Related Experiment Video
Updated: May 20, 2025
07:29
Cell-free Biochemical Fluorometric Enzymatic Assay for High-throughput Measurement of Lipid Peroxidation in High Density Lipoprotein
Published on: October 12, 2017
9.2K
Large-Scale Functional Characterization of Low-Density Lipoprotein Receptor Gene Variants Improves Risk Assessment in
Mohammad Majharul Islam1, Max Tamlander2, Iryna Hlushchenko1
1Department of Anatomy, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
JACC. Basic to Translational Science
|March 25, 2025
Summary
Functional data for LDLR gene variants improves cardiovascular disease risk assessment. This aids in diagnosing and treating familial hypercholesterolemia with precision medicine approaches.
Area of Science:
- Genetics
- Cardiovascular Disease
- Biochemistry
Background:
- Limited functional data for genetic variants hinders precision medicine in cardiovascular disease.
- Genetic tools require in-depth variant information for effective application.
Purpose of the Study:
- To establish an automated platform for deriving functional data of LDLR gene variants.
- To assess the impact of LDLR variant activity on cardiovascular disease risk and lipid levels.
Main Methods:
- Developed an automated analysis platform utilizing multiplexed high-content imaging.
- Generated functional data for hundreds of LDLR gene variants.
- Correlated residual receptor activity with clinical outcomes.
Main Results:
- Residual low-density lipoprotein receptor activity significantly impacts cardiovascular disease risk.
- LDLR variant activity is linked to elevated low-density lipoprotein cholesterol levels.
- Functional data influences the utilization of lipid-lowering therapies.
Conclusions:
- The platform enables enhanced risk stratification for individuals with LDLR gene variants.
- Improved diagnosis and risk assessment for familial hypercholesterolemia are now possible.
- New opportunities for personalized treatment selection in cardiovascular disease are opened.
Related Concept Videos
01:25Blood Studies for Cardiovascular System III: Serum Lipid Profile
111
Understanding serum lipids is crucial for maintaining cardiovascular health and preventing heart disease and stroke.
Serum lipids are fats and fatty substances in the blood and are crucial for various bodily functions, including energy storage, cellular structure, and hormone production. Serum lipids consist of cholesterol, triglycerides, and phospholipids.
Cholesterol is a soft, fat-like substance found in all body cells. It is crucial for producing hormones, vitamin D, and substances that aid...
Serum lipids are fats and fatty substances in the blood and are crucial for various bodily functions, including energy storage, cellular structure, and hormone production. Serum lipids consist of cholesterol, triglycerides, and phospholipids.
Cholesterol is a soft, fat-like substance found in all body cells. It is crucial for producing hormones, vitamin D, and substances that aid...
111
01:31Lipid-derived Compounds in the Human Body
4.3K
Fats and lipids are crucial components in the human body. Some lipid-derived compounds, such as fat-soluble vitamins, eicosanoids, lipoproteins, and glycolipids, also play unique roles to support various biological processes .
Fat-soluble Vitamins
Fat-soluble vitamins, including vitamins A, D, E, and K, are required in minimal quantities, but their deficiencies can lead to severely abnormal physiological conditions. For example, vitamin A deficiency can cause night blindness, dry skin,...
Fat-soluble Vitamins
Fat-soluble vitamins, including vitamins A, D, E, and K, are required in minimal quantities, but their deficiencies can lead to severely abnormal physiological conditions. For example, vitamin A deficiency can cause night blindness, dry skin,...
4.3K
01:29Cholesterol: Significance and Regulation
475
Although not a source of energy, cholesterol plays a significant role as a foundational structure for bile salts, steroid hormones, and vitamin D, as well as being a crucial component of plasma membranes. Approximately 15% of blood cholesterol is derived from our diet, with the remainder synthesized from acetyl CoA by the liver and intestines. Cholesterol is eliminated from the body through its conversion into bile salts, which are eventually discarded in the feces.
Considering cholesterol and...
Considering cholesterol and...
475
01:19Blood Studies for Cardiovascular System II: CRP, Hcy, and Cardiac Natriuretic Peptide Markers
39
Cardiac biomarkers are critical in diagnosing, prognosing, and managing cardiovascular diseases. Routine measurement of specific biomarkers such as B-type natriuretic peptide (BNP), C-reactive protein (CRP), and homocysteine (Hcy) is common practice in clinical settings to evaluate heart function and predict cardiovascular events.
These markers indicate stress or strain on the heart muscle:
Natriuretic Peptides (BNP)
Cardiac myocytes produce these hormones in response to ventricular stretching...
These markers indicate stress or strain on the heart muscle:
Natriuretic Peptides (BNP)
Cardiac myocytes produce these hormones in response to ventricular stretching...
39
01:11Genome-wide Association Studies-GWAS
12.2K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
12.2K
01:33Pleiotropy
38.8K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
38.8K