Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Type II Diabetes I: Introduction01:26

Type II Diabetes I: Introduction

Type 2 diabetes mellitus (T2DM) is a chronic metabolic disorder characterized by insulin resistance, in which target tissues such as the liver, muscle, and adipose tissue respond poorly to insulin. It is also associated with inadequate compensatory insulin secretion, where pancreatic β-cells fail to produce sufficient insulin. Together, these abnormalities lead to persistent hyperglycemia.EtiologyT2DM develops through a complex interaction of genetic predisposition and environmental or...
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
Lipid-Lowering Drugs: Statins and Miscellaneous Agents01:20

Lipid-Lowering Drugs: Statins and Miscellaneous Agents

Hyperlipidemia, a medical condition often referred to as high cholesterol, is characterized by abnormally elevated levels of lipids in the bloodstream. When present in excess, these lipids, specifically cholesterol and triglycerides, can lead to serious health complications, often involving cardiovascular diseases. Illnesses like atherosclerosis, heart attacks, and pancreatitis have all been linked to untreated hyperlipidemia. This means controlling and regulating cholesterol and triglyceride...
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
Overview of Lipid Metabolism01:24

Overview of Lipid Metabolism

Lipid metabolism is a crucial process in the human body that involves the synthesis and degradation of lipids. This process is essential for energy production, cell membrane formation, and hormone production, among other functions.
Lipolysis: The Breakdown of Lipids:
Lipolysis is the process of breaking down lipids, particularly triglycerides, into glycerol and fatty acids. This process typically occurs in the adipose tissue and is triggered by various hormones, including glucagon and...
Coronary Artery Disease I: Introduction01:30

Coronary Artery Disease I: Introduction

Coronary Artery Disease (CAD): An Overview with Scientific InsightsCoronary Artery Disease (CAD), often referred to as C-A-D, is a prevalent blood vessel disorder classified under the broader category of atherosclerosis. Atherosclerosis is a pathological process characterized by the hardening and narrowing of arteries due to the accumulation of atherosclerotic plaques. These plaques are composed of cholesterol, fatty substances, inflammatory cells, calcium, and fibrin, reducing blood flow to...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Moving Toward Universal Risk Stratification: Globally Standardized Lipoprotein(a) in Molar Units.

Journal of atherosclerosis and thrombosis·2026
Same author

BAP1 and USP1 cooperate to regulate FANCD2 stability and cell proliferation in mesothelioma cells.

Cell death & disease·2026
Same author

Declining Seroprevalence of Strongyloidiasis in Okinawa, Japan: A Cross-Sectional Study.

The American journal of tropical medicine and hygiene·2026
Same author

Species Distribution and Antifungal Susceptibility of Fungal Blood Isolates over a 16-Year Period at a University Hospital.

Medical mycology journal·2025
Same author

Knockdown of Telethonin Reduces Contractions and Provokes Aberrant Ca<sup>2+</sup>-waves in Human iPS Cell-induced Cardiomyocytes.

Juntendo medical journal·2025
Same author

Enhancement of ABCA1 and ABCG1 Expression and Cholesterol Efflux by a Metabolite of Tipelukast: A Potential Therapeutic Strategy for Atherosclerosis.

Journal of atherosclerosis and thrombosis·2025

Related Experiment Video

Updated: May 11, 2026

Assessing Whole-Body Lipid-Handling Capacity in Mice
07:57

Assessing Whole-Body Lipid-Handling Capacity in Mice

Published on: November 24, 2020

[Genetic predisposition to dyslipidemia].

Satoshi Hirayama1, Takashi Miida

  • 1Department of Clinical Laboratory Medicine, Juntendo University Graduate School of Medicine, Bunkyo-ku, Tokyo 113-8421, Japan. sthiraya@juntendo.ac.jp

Rinsho Byori. the Japanese Journal of Clinical Pathology
|May 16, 2013
PubMed
Summary

Genetic analysis has revealed links between gene abnormalities and dyslipidemia. Recent discoveries include PCSK9, NPC1L1, and ABCA1/G5/G8 genes, offering new therapeutic targets for lipid disorders.

Area of Science:

  • Genetics
  • Molecular Biology
  • Biochemistry

Background:

  • Lipid metabolism is crucial and influenced by various factors including apolipoproteins, receptors, enzymes, and transfer proteins.
  • Rapid advancements in molecular biology since the 1980s have enabled large-scale genetic studies.
  • These studies have identified significant associations between genetic abnormalities and dyslipidemic disorders.

Purpose of the Study:

  • To review major dyslipidemic disorders, their causal genes, pathosis, clinical features, diagnosis, and therapeutic strategies.
  • To highlight recent discoveries in cholesterol metabolism genes like PCSK9, NPC1L1, and ABCA1/ABCG5/G8.
  • To discuss the challenges and future directions in genetic analysis for heritable dyslipidemias.

Main Methods:

  • Review of existing literature on lipid metabolism and genetic dyslipidemias.

More Related Videos

LDL Cholesterol Uptake Assay Using Live Cell Imaging Analysis with Cell Health Monitoring
08:45

LDL Cholesterol Uptake Assay Using Live Cell Imaging Analysis with Cell Health Monitoring

Published on: November 17, 2018

Related Experiment Videos

Last Updated: May 11, 2026

Assessing Whole-Body Lipid-Handling Capacity in Mice
07:57

Assessing Whole-Body Lipid-Handling Capacity in Mice

Published on: November 24, 2020

LDL Cholesterol Uptake Assay Using Live Cell Imaging Analysis with Cell Health Monitoring
08:45

LDL Cholesterol Uptake Assay Using Live Cell Imaging Analysis with Cell Health Monitoring

Published on: November 17, 2018

  • Analysis of large-scale genetic investigation findings.
  • Identification and discussion of novel genes regulating cholesterol metabolism.

    • Main Results:

    • Established associations between genetic factors (apolipoproteins, receptors, enzymes, transfer proteins) and dyslipidemias.
    • Identification of PCSK9 and ARH as causal genes for familial hypercholesterolemia-like phenotypes.
    • Discovery of NPC1L1, ABCA1, and ABCG5/G8 as key cholesterol transporters, with NPC1L1 being a target for ezetimibe.

    Conclusions:

    • Despite progress, candidate genes for all dyslipidemias remain unidentified.
    • Development of simpler genetic analysis methods is needed for clinical application.
    • Future genetic insights may uncover new pathologies and drug targets for heritable dyslipidemias.