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Table 1 Mitochondrial Genome Abnormalities related to PCOS

From: Polycystic ovary syndrome and mitochondrial dysfunction

GENE Abnormality References
mtDNA copy numbers ↑ / ↓ [74, 84, 85, 88, 107]
PGC-1α ↑/ methylated [88, 108]
D-loop methylated [107]
TFAM [88]
NRF-1 [88]
tRNAGln mutation [92]
tRNACys mutation [92]
tRNAAsp mutation [92]
tRNALys mutation [92]
tRNAArg mutation [92]
tRNAGlu mutation [92]
C3275T mutation in tRNALeu mutation [84]
T4363C mutation in tRNAGln mutation [84]
A8343G mutation in tRNALys mutation [84]
D310 in the mtDNA D-loop SNPs [85, 92]
A189G in the mtDNA D-loop SNPs [85]
NDUFA3 [100]
SDHD [100]
UCRC [100]
COX7C [100]
ATP5H [100]
PGC-1α rs8192678 “Ser” allele mutation [100]
A3302G in mt-tRNALeu (UUR) mutation [109]
C7492T in mt-tRNASer (UCN) mutation [109]
T12338C in ND5 mutation [109]
NIX [108]
Rheb [108]