Identification of Novel Mutations in Amniotic Fluid Derived Stem Cells Collected from the Mothers Having Case of Neural Tube Defects

Ajit Kumar Saxena; Madhu Jain; Meenakshi Tiwari; Ramanuj Kumar Gupta

doi:doi:10.11648/j.ijgg.20160403.11

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Identification of Novel Mutations in Amniotic Fluid Derived Stem Cells Collected from the Mothers Having Case of Neural Tube Defects

Ajit Kumar Saxena, Madhu Jain, Meenakshi Tiwari, Ramanuj Kumar Gupta

Published in International Journal of Genetics and Genomics (Volume 4, Issue 3)

Received: 15 March 2016 Accepted: 11 April 2016 Published: 27 May 2016

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Abstract

Neural tube defects (NTDs) are severe congenital malformations of central nervous system that have high prevalence with severe consequences. The etiology of NTDs involves interactions of both genetic and epigenetic factors and their complex interactions with stems cells during organogenesis. Despite of recent advances, there has been limited progress in delineating the molecular basis of NTDs that can pave way for prevention, diagnostics and therapeutics. We have previously identified a role for stem cell markers Oct 4, Sox 2 and Nanog 3 in neural tube defect affected pregnancies. In the present report we identified mutations in stem cell pluripotency markers from amniotic fluid derived stem cells isolated from women with NTD affected pregnancy. Oct 4 and Nanog 3 were studied to find a correlation with the disease and its severity. Interestingly, sequence based DNA analysis revealed two different forms of nucleotide changes that were observed in different clinical conditions of NTDs. The mutation in Oct 4 at position 183 G →T and in the sequence of Nanog 3 at ⁶³CAAAAA ACA⁷² to ³⁸ACAGTCTCT⁴⁷ appears in the cases of anencephaly and meningomyelocele respectively in comparison to control. These findings suggest that these mutational spectra might be responsible for the alterations in the developmental process during embryogenesis leading to NTDs.

Published in	International Journal of Genetics and Genomics (Volume 4, Issue 3)
DOI	10.11648/j.ijgg.20160403.11
Page(s)	16-19
Creative Commons	This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited.
Copyright	Copyright © The Author(s), 2016. Published by Science Publishing Group

Keywords

Neural Tube Defect, Stem Cell Markers, Oct 4, Nanog 3

References

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[2]	Cabrera, R. M., Hill, D. S, Etheredge, A. J. and Finnell, R. H. (2004). Investigations into the etiology of neural tube defects. Birth Defects Res. C. Embryo Today 72: 330-344.
[3]	Detrait, E. R., George, T. M., Etchevers, H. C., Gilbert, J. R., et. al. (2005). Human neural tube defects: developmental biology, epidemiology, and genetics. Neurotoxicol. Teratol. 27: 515-524.
[4]	Beaudin, A. E. and Stover, P. J. (2009). Insights into metabolic mechanisms underlying folate-responsive neural tube defects: a minireview. Birth Defects Res. A Clin. Mol. Teratol. 85: 274-284.
[5]	Motohashi, T., Aoki, H., Chiba, K., Yoshimura, N., et al. (2007). Multipotent cell fate of neural crest-like cells derived from embryonic stem cells. Stem Cells 25: 402-410.
[6]	Wang, Z., Oron, E., Nelson, B., Razis, S., Ivanova, N. (2012). Distinct lineage specification roles for NANOG, OCT4, and SOX2 in human embryonic stem cells. Cell Stem Cell 10: 440-54.
[7]	Kumar, V., Singh, A., Sharma, S. P., Srivastava, A., Saxena, A., Gangopadhyay, A. N. (2012). Clinical spectrum of neural tube defects with special reference to karyotyping study. J. Pediatr. Neurosci. 7: 82-4.
[8]	Saxena, A. K., Pandey, S., Pandey, L. K. (2013). Genetic diversity of stem cells and their functional impact on the development of neural tube defects in Eastern population of India. Genet. Mol. Res. 15: 2380-90.
[9]	Wu, G. and Schöler, H. R. Role of Oct 4 in the early embryo development (2014). Cell Regen (Lond). 29: 3 (1): 7.
[10]	Guseva, D., Rizvanov, A. A., Salafutdinov, I. I., Kudryashova, N. V. et. al. (2014) Over-expression of Oct 4 and Sox 2 transcription factors enhances differentiation of human umbilical cord blood cells in vivo. Biochem Biophys Res Commun. 451: 503-9.
[11]	De Veale, B., Brokhman, I, Mohseni, P., Babak, T., et. al.. (2013) Oct 4 is required ~E7.5 for proliferation in the primitive streak. PLoS Genet.; 9 (11): e1003957.
[12]	Chambners, I., Colby, D., Robertson, M., Nochols, J, Lee. S, Tweedie. S, and Smith, A., 2003. Functional expression cloning of Nanog, a pluripotency sustaining factor in embryonic stem cells. Cell 113: 643-655.
[13]	Meinhardt, A., Eberle, D., Tazaki, A., Ranga, A., et. al. (2014) 3D reconstitution of the patterned neural tube from embryonic stem cells. Stem Cell Reports 6: 987-99.
[14]	Zbinden, M., Duquet, A., Lorente-Trigos, A., Ngwabyt, S. N., Borges, I., Ruiz, i. Altaba, A. (2010). NANOG regulates glioma stem cells and is essential in vivo acting in a cross-functional network with GLI1 and p53. EMBO. J. 4: 2659-74.

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APA Style

Ajit Kumar Saxena, Madhu Jain, Meenakshi Tiwari, Ramanuj Kumar Gupta. (2016). Identification of Novel Mutations in Amniotic Fluid Derived Stem Cells Collected from the Mothers Having Case of Neural Tube Defects. International Journal of Genetics and Genomics, 4(3), 16-19. https://doi.org/10.11648/j.ijgg.20160403.11

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ACS Style

Ajit Kumar Saxena; Madhu Jain; Meenakshi Tiwari; Ramanuj Kumar Gupta. Identification of Novel Mutations in Amniotic Fluid Derived Stem Cells Collected from the Mothers Having Case of Neural Tube Defects. Int. J. Genet. Genomics 2016, 4(3), 16-19. doi: 10.11648/j.ijgg.20160403.11

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AMA Style

Ajit Kumar Saxena, Madhu Jain, Meenakshi Tiwari, Ramanuj Kumar Gupta. Identification of Novel Mutations in Amniotic Fluid Derived Stem Cells Collected from the Mothers Having Case of Neural Tube Defects. Int J Genet Genomics. 2016;4(3):16-19. doi: 10.11648/j.ijgg.20160403.11

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@article{10.11648/j.ijgg.20160403.11,
  author = {Ajit Kumar Saxena and Madhu Jain and Meenakshi Tiwari and Ramanuj Kumar Gupta},
  title = {Identification of Novel Mutations in Amniotic Fluid Derived Stem Cells Collected from the Mothers Having Case of Neural Tube Defects},
  journal = {International Journal of Genetics and Genomics},
  volume = {4},
  number = {3},
  pages = {16-19},
  doi = {10.11648/j.ijgg.20160403.11},
  url = {https://doi.org/10.11648/j.ijgg.20160403.11},
  eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ijgg.20160403.11},
  abstract = {Neural tube defects (NTDs) are severe congenital malformations of central nervous system that have high prevalence with severe consequences. The etiology of NTDs involves interactions of both genetic and epigenetic factors and their complex interactions with stems cells during organogenesis. Despite of recent advances, there has been limited progress in delineating the molecular basis of NTDs that can pave way for prevention, diagnostics and therapeutics. We have previously identified a role for stem cell markers Oct 4, Sox 2 and Nanog 3 in neural tube defect affected pregnancies. In the present report we identified mutations in stem cell pluripotency markers from amniotic fluid derived stem cells isolated from women with NTD affected pregnancy. Oct 4 and Nanog 3 were studied to find a correlation with the disease and its severity. Interestingly, sequence based DNA analysis revealed two different forms of nucleotide changes that were observed in different clinical conditions of NTDs. The mutation in Oct 4 at position 183 G →T and in the sequence of Nanog 3 at 63CAAAAA ACA72 to 38ACAGTCTCT47 appears in the cases of anencephaly and meningomyelocele respectively in comparison to control. These findings suggest that these mutational spectra might be responsible for the alterations in the developmental process during embryogenesis leading to NTDs.},
 year = {2016}
}

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TY  - JOUR
T1  - Identification of Novel Mutations in Amniotic Fluid Derived Stem Cells Collected from the Mothers Having Case of Neural Tube Defects
AU  - Ajit Kumar Saxena
AU  - Madhu Jain
AU  - Meenakshi Tiwari
AU  - Ramanuj Kumar Gupta
Y1  - 2016/05/27
PY  - 2016
N1  - https://doi.org/10.11648/j.ijgg.20160403.11
DO  - 10.11648/j.ijgg.20160403.11
T2  - International Journal of Genetics and Genomics
JF  - International Journal of Genetics and Genomics
JO  - International Journal of Genetics and Genomics
SP  - 16
EP  - 19
PB  - Science Publishing Group
SN  - 2376-7359
UR  - https://doi.org/10.11648/j.ijgg.20160403.11
AB  - Neural tube defects (NTDs) are severe congenital malformations of central nervous system that have high prevalence with severe consequences. The etiology of NTDs involves interactions of both genetic and epigenetic factors and their complex interactions with stems cells during organogenesis. Despite of recent advances, there has been limited progress in delineating the molecular basis of NTDs that can pave way for prevention, diagnostics and therapeutics. We have previously identified a role for stem cell markers Oct 4, Sox 2 and Nanog 3 in neural tube defect affected pregnancies. In the present report we identified mutations in stem cell pluripotency markers from amniotic fluid derived stem cells isolated from women with NTD affected pregnancy. Oct 4 and Nanog 3 were studied to find a correlation with the disease and its severity. Interestingly, sequence based DNA analysis revealed two different forms of nucleotide changes that were observed in different clinical conditions of NTDs. The mutation in Oct 4 at position 183 G →T and in the sequence of Nanog 3 at 63CAAAAA ACA72 to 38ACAGTCTCT47 appears in the cases of anencephaly and meningomyelocele respectively in comparison to control. These findings suggest that these mutational spectra might be responsible for the alterations in the developmental process during embryogenesis leading to NTDs.
VL  - 4
IS  - 3
ER  -

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Author Information

Ajit Kumar Saxena

Department of Pathology/Laboratory Medicine, All India Institute of Medical Sciences, Patna, Bihar, India
Madhu Jain

Department of Obstetrics and Gynecology, Institute of Medical Sciences, Banaras Hindu University, Varanasi, India
Meenakshi Tiwari

Department of Pathology/Laboratory Medicine, All India Institute of Medical Sciences, Patna, Bihar, India
Ramanuj Kumar Gupta

Department of Pathology/Laboratory Medicine, All India Institute of Medical Sciences, Patna, Bihar, India

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APA Style

Ajit Kumar Saxena, Madhu Jain, Meenakshi Tiwari, Ramanuj Kumar Gupta. (2016). Identification of Novel Mutations in Amniotic Fluid Derived Stem Cells Collected from the Mothers Having Case of Neural Tube Defects. International Journal of Genetics and Genomics, 4(3), 16-19. https://doi.org/10.11648/j.ijgg.20160403.11

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ACS Style

Ajit Kumar Saxena; Madhu Jain; Meenakshi Tiwari; Ramanuj Kumar Gupta. Identification of Novel Mutations in Amniotic Fluid Derived Stem Cells Collected from the Mothers Having Case of Neural Tube Defects. Int. J. Genet. Genomics 2016, 4(3), 16-19. doi: 10.11648/j.ijgg.20160403.11

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AMA Style

Ajit Kumar Saxena, Madhu Jain, Meenakshi Tiwari, Ramanuj Kumar Gupta. Identification of Novel Mutations in Amniotic Fluid Derived Stem Cells Collected from the Mothers Having Case of Neural Tube Defects. Int J Genet Genomics. 2016;4(3):16-19. doi: 10.11648/j.ijgg.20160403.11

Copy | Download

@article{10.11648/j.ijgg.20160403.11,
  author = {Ajit Kumar Saxena and Madhu Jain and Meenakshi Tiwari and Ramanuj Kumar Gupta},
  title = {Identification of Novel Mutations in Amniotic Fluid Derived Stem Cells Collected from the Mothers Having Case of Neural Tube Defects},
  journal = {International Journal of Genetics and Genomics},
  volume = {4},
  number = {3},
  pages = {16-19},
  doi = {10.11648/j.ijgg.20160403.11},
  url = {https://doi.org/10.11648/j.ijgg.20160403.11},
  eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ijgg.20160403.11},
  abstract = {Neural tube defects (NTDs) are severe congenital malformations of central nervous system that have high prevalence with severe consequences. The etiology of NTDs involves interactions of both genetic and epigenetic factors and their complex interactions with stems cells during organogenesis. Despite of recent advances, there has been limited progress in delineating the molecular basis of NTDs that can pave way for prevention, diagnostics and therapeutics. We have previously identified a role for stem cell markers Oct 4, Sox 2 and Nanog 3 in neural tube defect affected pregnancies. In the present report we identified mutations in stem cell pluripotency markers from amniotic fluid derived stem cells isolated from women with NTD affected pregnancy. Oct 4 and Nanog 3 were studied to find a correlation with the disease and its severity. Interestingly, sequence based DNA analysis revealed two different forms of nucleotide changes that were observed in different clinical conditions of NTDs. The mutation in Oct 4 at position 183 G →T and in the sequence of Nanog 3 at 63CAAAAA ACA72 to 38ACAGTCTCT47 appears in the cases of anencephaly and meningomyelocele respectively in comparison to control. These findings suggest that these mutational spectra might be responsible for the alterations in the developmental process during embryogenesis leading to NTDs.},
 year = {2016}
}

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TY  - JOUR
T1  - Identification of Novel Mutations in Amniotic Fluid Derived Stem Cells Collected from the Mothers Having Case of Neural Tube Defects
AU  - Ajit Kumar Saxena
AU  - Madhu Jain
AU  - Meenakshi Tiwari
AU  - Ramanuj Kumar Gupta
Y1  - 2016/05/27
PY  - 2016
N1  - https://doi.org/10.11648/j.ijgg.20160403.11
DO  - 10.11648/j.ijgg.20160403.11
T2  - International Journal of Genetics and Genomics
JF  - International Journal of Genetics and Genomics
JO  - International Journal of Genetics and Genomics
SP  - 16
EP  - 19
PB  - Science Publishing Group
SN  - 2376-7359
UR  - https://doi.org/10.11648/j.ijgg.20160403.11
AB  - Neural tube defects (NTDs) are severe congenital malformations of central nervous system that have high prevalence with severe consequences. The etiology of NTDs involves interactions of both genetic and epigenetic factors and their complex interactions with stems cells during organogenesis. Despite of recent advances, there has been limited progress in delineating the molecular basis of NTDs that can pave way for prevention, diagnostics and therapeutics. We have previously identified a role for stem cell markers Oct 4, Sox 2 and Nanog 3 in neural tube defect affected pregnancies. In the present report we identified mutations in stem cell pluripotency markers from amniotic fluid derived stem cells isolated from women with NTD affected pregnancy. Oct 4 and Nanog 3 were studied to find a correlation with the disease and its severity. Interestingly, sequence based DNA analysis revealed two different forms of nucleotide changes that were observed in different clinical conditions of NTDs. The mutation in Oct 4 at position 183 G →T and in the sequence of Nanog 3 at 63CAAAAA ACA72 to 38ACAGTCTCT47 appears in the cases of anencephaly and meningomyelocele respectively in comparison to control. These findings suggest that these mutational spectra might be responsible for the alterations in the developmental process during embryogenesis leading to NTDs.
VL  - 4
IS  - 3
ER  -

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