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Related Experiment Videos

Mouse models for neural tube closure defects.

D M Juriloff1, M J Harris

  • 1Department of Medical Genetics, University of British Columbia, 6174 University Boulevard, Vancouver, British Columbia, Canada. juriloff@interchange.ubc.ca

Human Molecular Genetics
|April 18, 2000
PubMed
Summary

Neural tube defects (NTDs) like anencephaly and spina bifida are common. Mouse models reveal complex genetics and identify actin regulation as a key pathway for neural fold elevation, offering new targets for human NTD research.

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Area of Science:

  • Developmental Biology
  • Genetics
  • Teratology

Background:

  • Neural tube defects (NTDs), including anencephaly and spina bifida, affect 1 in 1000 newborns.
  • Genetic complexity underlies NTDs, though periconceptional folic acid supplementation reduces risk.
  • Over 60 mouse mutants with NTDs exist, exhibiting diverse genetic loci and inheritance patterns.

Purpose of the Study:

  • To review and analyze existing mouse models of NTDs.
  • To identify common functional pathways and genetic factors involved in neural fold elevation.
  • To explore potential therapeutic targets for human NTDs.

Main Methods:

  • Analysis of >60 mouse mutants and strains exhibiting NTDs.
  • Review of genetic heterogeneity, penetrance, and inheritance patterns in NTD models.

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  • Examination of gene functions, including those involved in actin regulation and DNA methylation.

    • Main Results:

    • Mouse NTD models frequently display exencephaly or spina bifida, indicating neural fold elevation failures.
    • Nutrient supplements (folic acid, inositol, methionine) reduce NTD risk in specific models.
    • Genes involved in actin regulation are frequently mutated in NTD models, highlighting their importance.
    • Genes with basic mitotic functions also play a role in neural fold elevation.
    • A potential link between DNA methylation and the female excess in cranial NTDs is suggested.

    Conclusions:

    • Actin regulation is a critical pathway for neural fold elevation and a promising area for human NTD gene discovery.
    • Mouse models provide valuable insights into the complex genetics and mechanisms of NTDs.
    • Further research into methylation and mitotic genes may elucidate additional NTD pathways.