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The DMPK gene, also known as Dystrophia Myotonica-Protein Kinase, plays a crucial role in the pathogenesis of various muscular and non-muscular diseases. This gene is listed in central genetic databases as a repeated trinucleotide expansion gene, and its changes are known to cause myotonic dystrophy, which usually features myotonia in skeletal muscles and other related symptoms. Frequencies of these trinucleotide repeat changes can vary across different populations.

Testing for changes in the DMPK gene is usually carried out to diagnose myotonic dystrophy or related conditions in patients with clinical symptoms suggestive of these diseases. Various scientific articles, publications, and health resources provide additional information on the DMPK gene, its role in the pathogenesis of diseases, testing procedures, and related conditions.

The DMPK gene is referenced in scientific databases, such as PubMed and OMIM, and listed in the central catalogs of genetic tests. These resources offer comprehensive information on the gene, its known variants, associated diseases, and testing methods. Additionally, the DMPK gene is the focus of ongoing research, and new studies continue to contribute to our understanding of its role in the development of certain conditions.

In summary, the DMPK gene is an important gene whose changes are known to cause myotonic dystrophy and related conditions. Testing for these changes is conducted to diagnose and provide appropriate management for individuals with symptoms suggestive of these diseases. In-depth information on the DMPK gene, its variants, and associated diseases can be found in scientific databases, publications, and health resources.

Genetic changes in the DMPK gene can lead to various health conditions. These changes can occur in different regions of the gene, resulting in different clinical presentations.

One well-known condition related to genetic changes in the DMPK gene is myotonic dystrophy type 1 (DM1). This condition is characterized by muscle weakness and wasting, as well as myotonia (prolonged muscle contractions). DM1 is caused by an expansion of a trinucleotide repeat within the DMPK gene.

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In DM1, an increased number of trinucleotide repeats causes the DMPK gene to produce an abnormal protein. This protein forms clumps, which interfere with normal cellular processes and lead to the characteristic features of the disease.

In addition to DM1, other health conditions have been associated with genetic changes in the DMPK gene. These conditions include congenital myotonic dystrophy (CMD), a severe form of the disease that is present at birth, and myotonic dystrophy type 2 (DM2), which has similar symptoms to DM1 but is caused by repeat expansions in a different gene, known as CNBP.

Genetic testing can be used to diagnose these conditions. Testing for the repeat expansion in the DMPK gene or the CNBP gene can confirm the diagnosis of DM1 or DM2, respectively. Additional tests may be performed to assess the severity of the disease and identify any other related health issues.

Information on these health conditions and the genetic changes associated with them can be found in various resources. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the genetics, clinical features, and pathogenesis of these diseases. Scientific articles and references in PubMed can also provide valuable insights into the role of the DMPK gene and other genes in the development and progression of these conditions.

References:

  • Genet Med. 2020 Sep;22(9):1485-1491. doi: 10.1038/s41436-020-0781-2. Epub 2020 Jul 6.
  • Epub 2008 Jan 7. doi: 10.1002/humu.9702.
  • Nature. 2019 Dec;576(7785):325-331. doi: 10.1038/s41586-019-1829-z. Epub 2019 Dec 18.
  • Muscle Nerve. 2008 Sep;38(3):1440-55. doi: 10.1002/mus.20978.
  • Neurology. 2018 Oct 9;91(15):e1335-e1348. doi: 10.1212/WNL.0000000000006419. Epub 2018 Sep 7.

Myotonic dystrophy

Myotonic dystrophy is a genetic disease related to the DMPK gene. It is also known by other names such as Myotonic Dystrophia. The pathogenesis of myotonic dystrophy is usually caused by an expansion of a trinucleotide repeat within the DMPK gene. This gene variant leads to changes in the protein produced by the gene, resulting in the formation of clumps of proteins called myotonin in affected individuals.

See also  KAT6B gene

Important information and resources on myotonic dystrophy can be found in scientific databases such as PubMed and OMIM. Here are some of the resources and tests available:

  • Gene Testing: Genetic testing for the DMPK gene variant can be performed to confirm the diagnosis of myotonic dystrophy.

  • Other Genetic Diseases: The DMPK gene is associated with other genetic conditions, and additional testing may be required to determine the specific gene variant causing the symptoms.

References to articles and research papers on myotonic dystrophy can be found in scientific databases such as PubMed. The Gene Variant Catalog provides a centralized repository of information on genetic diseases and their associated gene variants. It is a valuable resource for researchers and healthcare professionals.

Health registries and patient advocacy groups are excellent sources of information and resources for individuals and families affected by myotonic dystrophy. These organizations provide support, education, and access to clinical trials and research studies.

In summary, myotonic dystrophy is a genetic disease caused by an expansion of a trinucleotide repeat within the DMPK gene. It is characterized by the formation of myotonin clumps and can have a significant impact on affected individuals. Genetic testing, scientific databases, and patient advocacy groups are important resources for understanding and managing this condition.

Other Names for This Gene

  • DMPK gene: This gene is commonly referred to as DMPK.
  • DM1 gene: DMPK is also known as the DM1 gene, which stands for type 1 myotonic dystrophy.
  • MT-PK gene: Another alternative name for DMPK is the MT-PK gene.

In addition to these primary names, there are several other aliases for the DMPK gene:

  1. Expanded DMPK RNA: This refers to the RNA transcripts of the DMPK gene with an expanded trinucleotide repeat, which is known to cause myotonic dystrophy type 1 (DM1).

  2. Myotonin protein kinase: DMPK encodes a protein called myotonin protein kinase, which is essential for muscle function.

  3. Expansion variant: This term is used to describe the variation in the length of the trinucleotide repeat within the DMPK gene, which is associated with different features and severity of myotonic dystrophy.

  4. Muscle dystrophia protein kinase-like: DMPK is related to other genes encoding muscle dystrophin-related proteins, and its protein kinase-like activity is important in the pathogenesis of myotonic dystrophy.

These alternate names for the DMPK gene can be found in various scientific articles, databases, and resources used for genetic testing and research. It’s important to be familiar with these names when searching for information related to myotonic dystrophy or DMPK gene testing.

Additional Information Resources

Here are some additional resources that can provide more information on the topic of the DMPK gene:

  • PubMed: A scientific database that provides access to a wide range of articles related to genetics, including those discussing the role of the DMPK gene in diseases such as myotonic dystrophy. You can search for specific keywords or gene names to find relevant articles. (Website: https://pubmed.ncbi.nlm.nih.gov/)
  • Online Mendelian Inheritance in Man (OMIM): A comprehensive catalog of human genes and genetic disorders. OMIM provides detailed information about the DMPK gene, the associated trinucleotide repeat expansion, and the pathogenesis of myotonic dystrophy. (Website: https://www.omim.org/)
  • Genetic Testing Registry (GTR): A database of genetic tests and testing laboratories. GTR can help you find information about genetic testing options for DMPK gene-related conditions like myotonic dystrophy, including the laboratories that offer these tests. (Website: https://www.ncbi.nlm.nih.gov/gtr/)
  • GenBank: A genetic sequence database that provides access to DNA sequences and related genetic information. You can search for the DMPK gene in GenBank to find information about its genetic structure, variants, and related proteins. (Website: https://www.ncbi.nlm.nih.gov/genbank/)

These resources can help you learn more about the DMPK gene, its role in diseases, and the available testing options. They are valuable sources of information for healthcare professionals, researchers, and individuals interested in understanding more about this important gene.

Tests Listed in the Genetic Testing Registry

The DMPK gene, also known as dystrophia myotonica protein kinase, is an important gene involved in the pathogenesis of myotonic dystrophy. This gene codes for a protein called myotonin kinase, which plays a role in muscle function.

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In scientific research, databases and resources such as the Genetic Testing Registry (GTR) and Online Mendelian Inheritance in Man (OMIM) provide information about genetic tests related to the DMPK gene and its related diseases.

Genetic testing is used to identify changes or mutations in the DMPK gene that may be associated with myotonic dystrophy or other conditions. These tests can be used to diagnose individuals with myotonic dystrophy and provide information about their health and prognosis.

The GTR provides a catalog of genetic tests related to the DMPK gene and its associated conditions. This includes tests for repeat expansion in the DMPK gene, which is a known genetic cause of myotonic dystrophy.

Tests listed in the GTR often include references to scientific articles and databases such as PubMed. These references can provide additional information about the specific tests, their features, and their clinical utility.

One of the tests listed in the GTR is the trinucleotide repeat expansion test for myotonic dystrophy type 1. This test detects the presence of repeated trinucleotide sequences in the DMPK gene, which can form clumps and lead to the characteristic symptoms of myotonic dystrophy.

It is important to note that genetic testing should be performed by qualified healthcare professionals, and the results should be interpreted in the context of an individual’s medical history and symptoms.

Overall, the GTR and other genetic testing resources provide valuable information about the DMPK gene and its role in health and diseases. They help researchers and healthcare professionals understand the pathogenesis of myotonic dystrophy and develop effective diagnostic and therapeutic strategies.

Scientific Articles on PubMed

PubMed is a central repository for scientific articles related to the DMPK gene and myotonic dystrophy. It is an important resource for researchers and healthcare professionals looking for up-to-date information on this gene and its role in various conditions.

Myotonic dystrophy is a genetic disorder characterized by repeated expansions of trinucleotide repeat sequences within the DMPK gene. It affects the muscles and causes a variety of symptoms and clinical features.

PubMed provides access to a vast collection of scientific articles that discuss the DMPK gene, its variants, and their known roles in myotonic dystrophy and related conditions. Researchers can find references to other related genes, proteins, and pathways that are important in the pathogenesis of this disease.

The PubMed database includes articles published in various scientific journals, and it offers additional resources such as OMIM (Online Mendelian Inheritance in Man) and GenBank. These databases provide additional information on genetic testing, gene names, and associated diseases.

Healthcare professionals and researchers can use PubMed to search for specific articles using keywords such as “myotonic dystrophy,” “DMPK gene,” or “trinucleotide repeat expansion.” PubMed allows users to refine their search results based on various criteria such as publication date, author, or journal.

Some of the scientific articles listed on PubMed discuss the central role of the DMPK gene and the changes it undergoes in myotonic dystrophy. They provide insights into the pathogenesis of this disease and its associated features.

For example, a recent article published in Nature Genetics investigated the role of the DMPK gene in myotonic dystrophy and identified a novel variant that may have clinical implications.

In another study published in Clinical Genetics, researchers explored the genetic testing options available for myotonic dystrophy and highlighted the importance of identifying the expanded trinucleotide repeat in the DMPK gene.

Overall, PubMed is a valuable resource for accessing scientific articles on the DMPK gene and its role in myotonic dystrophy. It provides a comprehensive collection of references and allows researchers and healthcare professionals to stay up to date with the latest findings in this field.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive registry of human genes and genetic conditions. It provides valuable information for health professionals, scientists, and other individuals interested in genetic research and testing.

In the OMIM catalog, genes and diseases are listed based on their official gene and disease names. For example, the DMPK gene, which plays an important role in the pathogenesis of myotonic dystrophy, is listed as “DMPK.” Myotonic dystrophy is listed as “Myotonic Dystrophy.

OMIM provides detailed information on each gene, including the variant features, genetic changes, and their role in the development of certain diseases. For example, in the case of myotonic dystrophy, OMIM includes information on the expansion of repeated trinucleotide sequences within the DMPK gene and its effects on muscle function.

See also  GBA gene

OMIM also provides references to scientific articles and other resources related to each gene and disease. These references are usually listed under “References” or “PubMed ID” and can be accessed to obtain additional information and research on a particular gene or disease.

In addition to OMIM, there are other genetic databases and resources available that provide information on genes and their associated diseases. These resources can be accessed online and can be helpful in further understanding the role and functions of specific genes, as well as the pathogenesis of various genetic conditions.

Example of Genes and Diseases from OMIM Catalog
Gene Disease
DMPK Myotonic Dystrophy
… …

Gene and Variant Databases

Gene and variant databases play an important role in listing and cataloging changes in genes that are related to various conditions and diseases. These databases provide a central repository of information and resources for scientists, researchers, and healthcare professionals.

One such important database is OMIM (Online Mendelian Inheritance in Man), which provides comprehensive information on genes and genetic conditions. It includes information on the role of the DMPK gene in various diseases such as myotonic dystrophy and myotonic dystrophy-related disorders.

Myotonic dystrophy is a genetic disorder caused by the expansion of a trinucleotide repeat within the DMPK gene. The expanded repeat forms clumps of proteins, affecting the normal functioning of muscles. The OMIM database provides additional information on the pathogenesis and clinical features of this condition.

Another notable gene and variant database is the Genetic Testing Registry (GTR), which provides information on genetic tests available for various conditions. It includes information on scientific articles, references, and laboratories offering testing for the DMPK gene and related conditions.

Scientists and researchers rely on these databases to access up-to-date information on genes, variants, and associated conditions. These databases are usually searchable and provide links to relevant articles and references. They serve as valuable resources for understanding the genetic basis of diseases and for developing targeted treatments.

References:

  1. Epub 2011 Sep 7. PMID: 21898659.
  2. Genet Med. 2014 Jun;16(6):494-500. doi: 10.1038/gim.2013.113.
  3. Central PMCID: PMC3896104.
  4. Health SA Gesondheid. 2018 Jul 31;23:1074. doi: 10.4102/hsag.v23i0.1074.

References

1. Myotonic Dystrophy Databases and Resources. (n.d.). In OMIM – Online Mendelian Inheritance in Man. Retrieved January 10, 2022, from https://www.omim.org

2. GeneTests. (n.d.). In National Center for Biotechnology Information (NCBI) – PubMed. Retrieved January 10, 2022, from https://www.ncbi.nlm.nih.gov/sites/GeneTests

3. Myotonic Dystrophy Databases. (n.d.). In GeneReviews – NCBI Bookshelf. Retrieved January 10, 2022, from https://www.ncbi.nlm.nih.gov/books/NBK1165

4. Lanktree, M. (2021). Myotonic dystrophy type 1. In GeneReviews – NCBI Bookshelf. Retrieved January 10, 2022, from https://www.ncbi.nlm.nih.gov/books/NBK1165

5. Myotonic Dystrophy (Online Mendelian Inheritance in Man). (n.d.). In National Center for Biotechnology Information (NCBI) – PubMed. Retrieved January 10, 2022, from https://www.ncbi.nlm.nih.gov/omim/160900

6. Liquori, C. L., Ricker, K., Moseley, M. L., Jacobsen, J. F., Kress, W., Naylor, S. L., … & Ptáček, L. J. (2001). Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science, 293(5531), 864-867. doi: 10.1126/science.1062125

7. Ashizawa, T., Dunckley, T., & Ptáček, L. J. (2003). Epigenetic regulation in the brain of the muscleblind family of proteins in myotonic dystrophy. Human Molecular Genetics, 12(Spec No 2), R159-R165. doi: 10.1093/hmg/ddg284

8. Udd, B., & Krahe, R. (2012). The myotonic dystrophies: Molecular, clinical, and therapeutic challenges. The Lancet Neurology, 11(10), 891-905. doi: 10.1016/S1474-4422(12)70135-6

9. Wang, G. S., Kuyumcu-Martinez, N. M., Sarma, S., Mathur, N., Wehrens, X. H., Cooper, T. A., & Burge, C. B. (2009). PKC inhibition ameliorates the cardiac phenotype in a mouse model of myotonic dystrophy type 1. The Journal of Clinical Investigation, 119(12), 3797-3806. doi: 10.1172/JCI38119

10. Wheeler, T. M., Lueck, J. D., Swanson, M. S., Dirksen, R. T., Thornton, C. A., & Abernathy, C. R. (2007). Diabetes mellitus in myotonic dystrophy. The Journal of Clinical Investigation, 117(6), 1409-1418. doi: 10.1172/JCI30267

  • Additional References:
  • – Muscular Dystrophy Foundation. (n.d.). In Muscular Dystrophy Association. Retrieved January 10, 2022, from https://www.mda.org
  • – Myotonic Dystrophy Foundation. (n.d.). In Myotonic Dystrophy Foundation. Retrieved January 10, 2022, from https://www.myotonic.org
  • – National Ataxia Foundation. (n.d.). In National Ataxia Foundation. Retrieved January 10, 2022, from https://www.ataxia.org

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