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BioMed Research International
Volume 2014, Article ID 402475, 9 pages
http://dx.doi.org/10.1155/2014/402475
Research Article

Differentially Expressed MicroRNAs in Maternal Plasma for the Noninvasive Prenatal Diagnosis of Down Syndrome (Trisomy 21)

1Institute for Transfusion Medicine, Charité University Medicine, Augustenburger Platz 1, 13353 Berlin, Germany
2Research Center for Immune Science (RCIS), Charité University Medicine, Hessische Strasse 3-4, 10115 Berlin, Germany
3Institute for Human Genetics, Charité University Medicine, Augustenburger Platz 1, 13353 Berlin, Germany
4Clinical Pathology Department, Faculty of Medicine, Alexandria University, Alexandria, Egypt
5Systems Biology and Bioinformatics Laboratory, University of Algarve, Campus of Gambelas, 8005-139 Faro, Portugal
6Human Genetics Practice, Friedrichstraße 147, 10117 Berlin, Germany
7Prenatal Diagnosis and Human Genetics Centre, Friedrichstraße 147, 10117 Berlin, Germany

Received 14 June 2014; Accepted 9 September 2014; Published 12 November 2014

Academic Editor: Kui Li

Copyright © 2014 Julian Kamhieh-Milz et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. A. Mégarbané, A. Ravel, C. Mircher et al., “The 50th anniversary of the discovery of trisomy 21: the past, present, and future of research and treatment of Down syndrome,” Genetics in Medicine, vol. 11, no. 9, pp. 611–616, 2009. View at Publisher · View at Google Scholar · View at Scopus
  2. W. I. Cohen, “Health care guidelines for individuals with Down Syndrome,” Down Syndrome Quarterly, vol. 4, no. 3, pp. 1–16, 1999. View at Google Scholar
  3. R. W. K. Chiu, C. R. Cantor, and Y. M. D. Lo, “Non-invasive prenatal diagnosis by single molecule counting technologies,” Trends in Genetics, vol. 25, no. 7, pp. 324–331, 2009. View at Publisher · View at Google Scholar · View at Scopus
  4. Y. M. Dennis Lo, N. Corbetta, P. F. Chamberlain et al., “Presence of fetal DNA in maternal plasma and serum,” The Lancet, vol. 350, no. 9076, pp. 485–487, 1997. View at Publisher · View at Google Scholar · View at Scopus
  5. Y. M. D. Lo, “Fetal DNA in maternal plasma: biology and diagnostic applications,” Clinical Chemistry, vol. 46, no. 12, pp. 1903–1906, 2000. View at Google Scholar · View at Scopus
  6. Y. M. D. Lo, “Recent advances in fetal nucleic acids in maternal plasma,” Journal of Histochemistry and Cytochemistry, vol. 53, no. 3, pp. 293–296, 2005. View at Publisher · View at Google Scholar · View at Scopus
  7. L. L. Poon, T. N. Leung, T. K. Lau, and Y. M. Lo, “Presence of fetal RNA in maternal plasma,” Clinical Chemistry, vol. 46, no. 11, pp. 1832–1834, 2000. View at Google Scholar · View at Scopus
  8. Y. M. Lo, N. M. Hjelm, C. Fidler et al., “Prenatal diagnosis of fetal RhD status by molecular analysis of maternal plasma,” The New England Journal of Medicine, vol. 339, no. 24, pp. 1734–1738, 1998. View at Google Scholar
  9. B. H. W. Faas, E. A. Beuling, G. C. M. L. Christiaens, A. E. G. K. Von Dem Borne, and C. E. Van Der Schoot, “Detection of fetal RHD-specific sequences in maternal plasma,” The Lancet, vol. 352, no. 9135, p. 1196, 1998. View at Google Scholar · View at Scopus
  10. J.-M. Costa, A. Benachi, and E. Gautier, “New strategy for prenatal diagnosis of X-linked disorders,” The New England Journal of Medicine, vol. 346, no. 19, article 1502, 2002. View at Publisher · View at Google Scholar · View at Scopus
  11. R. W. K. Chiu, T. K. Lau, T. N. Leung, K. C. K. Chow, D. H. K. Chui, and Y. M. Dennis Lo, “Prenatal exclusion of β thalassaemia major by examination of maternal plasma,” The Lancet, vol. 360, no. 9338, pp. 998–1000, 2002. View at Publisher · View at Google Scholar · View at Scopus
  12. E. K. O. Ng, T. N. Leung, N. B. Y. Tsui et al., “The concentration of circulating corticotropin-releasing hormone mRNA in maternal plasma is increased in preeclampsia,” Clinical Chemistry, vol. 49, no. 5, pp. 727–731, 2003. View at Publisher · View at Google Scholar · View at Scopus
  13. E. K. O. Ng, A. El-Sheikhah, R. W. K. Chiu et al., “Evaluation of human chorionic gonadotropin β-subunit mRNA concentrations in maternal serum in aneuploid pregnancies: a feasibility study,” Clinical Chemistry, vol. 50, no. 6, pp. 1055–1057, 2004. View at Publisher · View at Google Scholar · View at Scopus
  14. S. S. C. Chim, T. K. F. Shing, E. C. W. Hung et al., “Detection and characterization of placental microRNAs in maternal plasma,” Clinical Chemistry, vol. 54, no. 3, pp. 482–490, 2008. View at Publisher · View at Google Scholar · View at Scopus
  15. W. M. Grady and M. Tewari, “The next thing in prognostic molecular markers: MicroRNA signatures of cancer,” Gut, vol. 59, no. 6, pp. 706–708, 2010. View at Publisher · View at Google Scholar · View at Scopus
  16. V. Kinet, J. Halkein, E. Dirkx, and L. J. de Windt, “Cardiovascular extracellular microRNAs: emerging diagnostic markers and mechanisms of cell-to-cell RNA communication,” Frontiers in Genetics, vol. 4, article 214, 2013. View at Publisher · View at Google Scholar · View at Scopus
  17. P. Jarolim, “Overview of cardiac markers in heart disease,” Clinics in Laboratory Medicine, vol. 34, no. 1, pp. 1–14, 2014. View at Publisher · View at Google Scholar · View at Scopus
  18. T. Du and P. D. Zamore, “microPrimer: the biogenesis and function of microRNA,” Development, vol. 132, no. 21, pp. 4645–4652, 2005. View at Publisher · View at Google Scholar · View at Scopus
  19. J. Krol, I. Loedige, and W. Filipowicz, “The widespread regulation of microRNA biogenesis, function and decay,” Nature Reviews Genetics, vol. 11, no. 9, pp. 597–610, 2010. View at Publisher · View at Google Scholar · View at Scopus
  20. X. M. Zhu, T. Han, I. L. Sargent, G. W. Yin, and Y. Q. Yao, “Differential expression profile of microRNAs in human placentas from preeclamptic pregnancies vs normal pregnancies,” The American Journal of Obstetrics and Gynecology, vol. 200, no. 6, pp. 661.e1–661.e7, 2009. View at Publisher · View at Google Scholar · View at Scopus
  21. N. Bushati and S. M. Cohen, “MicroRNA functions,” Annual Review of Cell and Developmental Biology, vol. 23, pp. 175–205, 2007. View at Publisher · View at Google Scholar · View at Scopus
  22. I. Eisenberg, A. Eran, I. Nishino et al., “Distinctive patterns of microRNA expression in primary muscular disorders,” Proceedings of the National Academy of Sciences of the United States of America, vol. 104, no. 43, pp. 17016–17021, 2007. View at Publisher · View at Google Scholar · View at Scopus
  23. G. Reid, M. B. Kirschner, and N. van Zandwijk, “Circulating microRNAs: association with disease and potential use as biomarkers,” Critical Reviews in Oncology/Hematology, vol. 80, no. 2, pp. 193–208, 2011. View at Publisher · View at Google Scholar · View at Scopus
  24. D. E. Kuhn, G. J. Nuovo, M. M. Martin et al., “Human chromosome 21-derived miRNAs are overexpressed in down syndrome brains and hearts,” Biochemical and Biophysical Research Communications, vol. 436, no. 3, p. 564, 2013. View at Google Scholar · View at Scopus
  25. X.-J. He, Y. Xiao, Q. Zhang, L.-P. Ma, N. Li, and J. Yang, “Detection and functional annotation of misregulated microRNAs in the brain of the Ts65Dn mouse model of Down syndrome,” Chinese Medical Journal, vol. 126, no. 1, pp. 108–113, 2013. View at Publisher · View at Google Scholar · View at Scopus
  26. K. Kotlabova, J. Doucha, D. Chudoba, P. Calda, K. Dlouha, and I. Hromadnikova, “Extracellular chromosome 21-derived microRNAs in euploid & aneuploid pregnancies,” Indian Journal of Medical Research, vol. 138, pp. 935–943, 2013. View at Google Scholar · View at Scopus
  27. T. F. Haydar and R. H. Reeves, “Trisomy 21 and early brain development,” Trends in Neurosciences, vol. 35, no. 2, pp. 81–91, 2012. View at Publisher · View at Google Scholar · View at Scopus
  28. J. Keck-Wherley, D. Grover, S. Bhattacharyya et al., “Abnormal microRNA expression in Ts65Dn hippocampus and whole blood: contributions to down syndrome phenotypes,” Developmental Neuroscience, vol. 33, no. 5, pp. 451–467, 2011. View at Publisher · View at Google Scholar · View at Scopus
  29. I. Hromadníková, K. Kotlabová, J. Doucha, D. Chudoba, P. Calda, and K. Dlouhá, “Extracellular chromosome 21—derived microRNAs in maternal circulation: evaluation of their diagnostic potential for screening of Down syndrome,” Ceska Gynekologie, vol. 77, no. 5, pp. 395–402, 2012. View at Google Scholar · View at Scopus
  30. Y. Xu, W. Li, X. Liu, H. Ma, Z. Tu, and Y. Dai, “Analysis of microRNA expression profile by small RNA sequencing in down syndrome fetuses,” International Journal of Molecular Medicine, vol. 32, no. 5, pp. 1115–1125, 2013. View at Publisher · View at Google Scholar · View at Scopus
  31. E. V. Chandrasekaran, J. Xue, J. Xia et al., “Mammalian sialyltransferase ST3Gal-II: its exchange sialylation catalytic properties allow labeling of sialyl residues in mucin-type sialylated glycoproteins and specific gangliosides,” Biochemistry, vol. 50, no. 44, pp. 9475–9487, 2011. View at Publisher · View at Google Scholar · View at Scopus
  32. S. Birken, “Specific measurement of O-linked core 2 sugar-containing isoforms of hyperglycosylated human chorionic gonadotropin by antibody B152,” Tumor Biology, vol. 26, no. 3, pp. 131–141, 2005. View at Publisher · View at Google Scholar · View at Scopus
  33. R. Zhang, Y.-Q. Wang, and B. Su, “Molecular evolution of a primate-specific microRNA family,” Molecular Biology and Evolution, vol. 25, no. 7, pp. 1493–1502, 2008. View at Publisher · View at Google Scholar · View at Scopus
  34. H. Fu, Y. Tie, C. Xu et al., “Identification of human fetal liver miRNAs by a novel method,” FEBS Letters, vol. 579, no. 17, pp. 3849–3854, 2005. View at Publisher · View at Google Scholar · View at Scopus
  35. T. R. Grossman, A. Gamliel, R. J. Wessells et al., “Over-expression of DSCAM and COL6A2 cooperatively generates congenital heart defects,” PLoS Genetics, vol. 7, no. 11, Article ID e1002344, 2011. View at Publisher · View at Google Scholar · View at Scopus
  36. L.-L. Wang, Z. Zhang, Q. Li et al., “Ethanol exposure induces differential microRNA and target gene expression and teratogenic effects which can be suppressed by folic acid supplementation,” Human Reproduction, vol. 24, no. 3, pp. 562–579, 2009. View at Publisher · View at Google Scholar · View at Scopus
  37. X. Chen, M. X. Liu, and G. Y. Yan, “RWRMDA: predicting novel human microRNA-disease associations,” Molecular BioSystems, vol. 8, no. 10, pp. 2792–2798, 2012. View at Publisher · View at Google Scholar · View at Scopus
  38. E. A. van der Wal, F. Gomez-Pinilla, and C. W. Cotman, “Transforming growth factor-β1 is in plaques in Alzheimer and Down pathologies,” NeuroReport, vol. 4, no. 1, pp. 69–72, 1993. View at Publisher · View at Google Scholar · View at Scopus
  39. S. J. Bromage, A. K. Lang, I. Atkinson, and R. F. Searle, “Abnormal TGFβ levels in the amniotic fluid of Down syndrome pregnancies,” The American Journal of Reproductive Immunology, vol. 44, no. 4, pp. 205–210, 2000. View at Publisher · View at Google Scholar · View at Scopus
  40. E. E. Creemers, A. J. Tijsen, and Y. M. Pinto, “Circulating microRNAs: novel biomarkers and extracellular communicators in cardiovascular disease?” Circulation Research, vol. 110, no. 3, pp. 483–495, 2012. View at Publisher · View at Google Scholar · View at Scopus
  41. L. Pigati, S. C. S. Yaddanapudi, R. Iyengar et al., “Selective release of MicroRNA species from normal and malignant mammary epithelial cells,” PLoS ONE, vol. 5, no. 10, Article ID e13515, 2010. View at Publisher · View at Google Scholar · View at Scopus
  42. R. W. K. Chiu, K. C. A. Chan, Y. Gao et al., “Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma,” Proceedings of the National Academy of Sciences of the United States of America, vol. 105, no. 51, pp. 20458–20463, 2008. View at Publisher · View at Google Scholar · View at Scopus
  43. G. J. Liao, K. C. Chan, P. Jiang et al., “Noninvasive prenatal diagnosis of fetal trisomy 21 by allelic ratio analysis using targeted massively parallel sequencing of maternal plasma DNA,” PLoS ONE, vol. 7, no. 5, Article ID e38154, 2012. View at Publisher · View at Google Scholar · View at Scopus
  44. D. W. Bianchi, L. D. Platt, J. D. Goldberg, A. Z. Abuhamad, A. J. Sehnert, and R. P. Rava, “Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing,” Obstetrics & Gynecology, vol. 119, pp. 890–901, 2012. View at Google Scholar
  45. A. J. Sehnert, B. Rhees, D. Comstock et al., “Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal blood,” Clinical Chemistry, vol. 57, no. 7, pp. 1042–1049, 2011. View at Publisher · View at Google Scholar · View at Scopus
  46. M. Stumm, M. Entezami, N. Trunk et al., “Noninvasive prenatal detection of chromosomal aneuploidies using different next generation sequencing strategies and algorithms,” Prenatal Diagnosis, vol. 32, no. 6, pp. 569–577, 2012. View at Publisher · View at Google Scholar · View at Scopus