Related Experiment Video
Updated: May 15, 2026
08:45
LDL Cholesterol Uptake Assay Using Live Cell Imaging Analysis with Cell Health Monitoring
Published on: November 17, 2018
Recent developments in the genetics of LDL deficiency
Amanda J Hooper1, John R Burnett
1Department of Core Clinical Pathology and Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital, Australia.
Current Opinion in Lipidology
|December 21, 2012
Summary
Genetic mutations in ANGPTL3 cause familial combined hypolipidemia, leading to significantly low levels of LDL cholesterol. This discovery highlights ANGPTL3 as a potential therapeutic target for managing lipid metabolism disorders.
Area of Science:
- Genetics
- Metabolic Disorders
- Lipid Metabolism
Background:
- Inherited disorders of lipoprotein metabolism can result in severe hypocholesterolemia.
- Low or absent low-density lipoprotein (LDL) levels are observed, influenced by specific genes and mutation severity.
Purpose of the Study:
- To review recent advancements in the genetic understanding of LDL deficiency.
- To explore the role of genetic factors in inherited hypocholesterolemia.
Main Methods:
- Review of recent genetic studies on lipoprotein metabolism.
- Analysis of genetic variants associated with hypocholesterolemia.
Main Results:
- Loss-of-function variants in the ANGPTL3 gene are identified as a cause of hypocholesterolemia.
- Heterozygous carriers exhibit reduced LDL-cholesterol and triglyceride levels.
- Homozygotes for ANGPTL3 loss-of-function variants present with familial combined hypolipidemia, characterized by markedly reduced LDL-cholesterol, triglyceride, and HDL-cholesterol concentrations.
Conclusions:
- Loss-of-function ANGPTL3 mutations reveal a novel regulatory mechanism for LDL metabolism in humans.
- ANGPTL3 emerges as a promising therapeutic target for conditions involving abnormal lipid metabolism.
Related Concept Videos
01:29Pharmacogenomics: 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...
02:41Lethal Alleles
Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
01:30Coronary 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...
01:26Atherosclerosis III: Management
Management of atherosclerosis involves an integrated strategy encompassing pharmacological treatment, surgical interventions, lifestyle changes, and nutrition therapy to address the multifactorial nature of the disease.Pharmacological TherapyA cornerstone of atherosclerosis management is the use of pharmacological agents. Statins, such as atorvastatin, are pivotal in inhibiting HMG-CoA reductase, an enzyme that catalyzes an initial step in cholesterol synthesis in the liver. This reduction in...
01:43Incomplete Dominance
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
01:28Human Genetics
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...