Investigation of SLC30A4 and SLC39A14 Zinc Transporter Gene’s Mutations in the Pathogenesis of Neural Tube Defects in Setif, Algeria

Aims: This study was designed to investigate a common polymorphism in the exon 5 of the solute carrier SLC30A4 (ZNT4) gene 915 T-C in a group of mothers with neural tube defects (NTDs) babies compared to healthy controls in Setif region of Algeria, as well as the detection of a pathogenic mutation of the SLC39A14 (ZIP 14) gene in the NTD group.

Methodology: The case-control study, included 94 healthy mothers and 88 mothers with previous NTDs child; aged between 24 and 48 years. Peripheric blood DNA extraction was done by phenol-chloroform method. T915C polymorphism in ZnT4 gene was analyzed by polymerase chain reaction. Furthermore, sequencing of promoter 1: 333 base pairs of ZIP 14 gene was investigated. Odds ratio and Confidence Interval were calculated.

Results: Our results revealed that homozygous mutant (CC) carriers in the control group were 6%, and in the NTDs mothers it was 7%, with a risk of 0.97 (CI 95%: (0.29- 3.26). The difference between the allelic frequency of the allele C among NTD s mothers compared to control mothers was not significant (Odds ratio 0.9, CI: 0.57 - 1.43). Sequencing of ZIP 14 gene didn’t show any mutation and alteration in mothers with a previous NTD child.

Conclusion: The majority of pregnancies carrying neural tube abnormalities occur in Algerian mothers without previous NTDs cases. Furthermore, despite the lack of a relationship between zinc transporter genes and NTDs in our study, further investigations focusing on the molecular mechanisms and relevance of nutritional zinc status in relation with these malformations should be considered, attempting to find some highlights about pathogenesis of these defects in our country.