Related Experiment Video
Updated: Sep 16, 2025
09:37
A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging
Published on: July 14, 2016
8.4K
Heterozygous pathogenic PPARG variants in patients with severe hypertriglyceridemia
Shyann Hang1, Jian Wang2, Zahra Taboun3
1Department of Medicine, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada (Drs Hang and Hegele).
Journal of Clinical Lipidology
|July 4, 2025
Summary
A small percentage of patients with multifactorial chylomicronemia syndrome (MCS) have familial partial lipodystrophy type 3 (FPLD3), caused by PPARG gene variants. Early genetic screening for FPLD3 is crucial for distinct patient management.
Area of Science:
- Genetics
- Metabolic Disorders
- Endocrinology
Background:
- Familial partial lipodystrophy type 3 (FPLD3) is caused by heterozygous pathogenic variants in the PPARG gene.
- FPLD3 is characterized by insulin resistance and hypertriglyceridemia.
- Multifactorial chylomicronemia syndrome (MCS) involves severe hypertriglyceridemia from multiple genetic and environmental factors.
Purpose of the Study:
- To determine the prevalence of FPLD3 in patients diagnosed with MCS.
- To assess the clinical and biochemical characteristics of MCS patients with FPLD3.
Main Methods:
- Targeted DNA sequencing of the PPARG gene was performed.
- 182 clinically diagnosed MCS patients were screened.
- Genetic variants were identified and analyzed.
Main Results:
- Heterozygous pathogenic PPARG variants, indicative of FPLD3, were found in 3.3% (6/182) of MCS patients.
- Identified variants included PPARG p.Lys186fs, p.Glu217Lys, p.Pro454fs, p.Met284Ile, p.Ser383Arg, and p.Arg181Trp.
- Patients with FPLD3 were not previously diagnosed and showed comparable features to the general MCS cohort.
Conclusions:
- A clinically significant subgroup of MCS patients presents with FPLD3.
- FPLD3 may have subtle clinical signs but severe metabolic consequences.
- Genetic screening for lipodystrophy genes is recommended for patients with severe hypertriglyceridemia due to distinct management needs.
Related Concept Videos
01:25Blood Studies for Cardiovascular System III: Serum Lipid Profile
298
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...
298
01:26Atherosclerosis III: Management
41
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...
41
01:30Peripheral Artery Disease I: Introduction
35
Peripheral artery disease (PAD) predominantly results from atherosclerosis, which involves the accumulation of fatty deposits, or plaques, within the walls of arteries. This causes them to narrow and harden, significantly reducing blood flow. PAD predominantly affects the legs, particularly the arteries supplying the thighs and calves. In rare cases, it may involve other arteries, including those in the arms.Etiology of PAD:The principal cause of PAD is atherosclerosis, which results from fatty...
35
01:29Cholesterol: Significance and Regulation
697
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...
697
01:17Gastritis-II: Pathophysiology
579
Gastritis is marked by disruption of the mucosal barrier that usually protects the stomach tissue from digestive juices and manifests in acute and chronic forms.
In acute gastritis, the gastric mucosa becomes swollen and red and undergoes superficial erosion. Superficial ulceration may lead to bleeding.
In chronic gastritis, persistent or repeated insults lead to chronic inflammatory changes and, eventually, thinning or atrophy of the gastric tissue.
Gastritis can stem from various causes, each...
In acute gastritis, the gastric mucosa becomes swollen and red and undergoes superficial erosion. Superficial ulceration may lead to bleeding.
In chronic gastritis, persistent or repeated insults lead to chronic inflammatory changes and, eventually, thinning or atrophy of the gastric tissue.
Gastritis can stem from various causes, each...
579
02:41Lethal Alleles
15.7K
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...
15.7K