Table 1.

Mitochondrial Genome Abnormalities related to PCOS

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]