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Mitochondrial DNA mutations and ND1 gene copy number in patients with Polycystic Ovary Syndrome (PCOS)



Present study analyze the possible mutations in mitochondrial encoded genes TRNL1 and ND1, the association of mtDNA copy number in PCOS women with and without diabetic mothers was evaluated. Blood samples were collected from all the individual participants of study and detailed anthropometric and demographic variables were collected. Sequence of each amplified product of RNA gene TRNL1 was analyzed in comparison with the updated Cambridge Sequence.  The PCR amplified products of ND1 were digested using Hae III and TaqI and were run in electrophoresis in 4 % agarose gel electrophoresis. Relative quantification of mtDNA was compared with unique nuclear encoded gene based on the ratio of mtDNA to unique nuclear encoded gene using Real Time PCR. The group was effectively and closely similar for age and BMI. Aged varied between 24-25 years and 50-51 years for daughters and mother respectively. Results identified a five different type of mutation in study sample, among which only one was seen in non PCOS group, rest other four were found in both daughters and mother of PCOS group.  All these nucleotide point mutation were verified by sequence analysis of both strands and appeared to be heteroplasmy Of the 36 PCOS samples analyzed one sample showed the G3316A mutation in the homoplasmy state. Nonsynonymous mutation leads to amino acid change from Alanine to Threonine. Analysis of the copy number in mothers revealed that mothers of PCOS women too had less copy number when compared to the mothers of Non-PCOS. Mtcopy number was significantly reduced in PCOS women with diabetic mother when compared to the PCOS women with non-diabetic mother and also the Mtcopy number was less in PCOS women of non-diabetic mother with diabetic family history. Though evidence is not confirmatory to say that PCOS is a phenotypic feature of MIDs. This study on mtDNA variants reported with small number of sample in association with PCOS by a single centre can be justified with more number of samples in multicentre studies. To explore more of hereditary PCOS, whole exome (genome) sequencing is suggested.

Tsitologiya i Genetika 2020, vol. 54, no. 3, pp. 98-99

  1. Department of Obstetrics and Gynecology, Sri Ramachandra Institute of Higher Education and Research (Deemed to be University), Porur, Chennai, India
  2. Professor and Head Of Department of Human Genetics, Sri Ramachandra Institute of Higher Education and Research (Deemed to be University), Porur, Chennai, India
  3. Professor and Unit Chief of Department of Obstetrics and Gynecology, Sri Ramachandra Institute of Higher Education and Research (Deemed to be University), Porur, Chennai, India
  4. Professor, Head and Project Coordinator, Department of Bioinformatics Center and ARIS Cell, Madras Veterinary College, Tamil Nadu Veterinary and Animal Sciences University

E-mail: drinthu, wise_soly, npalaniappan, kumarasamy

INTHU Dr.M., PAUL Dr. SOLOMEN F.D., PALANIAPPAN Dr.N., KUMARASAMY Dr. Mitochondrial DNA mutations and ND1 gene copy number in patients with Polycystic Ovary Syndrome (PCOS), Tsitol Genet., 2020, vol. 54, no. 3, pp. 98-99.

In "Cytology and Genetics":
Dr. M. Inthu, Dr. Solomen. F. D. Paul, Dr. N. Palanippan & Dr. Kumarasamy Mitochondrial DNA Mutations and ND1 Gene Copy Number in Patients with Polycystic Ovary Syndrome (PCOS), Cytol Genet., 2020, vol. 54, no. 3, pp. 264–270
DOI: 10.3103/S0095452720030056


1. Chen, X., Yang, D., Mo, Y., Li, L., Chen, Y., and Huang, Y., Prevalence of polycystic ovary syndrome in unselected women from southern China, Eur. J. Obstet. Gynecol. Reprod. Biol., 2008, vol. 139, p. 59.

2. Brownlee, M., Biochemistry and molecular cell biology of diabetic complications, Nature, 2001, vol. 414, pp. 813–820.

3. Rosen, P., Nawroth, P.P., King, G., Moller, W., Tritschler, H.J., and Packer L., The role of oxidative stress in the onset and progression of diabetes and its complications: a summary of a Congress Series sponsored by UNESCO-MCBN, the American Diabetes Association and the German Diabetes Society, Diabetes Metab. Res. Rev., 2001, vol. 17, no. 3, pp. 189–212.

4. Skov, V., Glintborg, D., Knudsen, S., Jensen, T., Kruse, T.A., Tan, Q., Brusgaard, K., Beck-Nielsen, H., and Hojlund, K., Reduced expression of nuclear-encoded genes involved in mitochondrial oxidative metabolism in skeletal muscle of insulin-resistant women with polycystic ovary syndrome, Diabetes, 2007, vol. 56, pp. 2349–2355.

5. Croteau, D.L. and Bohr, V.A., Repair of oxidative damage to nuclear and mitochondrial DNA in mammalian cells, J. Biol. Chem., 1997, vol. 272, pp. 25409–25412.

6. Bhat, A., Koul, A., Sharma, S., Rai, E., Bukhari S.I., Dhar, M.K., and Bamezai, R.N., The possible role of 10398A and 16189C mtDNA variants in providing susceptibility to T2DM in two North Indian populations: a replicative study, Hum. Genet., 2007, vol. 120, no. 6, pp. 821–826.

7. Liu, C.S., Cheng, W.L., Lee, C.F., Ma, Y.S., Lin, C.Y., Huang, C.-C, and Wei, Y.-H, Alteration in the copy number of mitochondrial DNA in leukocytes of patients with mitochondrial encephalomyopathies, Acta Neurol. Scand., 2006, vol. 113, no. 5, pp. 334–341.

8. Lee, H.C., Yin, P.H., Lu, C.Y., Chi, C.W., and Wei, Y.H., Increase of mitochondria and mitochondrial DNA in response to oxidative stress in human cells, Biochem. J., 2000, vol. 348, no. 2, pp. 425–432.

9. Lee, H.C., Yin, P.H., Chi, C.W., and Wei, Y.H., Increase in mitochondrial mass in human fibroblasts under oxidative stress and during replicative cell senescence, J. Biomed. Sci., 2002, vol. 9, pp. 517–526.

10. Basheer, M., Rai, S., Melatonin vs. phytomelatonin: therapeutic uses with special reference to polycystic ovarian syndrome (PCOS), Cogent. Biol., 2016, vol. 31, no. 2 (1), p. 1136257.

11. Duraisamy, P., Elango, S., Vishwanandha, V.P., and Balamurugan, R., Prevalence of mitochondrial tRNA gene mutations and their association with specific clinical phenotypes in patients with type 2 diabetes mellitus of Coimbatore, Genet. Test. Mol. Biomarkers, 2010, vol. 14, pp. 49–55.

12. Fr, D.D. and Tarlatzis, R., Revised 2003 consensus on diagnostic criteria and long-term health risks related to polycystic ovary syndrome, Fertil. Steril., 2004, vol. 81, no. 1.

13. The Rotterdam ESHRE/ASRM-Sponsored PCOS consensus workshop group revised 2003 consensus on diagnostic criteria and long-term health risks related to polycystic ovary syndrome (PCOS), Hum. Reprod., 2004, vol. 19, pp. 41–47.

14. Petersen, K.F., Dufour, S., Befroy, D., Garcia, R., and Shulman, G.I., Impaired mitochondrial activity in the insulin-resistant offspring of patients with type 2 diabetes, N. Engl. J. Med., 2004, vol. 350, pp. 664–671.

15. Chien, M.C., Huang, W.T., Wang, P.W., Liou, C.W., Lin, T.K., Hsieh, C.J., and Weng, S.W., Role of mitochondrial DNA variants and copy number in diabetic atherogenesis, Genet. Mol. Res., 2012, vol. 17, no. 11 (3), pp. 3339–3348.

16. de Andrade, P.B., Rubi, B., Frigerio, F., van den Ouweland, J.M., Maassen, J.A., and Maechler, P., Diabetes-associated mitochondrial DNA mutation A3243G impairs cellular metabolic pathways necessary for cell function, Diabetologia, 2006, vol. 49, pp. 1816–1826.

17. Finsterer, J., Zarrouk-Mahjoub, S., Polycystic ovary syndrome in mitochondrial disorders due mtDNA or nDNA variants, Am. J. Translat. Res., 2018, vol. 10, no. 1, p. 13.

18. Kadowaki, T., Kadowaki, H., Mori, Y., Tobe, T., Sakuta, R., Suzuki, Y., Tanabe, Y., Sakura, H., Awata, T., Goto, Y.I., Hayakawa, T., Matsuoka, K., Kawamori, R., Kamada, T., Horai, S., Nonaka, I., Hagura, R., Akanuma, Y., and Yazaki, Y., () A subtype of diabetes mellitus associated with a mutation of mitochondrial DNA, N. Engl. J. Med., 1994, vol. 330, pp. 962–968.

19. Maassen, J.A., van den Ouweland, J.M.W., t’Hart, L.M., and Lemkes, H.H.P.J., Maternally inherited diabetes and deafness: a diabetic subtype associated with a mutation in mitochondrial DNA, Horm. Metab. Res., 1997, vol. 29, pp. 50–55.

20. Martin-Kleiner, I., Pape-Medvidović, E., Pavlić-Renar, I., Metelko, Z., Kusec, R., Gabrilovac, J., and Boranić, M., A pilot study of mitochondrial DNA point mutation A3243G in a sample of Croatian patients having type 2 diabetes mellitus associated with maternal inheritance, Acta Diabetol., 2004, vol. 41, pp. 179–184.

21. Mohlke, K.L., Jackson, A.U., Scott, L.J., Peck, E.C., Suh, Y.D., Chines, P.S., Watanabe, R.M., Buchanan, T.A., Conneely, K.N., Erdos, M.R., Narisu, N., Enloe, S., Valle, T.T., Tuomilehto, J., Bergman, R.N., Boehnke, M., and Collins, F.S., Mitochondrial polymorphisms and susceptibility to type 2 diabetes-related traits in Finns, Hum. Genet., 2005, vol. 118, pp. 245–254.

22. Mukherjee, S., Maitra, A., Molecular and genetics factors contributing to insulin resistance in polycystic ovary syndrome, India J. Med. Res., 2010, vol. 131, pp. 743–760.

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