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[Genetic disorders causing abnormal LDL-cholesterol levels]
1Department of Geriatric Medicine, Graduate School of Medicine, Kyoto University.
Insights
Inherited disorders affecting LDL-cholesterol levels, such as familial hypercholesterolemia, increase heart disease risk. Understanding these genetic conditions and their animal models is key to developing new therapies like gene therapy.
Area of Science:
- Genetics
- Cardiovascular Medicine
- Metabolic Disorders
Context:
- Epidemiological studies link serum LDL-cholesterol to ischemic heart disease incidence.
- Lipid intervention trials demonstrate that lowering LDL-cholesterol prevents cardiac events.
- Genetic factors significantly influence serum lipid profiles and cardiovascular health.
Purpose:
- To review inherited disorders causing abnormal serum LDL-cholesterol levels.
- To discuss the mechanisms and animal models of these genetic lipid disorders.
- To highlight the need for advanced therapeutic strategies, including gene therapy.
Summary:
- Familial hypercholesterolemia, familial ligand-defective apolipoprotein B100, familial combined hyperlipidemia, and cholesterol ester storage disease elevate serum LDL-cholesterol.
- Abetalipoproteinemia and familial hypobetalipoproteinemia decrease serum LDL-cholesterol.
- Genetic engineering has advanced the understanding and modeling of these inherited conditions.
Impact:
- These genetic disorders can lead to atherosclerosis and psychoneurological diseases.
- Current fundamental therapies are insufficient, underscoring the need for novel treatments.
- Gene therapy presents a potential future therapeutic avenue for managing these inherited lipid disorders.
Abstract:
Various epidemiological studies and lipid intervention trials have revealed that serum LDL-cholesterol level correlates to the incidence in ischemic heart disease, and decreasing the level can prevent cardiac events. Inherited diseases causing abnormal LDL-cholesterol levels are discussed in this article, including their animal models. Familial hypercholesterolemia, familial ligand-defective apolipoprotein B100, familial combined hyperlipidemia and cholesterol ester storage disease result in elevation of serum LDL-cholesterol. On the other hand, serum LDL-cholesterol is decreased in abetalipoproteinemia and familial hypobetalipoproteinemia. The development of genetic engineering technology has elucidated the mechanism of these genetic disorders and elaborated their animal models. Although most of them cause atherosclerotic or psychoneurological diseases, fundamental therapy remains to be established, such as gene therapy.