Modelling Spina Bifida Malformation Using Human Induced Pluripotent Stem Cells

Spina Bifida (SB) is a severe congenital disease, associated with the failure of neural tube closure during early embryonic development.

         Periconceptional folic acid supplementation greatly reduces the risk of neural tube defects. However, molecular mechanisms behind the disease and the preventive role of folic acid are unclear.

            Here, we use human induced pluripotent stem cells derived from Spina bifida foetal cells to study the pathophysiology of the disease and explore the effect of folic acid treatment. We report that folic acid treatment in Spina bifida model is necessary for the proper formation of early neural tube structures and mesodermal derivatives.

            In conclusion, we present set-up of human Spina Bifida cell model and provide evidence that it is a powerful tool to investigate molecular mechanism of neural tube defects and test drugs for therapeutic approaches.