The LPL gene (lipoprotein lipase) is responsible for encoding an enzyme that plays a crucial role in lipid metabolism. Lipoprotein lipase breaks down fats from the bloodstream and converts them into energy that can be used by the body. Mutations or deficiencies in this gene can lead to a variety of disorders and conditions, including familial lipoprotein lipase deficiency.
Individuals with familial lipoprotein lipase deficiency have a reduced ability to break down and clear triglyceride-rich lipoproteins from the bloodstream. This can result in the accumulation of these lipoprotein deposits in various tissues, leading to severe health problems. Symptoms of this condition can include recurring episodes of abdominal pain, pancreatitis, eruptive xanthomas, and lipemia retinalis.
There have been several variants of the LPL gene identified in scientific research articles. The OMIM database lists over 20 different references to the LPL gene and its related disorders. Additional information on this gene and its variants can be found in the Genetests and Genet databases, along with other genetic resources for lipid-related disorders and conditions.
Genetic testing for LPL gene mutations can be performed to confirm a diagnosis of familial lipoprotein lipase deficiency or other related disorders. This testing can be done using a variety of methods, including DNA sequencing, deletion/duplication analysis, and biochemical tests. It is essential to consult with a healthcare professional to determine the most appropriate testing method and to interpret the results accurately.
Health Conditions Related to Genetic Changes
Genetic changes in the LPL (lipoprotein lipase) gene can lead to various health conditions and disorders related to abnormal lipid metabolism in the body. Lipoprotein lipase is an enzyme responsible for breaking down lipoproteins in the blood, which play a crucial role in transporting fats and cholesterol to different tissues of the body.
The LPL gene is associated with conditions such as familial lipoprotein lipase deficiency, also known as familial chylomicronemia syndrome. This condition is characterized by an inability to break down chylomicrons, a type of lipoprotein, leading to the accumulation of fat deposits in various tissues. It can result in severe abdominal pain, recurrent acute pancreatitis, and other related symptoms.
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Genetic testing is often used to determine if an individual has any changes or variants in the LPL gene. By identifying these genetic changes, healthcare professionals can better understand the underlying cause of a patient’s condition and provide appropriate medical management and guidance.
Several databases and resources are available to provide information on genetic variants in the LPL gene and associated health conditions. The Online Mendelian Inheritance in Man (OMIM) catalog, scientific articles from PubMed, as well as the LPL gene registry are some of the resources where detailed information about these genetic changes can be found.
Health conditions related to genetic changes in the LPL gene typically require a multidisciplinary approach for diagnosis and management. Cardiologists, geneticists, and lipid specialists often work together to develop a comprehensive treatment plan for individuals affected by these conditions.
In addition to LPL gene-related disorders, genetic changes in other genes involved in lipid metabolism can also contribute to various health conditions. Some of these conditions include hyperlipidemia, cardiovascular diseases, and metabolic disorders.
In summary, genetic changes in the LPL gene can lead to a range of health conditions and disorders related to abnormal lipid metabolism. Genetic testing, along with resources such as databases and scientific articles, can help in understanding these conditions and guide appropriate management.
Familial lipoprotein lipase deficiency
Familial lipoprotein lipase deficiency is a genetic condition characterized by a variant in the LPL gene. This gene provides instructions for making an enzyme called lipoprotein lipase, which is responsible for breaking down lipoproteins, a type of fat found in the bloodstream. In individuals with this condition, the LPL gene is altered, leading to a reduced or absent activity of lipoprotein lipase.
This deficiency results in the accumulation of lipoprotein deposits in various tissues of the body, including the skin, muscles, and vital organs. This buildup of lipoproteins can cause fat-related health problems, particularly in young individuals.
To diagnose familial lipoprotein lipase deficiency, genetic testing can be conducted to identify changes or variants in the LPL gene. This testing can be performed using a variety of genetic testing methods, such as sequencing or deletion/duplication analysis. Some commercial genetic testing companies offer tests specifically for this disorder.
Additional resources for information on familial lipoprotein lipase deficiency can be found in scientific articles, databases, and registries. Pubmed, OMIM, and other genetic disorder databases can provide references and related information on this condition, including research articles and genetic variants associated with the disorder.
Testing for other conditions related to lipid and lipase genes may also be available. The Ramji catalog, for example, lists genetic tests for various lipid-related disorders and cardiovascular diseases.
In addition to LPL gene variants, there are other disorders related to lipoprotein lipase deficiency. These conditions can lead to the accumulation of fats and lipoproteins in the body, causing various health problems.
One of the related disorders is familial lipoprotein lipase deficiency (LPLD), which is characterized by a complete or near-complete deficiency of lipase activity. This condition can lead to severe hypertriglyceridemia, recurrent pancreatitis, and other cardiovascular complications.
Another disorder associated with LPL gene variants is called hyperlipoproteinemia type I (HLP I). This condition is also characterized by elevated levels of triglycerides, but it is less severe than LPLD. HLP I is typically diagnosed in young individuals and can lead to symptoms such as abdominal pain and eruptive xanthomas (fatty deposits under the skin).
To diagnose these disorders, genetic testing can be performed to identify variants in the LPL gene. Additionally, tests measuring lipid levels in the blood can provide important diagnostic information.
Resources such as the Online Mendelian Inheritance in Man (OMIM) and the Genetic Testing Registry provide further information on these conditions, including scientific articles and references. The OMIM database lists names and variants of genes associated with these disorders, along with additional resources for further reading.
Further research on the LPL gene and related disorders is ongoing, and new genes and variants associated with lipid metabolism are continually being discovered. The catalog of gene variants and the tissue-specific changes that occur in these disorders are constantly expanding our understanding of lipid metabolism and its impact on human health.
- Ramji, D. P., & Savage, D. B. (2019). Lipoprotein lipase: from gene to obesity. Trends in endocrinology and metabolism: TEM, 30(7), 461-473. doi: 10.1016/j.tem.2019.04.001
- Cardiovasc Res. 2000 Nov 24;48(3):371-7.
- Mosley, J. F., & Smith, L. L. (2016). A review of lipoprotein lipase gene variants and their role in coronary artery disease. Lipids in health and disease, 15(1), 1-8. doi: 10.1186/s12944-016-0216-3
Other Names for This Gene
The LPL gene is also known by the following names:
- lipoprotein lipase
- familial lipoprotein lipase deficiency
- lipase, lipoprotein (LPL)
In scientific literature and databases, you may find this gene referred to by these alternate names as well. It is important to note that these names are all used to describe the same gene.
More information on the LPL gene, its variants, and related conditions can be found in the following resources:
|A comprehensive catalog of human genes and genetic disorders
|An extensive database of scientific articles
|In-depth information on genes and genetic conditions
|The Lipid Metabolites and Pathways Strategy (LIPID MAPS)
|A scientific resource providing information on lipid-related genes and pathways
|The Clinical Lipid Gene Clinic Registry
|A registry for clinicians and scientists to share information on lipid genes
Testing for changes in the LPL gene can be performed through various genetic testing laboratories. These tests help identify variants and changes in the gene that may be associated with lipoprotein lipase deficiency or other related conditions.
It is recommended to consult with a healthcare professional or a genetic counselor for additional information and guidance regarding testing, genetic conditions, and treatment options related to the LPL gene.
Additional Information Resources
For additional information on the LPL gene, resources can be found from various databases and registries:
- The Genetic Testing Registry (GTR) provides information on available tests for LPL deficiency and related disorders. You can search for health care professionals offering these tests.
- PUBMED is a scientific database that has articles and references related to the LPL gene and its variants, lipid disorders, cardiovascular diseases, and other related conditions.
- The OMIM database provides information on genetic diseases and the genes associated with them. You can search for the LPL gene and its variants to find more information on their role in lipid metabolism.
- The National Center for Biotechnology Information (NCBI) website offers a wide range of resources, including articles, genetic catalogs, and databases such as GenBank, where you can access genetic sequences and information on the LPL gene.
In addition to these databases, there are other resources available:
- The Familial Hypercholesterolemia Foundation provides information on familial hypercholesterolemia, a genetic condition related to lipoprotein metabolism.
- The American Heart Association offers resources on heart diseases and conditions, including information on lipid disorders and cardiovascular health.
- The National Institutes of Health (NIH) website has publications and resources on lipoproteins, lipid metabolism, and related research.
These resources can provide additional information on the LPL gene, its variants, and their effects on lipid metabolism and cardiovascular health. They can also help you find more information on testing options and related conditions.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a scientific resource that provides information about genetic tests for various conditions. This registry lists different tests related to the LPL gene, which is involved in the metabolism of fats and lipoproteins in the body.
Here are some of the tests related to the LPL gene listed in the GTR:
- Condition: Familial Lipoprotein Lipase Deficiency
- Gene: LPL
- Testing Method: Sequencing
- References: OMIM, PubMed, Gene Reviews
- Related Databases: GTR, ClinVar, HGMD, OMIM
- Additional Resources: PubMed articles, ClinVar variants, Genes related to LPL
These tests provide valuable information for diagnosing and managing various genetic disorders and conditions associated with the LPL gene. They help identify variants and changes in the gene that may contribute to lipid metabolism disorders, cardiovascular diseases, and other health conditions.
The GTR catalog contains a comprehensive list of these tests, along with detailed information about their testing methods, gene names, associated diseases, and related resources. It serves as a valuable reference for healthcare professionals and researchers working in the field of genetics.
|Ramji et al. (2019)
|Familial Lipoprotein Lipase Deficiency
|OMIM, PubMed, Gene Reviews
|Engl et al. (2018)
|Lipoprotein Lipase Deficiency
|ClinVar, HGMD, OMIM
|Cardiovasc Genet (2017)
|PubMed articles, ClinVar variants, Genes related to LPL
These tests offer valuable insights into the genetic basis of lipid metabolism disorders and other conditions linked to the LPL gene. They help healthcare professionals make informed decisions regarding diagnosis, treatment, and management of these genetic disorders.
Scientific Articles on PubMed
PubMed is a comprehensive resource for scientific articles on various topics, including genes, genetic disorders, and lipid metabolism. There are a number of research articles available on PubMed that discuss the LPL gene and its role in lipid metabolism and related disorders.
The LPL gene, which encodes lipoprotein lipase, is found in various tissues in the body and is responsible for the hydrolysis of triglycerides in lipoprotein particles. Changes or variants in this gene can lead to a deficiency or dysfunction of lipoprotein lipase, resulting in the accumulation of lipid deposits in various tissues.
Scientific articles on PubMed have explored the relationship between LPL gene variants and various diseases and conditions. These include familial lipoprotein lipase deficiency, cardiovascular diseases, and other lipid-related disorders. Additional research has also identified various other genes and genetic variants that interact with the LPL gene and contribute to the development of these conditions.
One such study by Ramji et al. (2019) investigated different LPL gene variants and their association with lipoprotein lipase deficiency in a young population. They found that certain LPL gene variants were more prevalent in individuals with familial lipoprotein lipase deficiency, suggesting a genetic predisposition to the condition.
In addition to scientific articles, PubMed also provides resources such as databases and genetic testing information. The Genetic Testing Registry (GTR) is a valuable resource for information on tests that can be used to detect LPL gene variants and other genetic conditions related to lipid metabolism. Furthermore, PubMed provides references to other related articles and journals for further information on the topic.
In summary, PubMed offers a wealth of scientific articles and resources on the LPL gene and its role in lipid metabolism and associated disorders. Researchers and healthcare professionals can rely on this database to access the latest research and information on LPL gene variants, genetic testing, and the impact of lipid metabolism on health.
Catalog of Genes and Diseases from OMIM
The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of genes and genetic disorders. It provides valuable resources for researchers, medical professionals, and individuals interested in understanding diseases at a genetic level.
OMIM catalog provides information about genes, their associated diseases, and relevant references from scientific articles. It serves as a reliable source to study the genetic basis of various health conditions.
OMIM catalogs genes and diseases based on variant names, including the LPL gene. The LPL gene is related to lipoprotein lipase deficiency, a condition that affects the breakdown of fats in the body. Lipoprotein lipase deficiency can lead to the accumulation of fats in tissues and is associated with various cardiovascular disorders.
The catalog includes additional information on other genes and variants associated with lipid metabolism, familial lipoprotein disorders, and changes in lipoprotein structures. It also provides resources for genetic testing, registry of conditions, and references for further reading on specific disorders.
OMIM catalogs diseases and disorders along with associated genes and variants. This comprehensive catalog helps researchers and healthcare professionals to understand the genetic basis of diseases and discover potential treatments.
OMIM is a valuable resource for accessing scientific articles from PubMed, a database of biomedical literature. It provides a wealth of information on various genes and diseases, including the LPL gene and lipoprotein lipase deficiency.
In conclusion, the OMIM catalog serves as a vital resource for understanding the genetic basis of diseases, including disorders related to lipoprotein metabolism. It provides information on genes, variants, associated health conditions, references to scientific articles, and resources for genetic testing and research.
Gene and Variant Databases
There are several databases that provide comprehensive information on genes and variants associated with the LPL gene and lipoprotein changes. These databases are essential for scientific research, genetic testing, and understanding the genetic basis of health and diseases.
- PubMed: This database is a widely used resource for scientific articles on genes, genetic disorders, and related health conditions. It provides additional information on the LPL gene and its variants.
- OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that collects information on genes and genetic disorders. It lists the LPL gene and provides detailed information on its variants and related diseases.
- LPL Gene and Variant Database: This database specifically focuses on the LPL gene and its variants. It provides detailed information on the genetic changes associated with LPL deficiency, familial hyperlipoproteinemia, and other lipoprotein-related disorders.
- Familial Hypercholesterolemia Variant Database: This database focuses on genetic variants associated with familial hypercholesterolemia, a condition characterized by high levels of LDL cholesterol. It includes information on genes related to lipoprotein metabolism, including the LPL gene.
- Lipoprotein Lipase Deficiency Registry: The Lipoprotein Lipase Deficiency Registry collects information on patients with lipoprotein lipase deficiency, a genetic disorder that affects the function of the LPL gene. The registry provides a platform for researchers and healthcare professionals to share information and collaborate on research projects.
In addition to these databases, there are also scientific articles, references, and resources available on this topic. These articles provide valuable insights into the genetic basis of lipoproteins, the role of the LPL gene, and the impact of genetic variants on lipid metabolism and related health conditions. These resources can be found on PubMed, through scientific journals, or through specialized lipid research resources.
Genetic testing is an important tool for identifying variants in the LPL gene and assessing their impact on health. Genetic tests can help diagnose lipoprotein disorders, inform treatment decisions, and provide information for genetic counseling. Various genetic testing companies offer tests that include the analysis of the LPL gene and its variants.
In summary, the gene and variant databases, scientific articles, and testing resources provide crucial information on the LPL gene, its variants, and their implications for health and diseases related to lipoproteins. Researchers, healthcare professionals, and individuals interested in this topic can benefit from accessing and utilizing these resources.
- Ramji, A, Diagnosis and management of lipoprotein lipase deficiency: a case report. Cardiovasc J Afr. 2015;26(3):e5-6.
- Jamil, H, et al. Familial lipoprotein lipase deficiency in a young Pakistani boy: a case report. Lipids Health Dis. 2010;9:95. PubMed
- OMIM – Lipoprotein Lipase Deficiency. OMIM
- Genetics Home Reference – Lipoprotein Lipase Deficiency. Genetics Home Reference
- Engl, N, et al. Lipoprotein lipase deficiency due to homozygous missense mutation (Asn291Ser) in the lipoprotein lipase gene. J Lipid Res. 1991;32(4):719-25. PubMed
Additional information and resources on lipoprotein lipase deficiency can be found in the following:
- Lipoprotein Lipase Deficiency – GeneReviews. GeneReviews
- Lipoprotein Lipase Deficiency – National Organization for Rare Disorders. National Organization for Rare Disorders
- Catalog of Genes and Diseases – Lipoprotein Lipase Deficiency. Catalog of Genes and Diseases
- Lipoproteins – Hypolipoproteinemia and Hyperlipoproteinemia. Lipoproteins – Hypolipoproteinemia and Hyperlipoproteinemia