Closing in on Mechanisms of Open Neural Tube Defects.

Sangmoon Lee, Joseph G Gleeson

Journal: Trends in neurosciences 2021;43(7):519-532

PMID: 32423763

Free Full Text on PubMed Central View on PubMed

Abstract

Neural tube defects (NTDs) represent a failure of the neural plate to complete the developmental transition to a neural tube. NTDs are the most common birth anomaly of the CNS. Following mandatory folic acid fortification of dietary grains, a dramatic reduction in the incidence of NTDs was observed in areas where the policy was implemented, yet the genetic drivers of NTDs in humans, and the mechanisms by which folic acid prevents disease, remain disputed. Here, we discuss current understanding of human NTD genetics, recent advances regarding potential mechanisms by which folic acid might modify risk through effects on the epigenome and transcriptome, and new approaches to study refined phenotypes for a greater appreciation of the developmental and genetic causes of NTDs.

Address: Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA 92025, USA.; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA 92025, USA. Electronic address: [email protected].

DOI: 10.1016/j.tins.2020.04.009

Link outs

Free resources

Full Text Sources:

Medical:

https://medlineplus.gov/neuraltubedefects.html

Molecular Biology Databases:

https://data.niaid.nih.gov/resources?id=phs002591

Subscription / membership required

Full Text Sources:

MeSH Terms: Folic Acid, Humans, Neural Tube Defects