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Related Experiment Videos

Role of cholesterol in embryonic development.

C Roux1, C Wolf, N Mulliez

  • 1Laboratoire d'Embryologie Pathologique Expérimentale, CHU Saint-Antoine, Paris, France. chroux@ccr.jussieu.fr

The American Journal of Clinical Nutrition
|May 9, 2000
PubMed
Summary

Cholesterol synthesis inhibitors cause birth defects in rats, modeling Smith-Lemli-Opitz syndrome. This highlights cholesterol

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Area of Science:

  • Biochemistry
  • Developmental Biology
  • Genetics

Background:

  • Distal inhibitors of cholesterol synthesis are teratogenic in rats.
  • These inhibitors cause holoprosencephalic brain anomalies, and sometimes limb and genital malformations.
  • The animal model closely resembles Smith-Lemli-Opitz syndrome, a genetic disorder.

Purpose of the Study:

  • To investigate the teratogenic effects of cholesterol synthesis inhibitors in rats.
  • To establish a potential animal model for Smith-Lemli-Opitz syndrome.
  • To explore the role of cholesterol in embryonic development and its relation to the sonic hedgehog (Shh) gene.

Main Methods:

  • Administration of AY 9944, BM 15766, and triparanol to rats.
  • Gas chromatography-mass spectrometry (GC-MS) for sterol analysis.

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  • Comparison of animal model phenotypes and sterol profiles with human Smith-Lemli-Opitz syndrome patients.

    • Main Results:

    • Inhibitors induced holoprosencephaly and other developmental anomalies in rats.
    • GC-MS revealed hypocholesterolemia and precursor accumulation in treated rats.
    • Sterol profiles in rats mirrored those in Smith-Lemli-Opitz syndrome patients, with 7-dehydrocholesterol accumulation.

    Conclusions:

    • The studied rat model accurately reflects Smith-Lemli-Opitz syndrome.
    • Cholesterol is crucial for embryonic development, impacting Shh protein function.
    • Further research is needed to clarify the precise link between Shh dysfunction and observed malformations.