1,914
Views
9
CrossRef citations to date
0
Altmetric
Research Communications

Mitochondrial variations in the MT-ND4 and MT-TL1 genes are associated with male infertility

, , , , &
Pages 2-6 | Received 11 Jul 2016, Accepted 15 Sep 2016, Published online: 14 Dec 2016

References

  • Anderson, S., Bankier, A.T., Barrell, B.G., de Bruijn, M.H., Coulson, A.R., Drouin, J., et al. (1981) Sequence and organization of the human mitochondrial genome. Nature 290(5806): 457–465.
  • De Kretser, D.M. (1997) Male infertility. Lancet 349(9054): 787–790.
  • Díez-Sánchez, C., Ruiz-Pesini, E., Lapeña, A.C., Montoya, J., Pérez-Martos, A., Enríquez, J.A., et al. (2003) Mitochondrial DNA content of human spermatozoa. Biol Reprod 68(1): 180–185.
  • DiMauro, S., Schon, E.A. (2003) Mitochondrial respiratory-chain diseases. New Engl J Med 348(26): 2656–2668.
  • Ferramosca, A., Focarelli, R., Piomboni, P., Coppola, L., Zara, V. (2008) Oxygen uptake by mitochondria in demembranated human spermatozoa: a reliable tool for the evaluation of sperm respiratory efficiency. Int J Androl 31(3): 337–345.
  • Ferramosca, A., Zara, V. (2014) Bioenergetics of Mammalian Sperm Capacitation. Biomed Res Int 2014: 902953.
  • Folgero, T., Bertheussen, K., Lindal, S., Torbergsen, T., Oian, P. (1993) Mitochondrial disease and reduced sperm motility. Hum Reprod 8(11): 1863–1868.
  • Gruber, A.R., Lorenz, R., Bernhart, S.H., Neuböck, R., Hofacker, I.L. (2008) The Vienna RNA Website. Nucleic Acids Res 1: W70–74.
  • Hirst, J., Carroll, J., Fearnley, I.M., Shannon, R.J., Walker, J.E. (2003) The nuclearencoded subunits of complex I from bovine heart mitochondria. Biochim Biophys Acta 1604(3): 135–150.
  • Holyoake, A.J., McHugh, P., Wu, M., O’Carroll, S., Benny, P., Sin, I.L., et al. (2001) High incidence of single nucleotide substitutions in the mitochondrial genome is associated with poor semen parameters in men. Int J Androl 24(3): 175–182.
  • Lestienne, P., Reynier, P., Chretien, M.F., Penisson-Besnier, I., Malthiery, Y., Rohmer, V. (1997) Oligoasthenospermia associated with multiple mitochondrial DNA rearrangements. Mol Hum Reprod 3(9): 811–814.
  • Levin, L., Zhidkov, I., Gurman, Y., Hawlena, H., Mishmar, D. (2013) Functional recurrent mutations in the human mitochondrial phylogeny: dual roles in evolution and disease. Genome Biol Evol 5(5): 876–890.
  • Nakada, K., Sato, A., Yoshida, K., Morita, T., Tanaka, H., Inoue, S.I., et al. (2006) Mitochondria-related male infertility. Proc Natl Acad Sci U S A 103(41): 15148–15153.
  • O’Connell, M., McClure, N., Lewis, S.E.M. (2002) A comparison of mitochondrial and nuclear DNA status in testicular sperm from fertile men and those with obstructive azoospermia. Hum Reprod 17(6): 1571–1577.
  • Pereira, L., Soares, P., Radivojac, P., Li, B., Samuels, D.C. (2011) Comparing phylogeny and the predicted pathogenicity of protein variations reveals equal purifying selection across the global human mtDNA diversity. Am J Hum Genet 88(4): 433–439.
  • Pereira, L., Goncalves, J., Bandelt, H.J. (2008) Mutation C11994T in the mitochondrial ND4 gene is not a cause of low sperm motility in Portugal. Fertil Steril 89(3): 738–741.
  • Rani, D.S., Vanniarajan, A., Gupta, N.J., Chakravarty, B., Singh, L., Thangaraj, K. (2006) A novel missense mutation C11994T in the mitochondrial ND4 gene as a cause of low sperm motility in the Indian subcontinent. Fertil Steril 86(6): 1783–1785.
  • Rovio, A.T., Marchington, D.R., Donat, S., Schuppe, H.C., Abel, J., Fritsche, E., et al. (2001) Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility. Nat Genet 29(3): 261–262.
  • Spiropoulos, J., Turnbull, D.M., Chinnery, P.F. (2002) Can mitochondrial DNA mutations cause sperm dysfunction? Mol Hum Reprod 8(8): 719–721.
  • WHO. (2010) WHO Laboratory manual for the examination and processing of human semen. 5th Edition. WHO press.
  • Yagi, T., Matsuno-Yagi, A. (2003) The proton-translocating NADH- quinoneoxidoreductase in the respiratory chain: the secret unlocked. Biochemistry 42(8): 2266–2274.
  • Yakes, F.M., Van Houten, B. (1997) Mitochondrial DNA damage is more extensive and persists longer than nuclear DNA damage in human cells following oxidative stress. Proc Natl Acad Sci U S A 94(2): 514–519.
  • Zhu, H.Y., Wang, S.W., Liu, L., Chen, R., Wang, L., Gong, X.L., Zhang, M.L. (2009) Genetic variants in mitochondrial tRNA genes are associated with essential hypertension in a Chinese Han population. Clin Chim Acta410: 64–69.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.