Defects of receptor-mediated low density lipoprotein catabolism in homozygous familial hypercholesterolemia and hypothyroidism in vivo.
- 1 April 1981
- journal article
- research article
- Published by Proceedings of the National Academy of Sciences in Proceedings of the National Academy of Sciences
- Vol. 78 (4) , 2591-2595
- https://doi.org/10.1073/pnas.78.4.2591
Abstract
The role of low density lipoprotein (LDL) receptors, in the pathogenesis of hereditary and acquired forms of hypercholesterolemia, was investigated in vivo by simultaneously determining total and receptor-independent LDL catabolism with 125I-labeled LDL and 131I-labeled LDL coupled with cyclohexanedione. Receptor-mediated catabolism of LDL, determined as the difference between the turnover of 125I and 131I, was virtually absent in 2 homozygotes wih familial hypercholesterolemia and markedly reduced in a hypothyroid patient. Treatment of the latter with L-thyroxine markedly stimulated receptor-mediated catabolism and reduced LDL levels as did cholestyramine administration in a control subject. Reduction of LDL levels by plasma exchange in a control subject and homozygote had no such effect. An intrinsic and almost total defect of receptor-mediated LDL catabolism evidently exists in homozygous familial hypercholesterolemia, and an analogous but reversible abnormality in hypothyroidism is demonstrated.This publication has 16 references indexed in Scilit:
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