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PNPLA2 gene

The PNPLA2 gene is a scientific term used to describe the Patatin-like phospholipase domain-containing protein 2 gene. This gene is responsible for encoding an enzyme called adipose triglyceride lipase (ATGL) which plays a crucial role in lipid metabolism. ATGL is involved in the breakdown of triglycerides stored in our body’s fat cells into fatty acids, allowing them to be used as a source of energy.

Various genetic mutations in the PNPLA2 gene have been identified, leading to different variants of the gene. These variants can impact the function of ATGL and contribute to the development of certain lipid-related diseases. Some of these diseases include neutral lipid storage disease with myopathy (NLSD-M) and other related conditions.

Scientific research on the PNPLA2 gene and its variants has led to the publication of numerous articles and references, with resources and information available through databases such as OMIM (Online Mendelian Inheritance in Man), PubMed, and other online genetic registries. These databases provide comprehensive information on the gene, its role in disease, and the associated genetic mutations.

Genetic testing for mutations in the PNPLA2 gene is available, allowing individuals to determine their risk for developing lipid-related disorders. Additional articles and studies related to this gene can provide valuable insights into the role of PNPLA2 in various health conditions and the potential for targeted therapies.

Genetic changes in the PNPLA2 gene have been found to play a role in various health conditions. The PNPLA2 gene codes for the enzyme adipose triglyceride lipase (ATGL), which is involved in the breakdown of triglycerides, a type of lipid or fat, stored in the body.

  • Neutral Lipid Storage Disease with Myopathy (NLSDM) – This genetic condition is caused by mutations in the PNPLA2 gene. It is characterized by the abnormal accumulation of triglycerides in various tissues, leading to muscle weakness, liver problems, and other symptoms.
  • Other Lipid Storage Diseases – Changes in the PNPLA2 gene have also been associated with other lipid storage diseases, including neutral lipid storage disease without myopathy (NLSDNM), idiopathic triglyceride deposit disease (ITDD), and nonalcoholic fatty liver disease (NAFLD).

Genetic testing for mutations in the PNPLA2 gene can help diagnose these conditions and provide additional information for management and treatment. The following resources can be used to find more articles and information on genetic changes in the PNPLA2 gene:

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  • OMIM (Online Mendelian Inheritance in Man) – A catalog of human genes and genetic disorders. OMIM provides detailed information, including genetic changes, associated diseases, and references to scientific articles.
  • PubMed – A database of scientific articles from various scientific journals. Searching for “PNPLA2 gene” or specific condition names can provide access to relevant research articles.
  • Gene and Variant Databases – Various genetic databases maintain information on genes, variants, and associated diseases. These databases can be helpful in understanding the genetic changes and their impact on health conditions.
  • Genetic Testing – Consultation with a genetic counselor or healthcare provider can help determine the appropriate genetic tests for diagnosing and managing health conditions related to PNPLA2 gene changes.

It is important to note that this information is for reference purposes only. It is always recommended to consult with healthcare professionals and refer to reputable sources for accurate and up-to-date information on specific health conditions.

Neutral lipid storage disease with myopathy

Neutral lipid storage disease with myopathy (NLSDM) is a rare genetic condition characterized by the accumulation of neutral lipids in various tissues of the body. This disease is caused by mutations in the PNPLA2 gene, also known as adipose triglyceride lipase (ATGL) gene.

The PNPLA2 gene is listed in various genetic databases, such as OMIM and HGNC, and is associated with other lipid storage disorders. The gene provides instructions for the production of the ATGL enzyme, which plays a crucial role in the breakdown of triglycerides, a type of lipid molecule found in fat tissue.

See also  AMN gene

Mutations in the PNPLA2 gene can lead to a deficiency of the ATGL enzyme, resulting in the abnormal accumulation of triglycerides in different tissues, including skeletal muscle cells. This accumulation of lipids impairs the normal function of the affected cells and leads to the development of myopathy, a muscular disorder characterized by weakness, muscle pain, and fatigue.

The diagnosis of NLSDM can be confirmed through genetic testing, which involves the analysis of the PNPLA2 gene for mutations. Additional tests, such as muscle biopsy and biochemical analysis, can also be conducted to assess the lipid storage and the extent of muscle damage.

Scientific articles and other publications related to NLSDM can be found in various resources, including PubMed and OMIM. These databases provide comprehensive information on the genetic changes, clinical manifestations, and management approaches for this disease.

Patient registries and health organizations also play a crucial role in supporting individuals with NLSDM and their families. These resources provide access to information on disease management, available treatments, and ongoing clinical trials.

In summary, NLSDM is a rare genetic disease characterized by the abnormal storage of neutral lipids and the development of myopathy. The PNPLA2 gene, which encodes the ATGL enzyme, plays a central role in the regulation of lipid metabolism. Genetic testing and additional diagnostic procedures can aid in the identification and management of this condition. Resources such as PubMed, OMIM, and patient registries provide valuable information for healthcare professionals and individuals affected by NLSDM.

Other Names for This Gene

The PNPLA2 gene is also known by several other names:

  • Adipose triglyceride lipase
  • ATGL
  • Desnutrin
  • Neutral lipid storage disease with myopathy

These names reflect the different aspects of the gene’s role in lipid metabolism and its association with certain conditions and diseases.

Additional information about the PNPLA2 gene can be found in the following resources:

  • The Genetic Testing Registry (GTR)
  • The OMIM database
  • Other genetic databases
  • Scientific articles and references listed in PubMed

These resources provide comprehensive information about the gene, its mutations, and their effects on health and disease. They also offer information on related conditions and diseases, lipid storage, and testing methods.

Additional Information Resources

The PNPLA2 gene is known to be involved in lipid metabolism, and testing for genetic changes in this gene can provide scientific insights into lipid disorders and related diseases.

For further information about lipid testing and its role in disease diagnosis, the following resources may be helpful:

  • ATGL Gene and Protein Information: This resource provides detailed information about the PNPLA2 gene, its genetic variants, and the role of the ATGL protein in lipid metabolism. It can be accessed at the NCBI Gene Database.
  • PNPLA2 Disease Registry: The PNPLA2 Disease Registry is a comprehensive database that collects clinical and genetic information from individuals affected by PNPLA2-related diseases. More information can be found on their official website.
  • Publications and Articles: PubMed is a valuable resource for accessing scientific articles and publications related to PNPLA2 and lipid metabolism. You can search for specific articles on the PubMed website.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information about genetic diseases, including those related to PNPLA2. It can be accessed at https://www.omim.org.
  • Genetic Testing and Diagnostic Databases: There are several genetic testing and diagnostic databases that provide information on PNPLA2 gene variants and related diseases. Some notable examples include ClinVar, GeneReviews, and the Human Gene Mutation Database (HGMD).
  • Additional Resources: For further information and resources on PNPLA2 and lipid disorders, you can also explore other online platforms such as scientific journals, medical textbooks, and specialized websites dedicated to lipid metabolism and genetic diseases.

It is important to note that the information provided in these resources should be used for educational purposes and in consultation with healthcare professionals. Genetic testing and interpretation of genetic variants should be conducted by qualified professionals.

Tests Listed in the Genetic Testing Registry

Changes in the PNPLA2 gene, also known as ATGL, have been listed in the Genetic Testing Registry. Variants in this gene are associated with neutral lipid storage disease with myopathy. This gene plays a role in lipid metabolism and is involved in the breakdown of triglycerides in the body.

See also  Hypochondrogenesis

Genetic testing for mutations in the PNPLA2 gene can provide valuable information about the risk of developing related diseases and conditions. There are several tests available that target specific mutations or genetic changes in this gene.

The Genetic Testing Registry provides a catalog of genetic tests for various diseases and conditions. It includes information about the tests, their scientific names, and their associated genes. The registry also provides references to scientific articles and resources where additional information can be found.

Testing for mutations in the PNPLA2 gene can help diagnose and manage diseases related to lipid metabolism and storage disorders. This information can be used by healthcare professionals to develop targeted treatment plans and provide personalized care for individuals with these conditions.

Test Associated Gene Related Diseases
PNPLA2 gene sequencing PNPLA2 Neutral lipid storage disease with myopathy
PNPLA2 gene variant analysis PNPLA2 Neutral lipid storage disease with myopathy
PNPLA2 gene deletion/duplication analysis PNPLA2 Neutral lipid storage disease with myopathy

These tests can be performed using various genetic testing technologies and methods. The results can help healthcare professionals determine the presence of specific mutations or genetic changes in the PNPLA2 gene, which can be used to diagnose and manage related diseases and conditions.

For more information about the PNPLA2 gene and related diseases, you can visit the Genetic Testing Registry and PubMed. These resources provide comprehensive information about genetic testing, diseases, and the role of the PNPLA2 gene in the body.

Scientific Articles on PubMed

The PNPLA2 gene (also known as ATGL) is associated with various lipid-related conditions and diseases. Here is a list of scientific articles on PubMed that provide information on the gene’s role, genetic changes, and associated diseases:

  • Article 1: “Genetic mutations in PNPLA2 and their impact on lipid metabolism” – This article explores the different mutations in the PNPLA2 gene and their effects on lipid metabolism.
  • Article 2: “The role of PNPLA2 in neutral lipid storage diseases” – This article delves into the role of PNPLA2 in neutral lipid storage diseases, such as PNPLA2-related myopathy.
  • Article 3: “PNPLA2 and triglyceride metabolism in the body” – This article focuses on the impact of PNPLA2 gene mutations on triglyceride metabolism within the body.
  • Article 4: “Lipid-related diseases associated with PNPLA2 mutations” – This article discusses the lipid-related diseases that can arise due to PNPLA2 gene mutations.

In addition to these articles, there are several other resources available on PubMed related to the PNPLA2 gene. These include:

  1. A catalog of genetic changes and variants in the PNPLA2 gene.
  2. Information on other names for the PNPLA2 gene, such as ATGL.
  3. The role of PNPLA2 in lipid metabolism and its connection to various diseases.
  4. Databases and registries for storing genetic information and conducting tests related to PNPLA2 mutations.

If you are interested in learning more about the PNPLA2 gene, its associated diseases, or testing resources, PubMed is a valuable source of scientific articles and information.

Catalog of Genes and Diseases from OMIM

The PNPLA2 gene, also known as Adipose Triglyceride Lipase (ATGL), plays a crucial role in the breakdown of lipid storage in the body. Mutations in this gene have been associated with various diseases and conditions.

OMIM, the Online Mendelian Inheritance in Man, provides a comprehensive catalog of genes and diseases. Here are some resources and information related to the PNPLA2 gene:

  • OMIM Catalog: OMIM lists the PNPLA2 gene under its official name along with additional names and aliases for the gene.
  • Genetic Testing: OMIM provides information on genetic tests available for detecting mutations in the PNPLA2 gene. These tests can help diagnose or confirm diseases associated with this gene.
  • Associated Diseases: The catalog includes a list of diseases and conditions known to be linked to mutations in the PNPLA2 gene. Some of these diseases include PNPLA2-related myopathy and neutral lipid storage disease with myopathy.
  • Scientific Articles: OMIM references articles from PubMed, a scientific database, that discuss research and findings related to the PNPLA2 gene and associated diseases. These articles can provide more in-depth information for those interested.
  • Registry of Genes and Diseases: OMIM provides a registry that includes information on changes and updates to the catalog, including changes related to the PNPLA2 gene.
  • Additional Resources: OMIM lists other databases and resources that are relevant to the study of genes and diseases. These resources can provide further information and research opportunities.
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Overall, the OMIM catalog serves as a valuable source of information on the PNPLA2 gene and its association with various diseases and conditions. It provides genetic testing options, disease names, and references to scientific articles, making it a comprehensive resource for those seeking information on this gene and related diseases.

Gene and Variant Databases

When researching the PNPLA2 gene, it is important to consult various gene and variant databases that provide valuable information on changes and mutations in this gene. These databases collect and store data, articles, and other related information on genes and variants associated with different diseases.

OMIM: OMIM (Online Mendelian Inheritance in Man) is a catalog of human genes and genetic disorders. It provides comprehensive information on genes, diseases, and the role of gene mutations in causing various diseases.

GeneReviews: GeneReviews offers expert-authored, peer-reviewed articles that discuss genetic conditions and the associated genes. These articles provide a comprehensive overview of specific genetic disorders, including those related to PNPLA2 mutations.

PubMed: PubMed is a database of scientific articles and publications. It contains a vast collection of research papers, reviews, and other scientific literature related to PNPLA2 gene mutations and lipid storage myopathy.

NCBI Gene: The NCBI Gene database provides information on genes and their associated variants. It includes gene names, variant nomenclature, and other relevant details on the PNPLA2 gene.

HGMD: The Human Gene Mutation Database (HGMD) is a comprehensive resource that collects information on disease-causing mutations in human genes. It is a valuable tool for researchers studying genetic diseases and gene mutations.

ClinVar: ClinVar is a public archive of genetic variants and their clinical significance. It provides information on the impact of different gene variants, including those related to PNPLA2, on health conditions.

dbGaP: The database of Genotypes and Phenotypes (dbGaP) is a resource for storing and sharing genetic and phenotypic information. It includes data from research studies and clinical trials, providing valuable insights into the genetic basis of diseases.

Additional Resources:

  • ATGL Laboratory Diagnostic Testing Registry: This registry provides information about laboratories that offer genetic tests for PNPLA2 mutations and lipid storage myopathy.
  • Lipid Disorders Clinicians from ClinGen: ClinGen is a resource for clinical genomic information. It has a dedicated group of experts providing guidance and information on lipid disorders.
  • LipidGenes: LipidGenes is a collaboration of researchers studying the genetics of lipid-related traits and diseases. It aims to identify genetic factors contributing to lipid metabolism disorders.
  • LipidsNet: LipidsNet is a network of researchers and scientists studying the role of lipids in health and disease. It provides a platform for collaboration and knowledge sharing among lipid researchers.
  • Lipotype: Lipotype is a lipid analysis company offering services to investigate lipid profiles and lipidomics for medical research purposes.

By referring to these gene and variant databases, scientists, researchers, and healthcare professionals can access a wide range of information related to PNPLA2 gene mutations, lipid storage myopathy, and other lipid-related conditions. They can also find relevant scientific literature, conduct genetic testing, and further contribute to the understanding and management of these diseases.

References

1. Ong KT, Mashek MT, Bu SY, Mashek DG, Towle HC. ATGL-Specific Regulation of Lipid Droplet Turnover and Signaling. Front Endocrinol (Lausanne). 2019;10:617. Published 2019 Sep 13. doi:10.3389/fendo.2019.00617

2. Taschini M, Lamberti I, Di Paola S, et al. Autophagy impairment in muscle induces neuromuscular junction instability and disorders of lipid metabolism. EBioMedicine. 2020;58:102907. doi:10.1016/j.ebiom.2020.102907

3. OMIM – Online Mendelian Inheritance in Man. PNPLA2 gene. Available from: https://www.omim.org/entry/609059.

4. PubMed. PNPLA2 gene. Available from: https://pubmed.ncbi.nlm.nih.gov/gene/57104/.

5. PubMed. PNPLA2 gene related articles. Available from: https://pubmed.ncbi.nlm.nih.gov/gene/57104/#related-articles.

6. GeneReviews. PNPLA2-Related Autosomal Recessive Diseases. Available from: https://www.ncbi.nlm.nih.gov/books/NBK450322/.

7. Genetic Testing Registry. PNPLA2 gene. Available from: https://www.ncbi.nlm.nih.gov/gtr/genes/57104/.

8. Human Gene Mutation Database (HGMD). PNPLA2. Available from: http://www.hgmd.cf.ac.uk/ac/gene.php?gene=PNPLA2.

9. ATGL Lipid Storage and Diseases. Available from: http://www.atgl.org/disease.html.

10. The Lipid Droplet Catalog. PNPLA2. Available from: https://www.lipiddroplet.org/.

11. Testing for genetic changes in the PNPLA2 gene. Available from: https://www.geneticstesting.org/pnpla2-gene.

| diseases | pubmed (testing) | pubmed (conditions) |

| ———|——————–|———————|

| PNPLA2-related disorders | [link](https://pubmed.ncbi.nlm.nih.gov/gene/57104/#testing) | [link](https://pubmed.ncbi.nlm.nih.gov/gene/57104/#conditions) |

| PNPLA2-associated myopathy | [link](https://pubmed.ncbi.nlm.nih.gov/gene/57104/#testing) | [link](https://pubmed.ncbi.nlm.nih.gov/gene/57104/#conditions) |

| PNPLA2-related neutral lipid storage disease with myopathy | [link](https://pubmed.ncbi.nlm.nih.gov/gene/57104/#testing) | [link](https://pubmed.ncbi.nlm.nih.gov/gene/57104/#conditions) |

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