Molecular Genetics of Familial Hypercholesterolemia

  • Katriina Aalto-Setälä
  • Kimmo Kontula
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 285)


More than fifty years years ago first reports of an inherited disease with cholesterol clustering in tendons and the presence of coronary heart disease at an early age were reported1. This disease, called familial hypercholesterolemia (FH), has been found to be a single-gene, autosomally dominantly inherited disease2. The cause of FH has been demonstrated to be a defect in the amount or functioning of low density lipoprotein (LDL) receptors2. The function of these receptors is to carry cholesterol-rich particles from the bloodstream into hepatocytes and peripheral cells for synthesis of cell membranes and steroid hormones3.


Familial Hypercholesterolemia Familial Hypercholesterolemia Familial Hypercholesterolemia Patient Finnish Type Inframe Stop Codon 
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Copyright information

© Plenum Press, New York 1990

Authors and Affiliations

  • Katriina Aalto-Setälä
    • 1
  • Kimmo Kontula
    • 1
  1. 1.Institute of BiotechnologyUniversity of HelsinkiHelsinkiFinland

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