INTRODUCTION: Neural Tube Defect (NTD) is one of the most common congenital malformations.The formation of the extracellular matrix (ECM) plays an important role in migrating neural crest cells. Matrix metalloproteinases (MMPs) play a major role in cell migration in ECM organization. This study aimed to investigate the roles of MMP-1, -2, and 9 gene expressions as biomarkers for NTD.
METHODS: Peripheral blood samples and NTD tissues were collected from 40 newborn babies diagnosed with NTD and peripheral blood samples from only 20 healthy babies were taken for control. After total RNA isolation from blood and tissues, MMP-1,-2,-9 gene expressions were analyzed by Quantitative Real-Time PCR (RT-PCR).
RESULTS: There was no difference between the control group and the NTD group in terms of MMP expressions in blood samples (p>0.05). A statistically significantly higher MMP-1 expression was found in Meningocele and Myeloschisis than in Encephalocele (p=0.014). A significant difference was found between the tissue and blood samples of the Meningomyelocele patient group regarding MMP-9 expression (p=0.019). There was no significant relationship between Ca2+, B12 and Folate levels, NTD and MMP genes expressions (p>0.05).
DISCUSSION AND CONCLUSION: Even though MMP genes were not different between control and NTD groups, they were found to vary between different subgroups and can serve as biomarkers.