Reproductive Biology and Endocrinology

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]
tRNA^Gln	mutation	[92]
tRNA^Cys	mutation	[92]
tRNA^Asp	mutation	[92]
tRNA^Lys	mutation	[92]
tRNA^Arg	mutation	[92]
tRNA^Glu	mutation	[92]
C3275T mutation in tRNA^Leu	mutation	[84]
T4363C mutation in tRNA^Gln	mutation	[84]
A8343G mutation in tRNA^Lys	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-tRNA^{Leu (UUR)}	mutation	[109]
C7492T in mt-tRNA^{Ser (UCN)}	mutation	[109]
T12338C in ND5	mutation	[109]
NIX	↑	[108]
Rheb	↑	[108]

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ISSN: 1477-7827

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