Mitochondrial dysfunction in neural tube defects / 国际儿科学杂志

ABSTRACT

Neural tube defects are a group of severe congenital malformations, including anencephaly, spina bifida, and encephalocele, which happen when neural tube fails to achieve proper closure during early embryogenesis.Mitochondria are an important site for biological oxidation and substance metabolism, as well as an important component in maintaining homeostasis of the intracellular environment.Mitochondria are also involved in the process of oocyte maturation, fertilization and embryonic development.Normal function of mitochondria is the key to the normal development of embryos.Therefore, mitochondrial dysfunction may be one of the mechanisms of neural tube closure failure.Slc25a32, SHMT2, MTHFD2/MTHFD2L, MTHFD1L and glycine cleavage system(GCS)are a series of key molecules of the mitochondrial one-carbon metabolic pathway.This paper reviews the research progress of mitochondrial dysfunction in the pathogenesis of neural tube malformation by starting from several key molecules and combining with the two main metabolic pathways of one-carbon metabolic chain and oxidative respiratory chain.