Related Experiment Video
Updated: Apr 17, 2026
10:56
A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
Published on: September 15, 2018
8.6K
Genetics of familial hypercholesterolemia
Ariel Brautbar1, Emili Leary, Kristen Rasmussen
1Division of Genetics, Cook Children's Medical Center, Fort Worth, TX, USA, ariel.brautbar@cookchildrens.org.
Current Atherosclerosis Reports
|February 26, 2015
Summary
Familial hypercholesterolemia (FH) is a genetic disorder causing high LDL cholesterol and early heart disease. Accurate diagnosis through genetic testing and phenotyping is crucial for effective management and counseling.
Area of Science:
- Genetics
- Cardiology
- Biochemistry
Background:
- Familial hypercholesterolemia (FH) is an inherited condition leading to high LDL cholesterol levels.
- It significantly increases the risk of premature cardiovascular disease.
- Prevalence is approximately 1 in 200-500 for heterozygotes in North America and Europe.
Purpose of the Study:
- To provide an overview of the genetic factors contributing to FH.
- To discuss the importance of differential diagnosis for FH.
- To outline genetic testing and counseling strategies for FH.
Main Methods:
- Review of genetic determinants of FH, focusing on LDLR, APOB, and PCSK9 genes.
- Emphasis on clinical and biochemical phenotyping for diagnosis.
- Discussion of genetic testing and counseling approaches.
Main Results:
- Monogenic FH is primarily caused by mutations in specific genes (LDLR, APOB, PCSK9).
- Accurate diagnosis relies on a combination of clinical presentation, biochemical data, and genetic validation.
- Limited success in identifying new genetic loci for extreme hypercholesterolemia.
Conclusions:
- Distinguishing FH from similar conditions is vital for appropriate treatment and genetic counseling.
- Comprehensive diagnostic strategies are essential for managing FH.
- Understanding the genetic basis of FH guides therapeutic and counseling interventions.
Related Concept Videos
01:29Pharmacogenomics: Identification of New Drug Targets
95
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...
95
01:29Cholesterol: Significance and Regulation
2.0K
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...
2.0K
01:27Principles of Pharmacogenetics: Types of Genetic Variants
119
The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
119
01:28Human Genetics
1.9K
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
The complex relationship between genetics and psychology is observable through common biological components such...
1.9K
01:11Genetic Lingo
118.9K
Overview
118.9K
01:29Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
132
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...
132