Detection of familial hypercholesterolemia by assaying functional low-density-lipoprotein receptors on lymphocytes.

@article{Cuthbert1986DetectionOF,
  title={Detection of familial hypercholesterolemia by assaying functional low-density-lipoprotein receptors on lymphocytes.},
  author={Jennifer A. Cuthbert and Cara A East and David W Bilheimer and Peter E Lipsky},
  journal={The New England journal of medicine},
  year={1986},
  volume={314 14},
  pages={879-83}
}
In familial hypercholesterolemia, structural and functional abnormalities of the receptor for low-density lipoprotein (LDL) lead to hypercholesterolemia and premature atherosclerosis. We have developed a simplified method to identify LDL-receptor defects in peripheral-blood lymphocytes. When lymphocytes are cultured in lipoprotein-depleted medium and endogenous sterol biosynthesis is suppressed with mevinolin, mitogen-stimulated proliferation of lymphocytes is dependent on an exogenous source… CONTINUE READING