The Role of Matrix Metalloproteinase as Biomarkers for Neural Tube Defect

Abstract

Neural Tube Defect (NTD) is one of the most common congenital malformations. It is crucial to determine the prognostic, predictive, or therapeutic genetic factors for preventing NTD. The formation of the extracellular matrix (ECM) plays an essential role in migrating neural crest cells. Matrix metalloproteinases (MMPs) play a significant role in cell migration in ECM organization. The role of expressions and activation of MMP in NTD is unknown. This study aimed to investigate the roles of MMP-1,-2, and 9 gene expressions as biomarkers for NTD. Peripheral blood samples and NTD tissues were collected from 40 newborn babies diagnosed with NTD, which were also divided into subgroups based on pathology, 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). 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). 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. © 2023, Yuzuncu Yil Universitesi Tip Fakultesi. All rights reserved.