Fetal neural tube stem cells from Pax3 mutant mice proliferate, differentiate, and form synaptic connections when stimulated with folic acid

Stem Cells Dev. 2012 Jan 20;21(2):321-30. doi: 10.1089/scd.2011.0100. Epub 2011 Jun 9.

Abstract

Although maternal intake of folic acid (FA) prevents neural tube defects in 70% of the population, the exact mechanism of prevention has not been elucidated. We hypothesized that FA affects neural stem cell (NSC) proliferation and differentiation. This hypothesis was examined in a folate-responsive spina bifida mouse model, Splotch (Sp(-/-)), which has a homozygous loss-of-function mutation in the Pax3 gene. Neurospheres were generated with NSCs from the lower lumbar neural tube of E10.5 wild-type (WT) and Sp(-/-) embryos, in the presence and absence of FA. In the absence of FA, the number of neurospheres generated from Sp(-/-) embryos compared with WT was minimal (P<0.05). Addition of FA to Sp(-/-) cultures increased the expression of a Pax3 downstream target, fgfr4, and rescued NSC proliferative potential, as demonstrated by a significant increase in neurosphere formation (P<0.01). To ascertain if FA affected cell differentiation, FA-stimulated Sp(-/-) neurospheres were allowed to differentiate in the continued presence or absence of FA. Neurospheres from both conditions expressed multi-potent stem cell characteristics and the same differentiation potential as WT. Further, multiple neurospheres from both WT and FA-stimulated Sp(-/-) cell cultures formed extensive synaptic connections. On the whole, FA-mediated rescue of neural tube defects in Sp(-/-) embryos promotes NSC proliferation at an early embryonic stage. FA-stimulated Sp(-/-) neurospheres differentiate and form synaptic connections, comparable to WT.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Cell Differentiation / drug effects
  • Cell Proliferation / drug effects
  • Disease Models, Animal
  • Embryo, Mammalian
  • Fetal Stem Cells / drug effects*
  • Fetal Stem Cells / pathology
  • Fetus
  • Folic Acid / pharmacology*
  • Gene Expression Regulation, Developmental* / drug effects
  • Gene Knockout Techniques
  • Homozygote
  • Mice
  • Mice, Knockout
  • Neural Stem Cells / drug effects*
  • Neural Stem Cells / pathology
  • Neural Tube / drug effects*
  • Neural Tube / embryology
  • Neural Tube / pathology
  • Neurons / drug effects
  • Neurons / pathology
  • PAX3 Transcription Factor
  • Paired Box Transcription Factors / deficiency
  • Paired Box Transcription Factors / genetics
  • Receptor, Fibroblast Growth Factor, Type 4 / genetics
  • Receptor, Fibroblast Growth Factor, Type 4 / metabolism
  • Signal Transduction / drug effects
  • Signal Transduction / genetics
  • Spinal Dysraphism / drug therapy*
  • Spinal Dysraphism / embryology
  • Spinal Dysraphism / genetics
  • Spinal Dysraphism / pathology
  • Synapses / drug effects
  • Synapses / physiology

Substances

  • PAX3 Transcription Factor
  • Paired Box Transcription Factors
  • Pax3 protein, mouse
  • Folic Acid
  • Fgfr4 protein, mouse
  • Receptor, Fibroblast Growth Factor, Type 4