Key result
Mutant apoprotein E from six of nine patients with familial dysbetalipoproteinemia showed binding affinities for LDL receptors that were reduced by >98% compared to normal apoprotein E.
Why the study?
Does mutant apoprotein E from patients with familial dysbetalipoproteinemia have deficient binding to LDL receptors compared to normal apoprotein E?
Population
Apo E isolated from 9 patients with familial dysbetalipoproteinemia and 8 control subjects with primary…
Comparison
Apo E/phospholipid complexes from patients with… vs Apo E/phospholipid complexes from control…
Design
Preclinical
Authors
Loading...
Defective apo E binding may drive remnant accumulation in most cases; leaves open alternative mechanisms in a subset and requires human validation.
Case-Control (n=17)
Does mutant apoprotein E from patients with familial dysbetalipoproteinemia have deficient binding to LDL receptors compared to normal apoprotein E?
The study demonstrates that familial dysbetalipoproteinemia is heterogeneous, with most patients having a mutant apo E that fails to bind LDL receptors, while a subset has normal binding, suggesting an alternative mechanism for remnant accumulation.
Schneider et al. (1981) conducted a case-control in Familial dysbetalipoproteinemia (n=17). Mutant apoprotein E (apo E-D) vs. Normal apoprotein E was evaluated on Binding affinity of apoprotein E to low density lipoprotein (LDL) receptors. Mutant apoprotein E from six of nine patients with familial dysbetalipoproteinemia showed binding affinities for LDL receptors that were reduced by >98% compared to normal apoprotein E.