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
Volume 4, Issue 3, June 2016, Pages: 16-19
Received: Mar. 15, 2016;
Accepted: Apr. 11, 2016;
Published: May 27, 2016
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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
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.
Ajit Kumar Saxena,
Ramanuj Kumar Gupta,
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.
Vol. 4, No. 3,
2016, pp. 16-19.
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