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PCOS, hirsutism, chronic anovulation, and infertility; mitochondrial encephalomyopathy, lactic acidosis, and stroke-like symptoms (MELAS), cardiomyopathy, myopathy with respiratory insufficiency, severe respiratory chain complex I deficiency and lowering |
There were 29 nucleotide changes in their mitochondrial genomes belonging to human mitochondrial haplogroup C. Of these, there were 5 variants in D-loop region,
2 variants in 12S ribosomal RNA (rRNA) gene, 1 mutation in tRNA gene, and 19 variants in prote |
PCOS was diagnosed when the phenotypes of the patients satisfied 2 of the following 3 criteria: oligomenorrhea or amenorrhea, clinical or biochemical hyperandrogenism, and ultrasonographic polycystic ovarian morphology |
Related
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As a part of genetic screening program for PCOS, one Han Chinese family was ascertained through the Department of Gynecology and Obstetrics in Hangzhou First People’s Hospital, China. Moreover, a total of 200 Han Chinese controls were obtained from a panel of unaffected individuals from the same area |
The genetic and molecular evidence of the present study indicated that the mt-tRNALeu(UUR) A3302G mutation was associated with IR in women with PCOS. The A3302G mutation not only caused the reduction in mitochondrial copy number but also reduced the steady-state level of tRNA. Thus, the A3302G mutation should be added to thelist of inherited risk factor for future molecular diagnosis of PCOS-IR. |
