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Updated: Mar 7, 2026

A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
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A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes

Published on: September 15, 2018

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Molecular basis of familial hypercholesterolemia

Caroline S Bruikman1, Gerard K Hovingh, John J P Kastelein

  • 1Department of Vascular Medicine, Academic Medical Center, Amsterdam, The Netherlands.

Current Opinion in Cardiology
|February 8, 2017
PubMed

Insights

Familial hypercholesterolemia (FH) is a genetic disorder causing early heart disease. Understanding its molecular basis, involving over 1700 mutations in key genes, is vital for diagnosis and treatment.

Area of Science:

  • Genetics
  • Cardiology
  • Molecular Biology

Background:

  • Familial hypercholesterolemia (FH) is a prevalent genetic condition.
  • It is a significant cause of premature coronary heart disease.
  • Less than 1% of FH patients are identified globally, despite 1 in 250 individuals having heterozygous FH.

Purpose of the Study:

  • To present an overview of the molecular underpinnings of familial hypercholesterolemia.
  • To highlight the importance of understanding FH genetics for accurate diagnosis.

Main Methods:

  • Review of existing literature on familial hypercholesterolemia genetics.
  • Analysis of mutation data from key genes associated with FH.
  • Discussion of next-generation sequencing applications in FH research.

Main Results:

  • Over 1700 mutations in LDLR, apoB, and PCSK9 genes account for approximately 85% of FH cases.
  • Untreated heterozygous FH leads to early coronary heart disease, with high mortality rates from myocardial infarction before age 55.
  • Next-generation sequencing is identifying an increasing number of mutations in both known and novel genes linked to the FH phenotype.

Conclusions:

  • The genetic basis of familial hypercholesterolemia is complex, involving numerous mutations in specific genes.
  • Early identification and understanding of FH molecular basis are critical for preventing premature cardiovascular events.
  • Advancements in genetic sequencing technologies are expanding our knowledge of FH-associated genes.
Abstract

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