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Updated: Jul 2, 2025
10:56
A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
Published on: September 15, 2018
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Familial hypercholesterolemia with special focus on Japan
Junji Kobayashi1, Takuya Minamizuka2, Hayato Tada3
1Department of Endocrinology, Metabolism, Hematology and Geriatrics, Chiba University; Department of Clinical Laboratory Science, Graduate School of Medical Sciences, Kanazawa University.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|February 28, 2024
Summary
Familial hypercholesterolemia (FH) is an inherited condition causing high LDL cholesterol. Research now shows PCSK9 gain-of-function mutations are a key cause, impacting LDL receptor degradation and leading to cardiovascular disease.
Area of Science:
- Genetics
- Cardiology
- Biochemistry
Background:
- Familial hypercholesterolemia (FH) is an inherited disorder.
- It leads to elevated low-density lipoprotein (LDL) cholesterol levels.
- FH significantly increases the risk of atherosclerotic cardiovascular disease.
Purpose of the Study:
- To review the history of Familial hypercholesterolemia (FH) research.
- To discuss clinical phenotyping and genotyping advancements.
- To highlight treatment progress, particularly in Japan.
Main Methods:
- Literature review of FH research.
- Analysis of genetic studies linking mutations to FH.
- Examination of clinical and treatment data.
Main Results:
- Initial FH research focused on LDL receptor mutations.
- Subsequent studies identified gain-of-function PCSK9 mutations as a cause of FH.
- PCSK9 mutations lead to increased LDL receptor degradation.
Conclusions:
- Understanding FH genetics has evolved from LDL receptor to PCSK9.
- Accurate phenotyping and genotyping are crucial for FH diagnosis.
- Advances in treatment offer improved management for FH patients, with a focus on Japanese populations.
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