Key result
ApoA5 S19W mutation linked to hyperlipidemia in patients with the ApoE 2/2 phenotype.
Why the study?
Individuals with the apo E 2/2 phenotype are usually normolipidemic, but hyperlipidemia can occur when combined with other factors such as hyperinsulinemia, diabetes mellitus, thyroid dysfunction, or steroid treatment.
Observational
Apo E alleles may modulate TRL clearance; leaves open any role in guiding lipid therapy or risk prediction.
Apolipoprotein (apo) E, an arginine-rich glycoprotein with a molecular mass of 34 kDa, is localized on chylomicrons, VLDL, intermediate-density lipoprotein, and HDL particles. Apo E is important for the regulation of triglyceride-rich lipoproteins in humans and binds to the VLDL receptor, LDL receptor, and LDL-receptor-related protein. This process allows apo E to compensate partially for the function of defective apo B-100 in humans (1). There are three different apo E alleles, e2 (frequency, 10%), e3 (frequency, 75%), and e4 (frequency, 15%), that code different apo E isoforms. Apo E 3/3 is the most commonly found phenotype. Individuals with the apo E 2/2 phenotype are usually normolipidemic, but in combination with other factors (such as hyperinsulinemia, diabetes mellitus, thyroid dysfunction, or treatment with steroids), apo E 2/2 causes …
No takes yet. Share an insight, caveat, or question.
Schaefer et al. (2004) conducted an observational in Hyperlipidemia in patients with Apolipoprotein E 2/2 phenotype. Apolipoprotein A5 S19W mutation was evaluated. The Apolipoprotein A5 S19W mutation was investigated as a cofactor for hyperlipidemia in patients with the Apolipoprotein E 2/2 phenotype.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: