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Related Experiment Videos

A genetic therapy for familial hypercholesterolemia.

D A Dichek1, G L Bratthauer, Z H Beg

  • 1Molecular Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892.

Transactions of the Association of American Physicians
|January 1, 1990
PubMed
Summary

Researchers explored gene therapy for familial hypercholesterolemia using WHHL rabbits. Autologous fibroblasts successfully expressed LDL receptors in vivo, showing potential for treating this genetic condition.

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Area of Science:

  • Cardiovascular Genetics
  • Gene Therapy
  • Animal Models of Human Disease

Background:

  • Familial hypercholesterolemia (FH) is a genetic disorder causing high LDL cholesterol.
  • The Watanabe Heritable Hyperlipidemic (WHHL) rabbit is a validated animal model for FH.
  • Current FH treatments often require lifelong management.

Purpose of the Study:

  • To assess the feasibility of gene therapy for FH using the WHHL rabbit model.
  • To determine if autologous fibroblasts can be genetically modified to express functional LDL receptors.
  • To evaluate the in vivo survival and expression of these modified cells.

Main Methods:

  • WHHL rabbit skin fibroblasts were transduced with a retroviral vector carrying a normal human LDL receptor gene.

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  • In vitro correction of the genetic defect was confirmed.
  • Genetically modified autologous fibroblasts were reimplanted into donor WHHL rabbits.

    • Main Results:

    • In vitro studies confirmed successful correction of the genetic defect in WHHL rabbit fibroblasts.
    • Reimplanted fibroblasts survived in vivo for up to 4 weeks.
    • The recombinant LDL receptors were expressed by the surviving cells in vivo.

    Conclusions:

    • In vivo expression of functional LDL receptors by autologous, genetically modified cells is achievable.
    • This approach shows promise as a potential genetic therapy for familial hypercholesterolemia.
    • Further optimization, including increased cell numbers and enhanced in vivo survival, is needed for clinical application.