25 years) [35] |
| TUFM | 2 | CNV [18], ↓ protein (DLPFC) [37] |
| HIBADH | 2 | peak expression (15–25 years) [35], ↑ protein (DLPFC) [37] |
| NDUFB9 | 2 | ↓ RNA (DLPFC pyramidal) [5], peak expression (15–25 years) [35] |
| NDUFV2 | 2 | ↓ RNA (DLPFC pyramidal) [5], ↑ protein (DLPFC) [37] |
| PDHB | 2 | ↓ RNA (DLPFC pyramidal) [5], ↓ RNA (DG) [34] |
| HSPD1 | 2 | GWAS (PGC) [12], ↓ protein (DLPFC) [37] |
| NDUFB5 | 2 | ↓ RNA (DG) [34], DER (teen > child) [36] |
| TXNRD2 | 2 | CNV (22q11.2) [32], CNV [18] |
| PRODH | 2 | CNV (22q11.2) [32], CNV [18] |
| TIMM17A | 2 | ↓ RNA (DG) [34], ↓ RNA (PFC area 9) [13] |
| SLC25A4 | 2 | ↓ RNA (DLPFC pyramidal) [5], ↓ RNA (DG) [34] |
| MRPL40 | 2 | CNV (22q11.2) [32], CNV [18] |
| SLC25A1 | 2 | CNV (22q11.2) [32], CNV [18] |
| USMG5 | 2 | GWAS (PGC) [12], DER (teen > adult) [36] |
| NDUFA13 | 2 | GWAS (PGC) [12], peak expression (15–25 years) [35] |
| ATP5J | 2 | CNV [18], peak expression (15–25 years) [35] |
| PNKD | 2 | peak expression (15–25 years) [35], DER (teen > child) [36] |
| PPA2 | 2 | ↓ RNA (DLPFC pyramidal) [5], ↓ protein (DLPFC) [37] |
| SFXN2 | 2 | GWAS (PGC) [12], DER (teen > child) [36] |
| VDAC1 | 2 | de novo mutation [14], ↓ protein (DLPFC) [37] |
| IMMT | 2 | DER (teen > child) [36], ↓ protein (ACC) [37] |
| MRPS9 | 2 | peak expression (15–25 years) [35], DER (teen > adult) [36] |
| CYB5B | 2 | CNV [18], peak expression (15–25 years) [35] |
| HSDL1 | 2 | CNV [18], DER (teen > adult) [36] |
| PRDX1 | 2 | rare mutation [15], ↓ protein (DLPFC) [37] |
| SHMT1 | 2 | peak expression (15–25 years) [35], DER (teen > adult) [36] |
| COMTD1 | 2 | peak expression (15–25 years) [35], DER (teen > adult) [36] |
| PRDX2 | 2 | rare mutation [15], ↓ protein (DLPFC) [37] |
| VAMP1 | 2 | peak expression (15–25 years) [35], DER (teen > child) [36] |
| CERK | 2 | de novo mutation [14], DER (teen > adult) [36] |
| KYNU | 2 | rare mutation [15], peak expression (15–25 years) [35] |
| RNMTL1 | 2 | CNV [18], DER (teen > adult) [36] |
| OXR1 | 2 | peak expression (15–25 years) [35], DER (teen > child) [36] |
| COMT | 2 | CNV (22q11.2) [32], CNV [18] |
| TDRKH | 2 | de novo mutation [14], DER (teen > child) [36] |