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.

Maternal risk factors in young Egyptian mothers of down syndrome

We investigated the possible maternal risk factors that may increase the incidence of Down syndrome [DS] in young Egyptian mothers [younger than 35 years] especially methylene tetrahydrofolate reductase [MTHFR] enzyme C677T polymorphism. The study included 200 mothers of karyotypically ascertained non-disjunction DS attending Genetics clinic, Children's hospital, Ain Shams University [100 mothers were < 35 years and 100 mothers =/> 35 years]. 50 mothers of none-DS children served as a control group. For all cases, history was taken laying stress on: Parental ages at conception, maternal grandparent's ages at conception of mother, DS birth order, history of oral contraceptive use 6 months before conception, genital infection, vitamin supplementation and smoking or exposure to irradiation. MTHFR C677T mutational analysis was done to twenty DS mothers with ages

Does early erythropoietin therapy decrease transfusions in anemia of prematurity?

OBJECTIVE: To investigate the effect of early erythropoietin treatment on induction of erythropoiesis and the need for transfusion in Very Low Birth Weight (VLBW) infants with acute neonatal problems. METHODS: The study group consisted of 14 VLBW prematures with gestational ages less than 32 weeks who were given subcutaneous erythropoietin (600 U/kg per week) and oral iron (3 mg/kg per day) during the first 7-8 weeks of their life, while 13 other VLBW prematures that were given placebo constituted the control group. Weekly hematocrit, (Hct) reticulocyte (Ret) values and the volume of blood drawn and transfused were recorded in the both groups. RESULTS: The groups were comparable regarding with birth weights and gestational ages. The volume of the blood drawn (76.8 +/- 42.5 and 37.0 +/- 15.2) was higher and the volume of the transfusions (51.84 +/- 49.30 and 68.84 +/- 41.2) was lower in the study group but the differences between the groups were not significant (p>0.05). The hematocrit, the reticulocyte and the ferritin values were similar in both the groups at the end of the therapy. CONCLUSION: Under the neonatal intensive care circumstances of developing countries where blood volumes needed for laboratory analysis are still very high, phlebotomy losses can not be avoided. Thus early erythropoietin and iron therapy at these doses are not effective in decreasing the need for transfusion and induction of endogenous erythropoiesis.