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 <sup>63</sup>CAAAAA ACA<sup>72</sup> to <sup>38</sup>ACAGTCTCT<sup>47</sup> 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.
Highlights
Neural tube defects (NTDs) are severe congenital malformations of central nervous system having high prevalence of birth defect
Present study was undertaken to find out nucleotide changes in stem cell markers namely Oct 4 and Nanog 3 based on the study of DNA sequencing analysis from amniotic fluid collected from the mothers having tendency of NTDs
The present finding suggests an alteration at the levels of Oct 4 and Nanog 3 in the neural tube defect affected pregnancies might be responsible for altered functioning of stem cell during early embryogenesis
Summary
Neural tube defects (NTDs) are severe congenital malformations of central nervous system having high prevalence of birth defect. Our efforts has been continued to gain new insight in the understanding of the developmental process involving genetic and epigenetic factors regulating folding of International Journal of Genetics and Genomics 2016; 4(3): 16-19 neural tube during organogenesis In this regard, we previously identified chromosomal abnormalities in the affected pregnancies having a variety of NTDs [7]. Our group for the first time demonstrated genetic heterogeneity of stem cells in clinically diagnosed NTDs and their correlation with the severity of the disease [8] These findings generated further curiosity to understand the role of stem cell gene mutations in the cases of anencephaly and meningomyelocele to explore the etiopathology of “birth defect”. Present study was undertaken to find out nucleotide changes (mutation) in stem cell markers namely Oct 4 and Nanog 3 based on the study of DNA sequencing analysis from amniotic fluid collected from the mothers having tendency of NTDs
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