Related Experiment Video
Updated: Jun 22, 2026
07:57
Assessing Whole-Body Lipid-Handling Capacity in Mice
Published on: November 24, 2020
Inherited lipodystrophies and hypertriglyceridemia
1Division of Nutrition and Metabolic Diseases, Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA.
Current Opinion in Lipidology
|June 5, 2009
Summary
Inherited lipodystrophies cause adipose tissue loss and severe hypertriglyceridemia. Advances in understanding lipodystrophy genes offer new treatment strategies for these rare genetic disorders.
Area of Science:
- Genetics
- Metabolic Disorders
- Lipid Metabolism
Background:
- Inherited lipodystrophies are rare genetic disorders characterized by selective adipose tissue loss.
- Hypertriglyceridemia is a common feature, underscoring adipose tissue's role in lipid homeostasis.
- Recent molecular discoveries have advanced understanding of lipodystrophy pathophysiology.
Purpose of the Study:
- To review new insights into the pathophysiology of inherited lipodystrophies.
- To discuss current treatment strategies based on understanding lipodystrophy genes.
- To highlight the role of adipocytes in maintaining normolipidemia.
Main Methods:
- Review of genetic loci linked to lipodystrophy syndromes.
- Analysis of molecular mechanisms causing fat loss and dyslipidemia.
- Evaluation of therapeutic options including diet and leptin replacement.
Main Results:
- Eight genetic loci associated with lipodystrophy syndromes have been identified.
- Mutations affect adipocyte development, differentiation, and survival, leading to fat loss.
- Hypertriglyceridemia results from increased VLDL synthesis and/or reduced clearance; low-fat diets and leptin therapy show promise.
Conclusions:
- Inherited lipodystrophies are a significant cause of monogenic hypertriglyceridemia.
- Adipocyte function is crucial for maintaining normal lipid levels.
- Understanding gene function provides a basis for novel therapeutic approaches.
Related Concept Videos
01:24Overview 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...
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...
01:25Blood Studies for Cardiovascular System III: Serum Lipid Profile
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...
01:24Lipid Absorption
Dietary triglycerides from chyme in the duodenum are mixed with bile salts produced by the liver to emulsify fats. As a result, large droplets are broken down into smaller ones, increasing the surface area for enzymatic action. Once emulsified, pancreatic lipases hydrolyze the triglycerides into free fatty acids and monoglycerides.
These breakdown products bind with bile salts and lecithin to form micelles, which quickly pass between microvilli to come in close contact with the apical...
These breakdown products bind with bile salts and lecithin to form micelles, which quickly pass between microvilli to come in close contact with the apical...
01:29Cholesterol: Significance and Regulation
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...
01:20Lipid-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...
03:38Structure of Lipids
Lipids include a diverse group of compounds that are largely nonpolar in nature. This is because they are hydrocarbons that include mostly nonpolar carbon-carbon or carbon-hydrogen bonds. Non-polar molecules are hydrophobic (“water fearing”), or insoluble in water. Lipids perform many different functions in a cell. Cells store energy for long-term use in the form of fats. Lipids also provide insulation from the environment for plants and animals. For example, they help keep aquatic birds and...