Table 1.
List of mtDNA mutations identified in Polycystic ovarian syndrome (PCOS) patients.
| Mutation | Gene | Other Notes | Year | |
|---|---|---|---|---|
| Mt8281 9 bp deletion | CO2/tRNALys | Chinese PCOS patients | 2010 | [55] |
| 2012 | [56] | |||
| Mt3302G (A-to-G) | tRNALeu(UUR) | One Chinese Han family case; T2DM and IR in family history, confirmed PCOS-IR in the proband | 2016 | [57] |
| Mt12338C (T-to-C)(M→T) | ND5 | One Chinese Han patient, PCOS-IR; double mutation | 2016 | [58] |
| Mt7492T (C-to-T) | tRNASer(UCN) | |||
| Mt3275T (C-to-T) | tRNALeu(UUR) | One Chinese family, PCOS-MetS diagnosed; hypertension and T2DM in family history; triple mutation | 2018 | [59] |
| Mt4363C (T-to-C) | tRNAGln | |||
| Mt8343G (A-to-G) | tRNALys | |||
| Mt3302G (A-to-G) | tRNALeu(UUR) | Chinese PCOS patients with IR | 2017 | [60] |
| Mt3275A (C-to-A) | ||||
| Mt4363C (T-to-C) | tRNAGln | |||
| Mt4395C (T-to-C) | ||||
| Mt5821A (G-to-A) | tRNACys | |||
| Mt7492T (C-to-T) | tRNASer(UCN) | |||
| Mt7543G (A-to-G) | tRNAAsp | |||
| Mt8343G (A-to-G) | tRNALys | |||
| Mt10454C (T-to-C) | tRNAArg | |||
| Mt14693G (A-to-G) | tRNAGlu | |||
| Mt189G (A-to-G) | H-origin | South Indian PCOS patients; only D-loop was analysed | 2017 | [61] |
| Mt310 (C7TC6-to-C8/C9/T/C6) | D-loop poly-C tract; TFAM binding site | |||
| Mt93G (A-to-G) | D-loop | Indian PCOS patients; only D-loop was analysed * | 2020 | [62] |
| Mt143A (G-to-A) | ||||
| Mt194T (C-to-T) | ||||
| Mt205C (G-to-C) | ||||
| Mt246C (T-to-C) | ||||
| Mt447G (C-to-G) | ||||
| Mt16081G (A-to-G) | ||||
| Mt16172C (T-to-C) | ||||
| Mt16266T (C-to-T) | ||||
| Mt16270T (C-to-T) | ||||
| Mt16304C (T-to-C) | ||||
| Mt16318T (A-to-T) | ||||
| Mt16325C (T-to-C) | ||||
| Mt16352C (T-to-C) | ||||
| Mt16356C (T-to-C) | ||||
| Mt16389C (G-to-C) | ||||
| Mt16390T (G-to-T) | ||||
| Mt16524G (A-to-G) |
* Only mutations identified in 3 and more patients have been shown.