Cellular mechanisms underlying Pax3-related neural tube defects and their prevention by folic acid.

ABSTRACT: Neural tube defects (NTDs), including spina bifida and anencephaly, are among the most common birth defects worldwide, but their underlying genetic and cellular causes are not well understood. Some NTDs are preventable by supplemental folic acid. However, despite widespread use of folic acid supplements and implementation of food fortification in many countries, the protective mechanism is unclear. Pax3 mutant (splotch; Sp2H ) mice provide a model in which NTDs are preventable by folic acid and exacerbated by maternal folate deficiency. Here, we found that cell proliferation was diminished in the dorsal neuroepithelium of mutant embryos, corresponding to the region of abolished Pax3 function. This was accompanied by premature neuronal differentiation in the prospective midbrain. Contrary t

SUBMITTER: Sudiwala S 

PROVIDER: S-EPMC6899032 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature