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Fernando Civeira1,2, César Martín3,4, Ana Cenarro1,5

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Autosomal dominant hypercholesterolemia can be caused by mutations in the APOE gene, specifically p.(Leu167del). Individuals with this mutation show a similar phenotype to familial hypercholesterolemia but respond better to lipid-lowering treatments.

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Area of Science:

  • Genetics
  • Cardiovascular Disease
  • Molecular Biology

Background:

  • Autosomal dominant hypercholesterolemia is a significant risk factor for cardiovascular disease.
  • Classic genetic causes include mutations in LDLR, APOB, and PCSK9 genes.
  • Emerging genetic loci are continuously being identified for hyperlipidemia.

Purpose of the Study:

  • To investigate the p.(Leu167del) mutation in the APOE gene as a potential cause of autosomal dominant hypercholesterolemia.
  • To compare the clinical phenotype and treatment response of individuals with APOE mutations to those with classic hypercholesterolemia genes.

Main Methods:

  • Family segregation studies to track inheritance patterns.
  • Lipoprotein analysis using ultracentrifugation and proteomics.
  • In vitro cell culture studies to assess VLDL-carrying p.(Leu167del) internalization.

Main Results:

  • Multiple studies confirm the role of the APOE p.(Leu167del) mutation in causing hypercholesterolemia.
  • The clinical presentation of APOE mutation carriers is indistinguishable from familial hypercholesterolemia patients with LDLR, APOB, or PCSK9 mutations.
  • APOE mutation carriers demonstrated an improved response to lipid-lowering therapies.

Conclusions:

  • The APOE gene is a strong candidate locus for familial hypercholesterolemia.
  • Genetic testing for familial hypercholesterolemia should include screening of the APOE gene.
  • The identification of APOE mutations may guide personalized lipid-lowering treatment strategies.