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The MATR3 gene, also known as matrin 3, is a gene that provides instructions for making a protein called matrin 3. This gene is found on chromosome 5 and is involved in various cellular processes, including mRNA splicing, DNA repair, and the organization of nuclear structures.

In humans, mutations in the MATR3 gene have been linked to several genetic conditions, including amyotrophic lateral sclerosis, distal myopathy, and myopathy with different clinical presentations. These conditions are characterized by muscle weakness, muscle wasting, and various other symptoms.

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides genetic information on different diseases and conditions. The MATR3 gene is listed in the OMIM database with additional information on genetic changes associated with the conditions mentioned above.

Scientific articles and reference databases, such as PubMed, also provide valuable information on the genetic effects of the MATR3 gene. These resources offer insights into the role of matrin 3 proteins in various cellular processes and their potential impact on human health.

Genetic testing and variant analysis can be performed to identify changes in the MATR3 gene that may be associated with specific diseases. This type of testing can help in the diagnosis and management of individuals with conditions related to MATR3 gene mutations.

In summary, the MATR3 gene is an important gene involved in various cellular processes. Mutations in this gene have been linked to several genetic conditions, and resources such as OMIM, PubMed, and genetic testing can provide valuable information on the genetic effects of the MATR3 gene and associated diseases.

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Genetic changes in the MATR3 gene can lead to various health conditions. The MATR3 gene provides instructions for producing the matrin-3 protein, which is found in the nucleus of cells and is involved in the organization and regulation of DNA.

Changes in the MATR3 gene can result in different variants of matrin-3 protein, causing alterations in its function. These genetic variants are associated with several diseases, including:

  • Lateral sclerosis
  • Distal myopathy
  • Amyotrophic lateral sclerosis

Genetic testing for MATR3 gene variants is available and can be used for diagnostic purposes. Tests can be conducted to identify specific changes in the MATR3 gene that are associated with these health conditions.

Additional information on genetic changes in the MATR3 gene, as well as other genes related to these conditions, can be found in scientific articles and databases such as PubMed, OMIM, and the MATR3 Gene Testing Registry. These resources provide references to published articles, databases, and other sources of information on the genetics of distal myopathy, amyotrophic lateral sclerosis, and other related conditions.

Distal myopathy 2

Distal myopathy 2, also known as MATR3-related myopathy, is a genetic condition caused by mutations in the MATR3 gene. MATR3, or matrin-3, is a protein that plays a role in maintaining the structure and function of the cell nucleus.

This type of distal myopathy is characterized by muscle weakness and wasting in the distal muscles, particularly those of the hands and feet. The symptoms typically appear in adulthood, often in the third or fourth decade of life. The condition progresses slowly, leading to difficulty with tasks that require fine motor skills, such as writing or buttoning a shirt.

Additional features of MATR3-related myopathy can include vocal cord weakness and respiratory muscle involvement, which may lead to hoarseness and respiratory problems. Some individuals with this condition may also develop muscle stiffness or myalgia, which is muscle pain.

Distal myopathy 2 is classified as a subtype of distal myopathy, a group of genetic muscle disorders that primarily affect the distal muscles. Other subtypes of distal myopathy include distal myopathy 1 (TIA1-related), distal myopathy 3 (GNE-related), and distal myopathy with vocal cord and pharyngeal weakness (GNE-related).

Diagnosis of distal myopathy 2 is typically based on clinical findings and confirmed with genetic testing. Genetic testing can identify changes (mutations) in the MATR3 gene, which are responsible for causing the condition. If a mutation in the MATR3 gene is identified, other family members can be tested to determine if they are at risk of developing the condition.

See also  KCNQ1 gene

There are currently no specific treatments for distal myopathy 2. Management of the condition typically involves addressing the individual symptoms and maintaining overall health. Occupational and physical therapy may be beneficial in managing muscle weakness and maintaining mobility.

For more information about distal myopathy 2 and other related conditions, you can visit the following resources:

  • PubMed: A database of scientific articles on various topics, including distal myopathy 2.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides information on the genetic basis of human diseases, including distal myopathy 2.
  • Genetic Testing Registry: A centralized resource that provides information about genetic tests for distal myopathy 2 and other genetic conditions.
  • NCBI Gene: A database of genes and their associated genetic variants, including those related to distal myopathy 2.
  • Myopathy, distal, 2: A catalog of genetic changes in the MATR3 gene and their associated clinical conditions.

For further information, you can also refer to the articles and references listed in these resources.

Amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis (ALS) is a genetic disorder characterized by the degeneration and death of motor neurons in the brain and spinal cord. It leads to progressive muscle weakness and eventual paralysis. ALS is also known as Lou Gehrig’s disease, named after the famous baseball player who was diagnosed with this condition in the 1930s.

The MATR3 gene is a gene that has been associated with ALS. Mutations in the MATR3 gene have been found in a small number of individuals with familial ALS, a form of the disease that runs in families. These mutations are believed to disrupt the normal function of the matrin-3 protein, which is produced from the MATR3 gene.

In addition to ALS, mutations in the MATR3 gene have also been associated with distal myopathy, a muscle disorder characterized by weakness and wasting of the muscles in the hands, forearms, and lower legs. The specific changes in the MATR3 gene that cause distal myopathy are different from the changes seen in ALS.

There are several databases and resources available for obtaining more information on the MATR3 gene and related conditions. The OMIM database and the GeneCards database are two scientific resources that provide information on genes, diseases, and genetic variants. PubMed is another useful resource for finding scientific articles on the MATR3 gene and its role in ALS and distal myopathy.

Genetic testing is available for mutations in the MATR3 gene for individuals who are suspected to have ALS or distal myopathy. These tests can help confirm a diagnosis and provide information on the specific genetic variant present. Other tests, such as electromyography and muscle biopsy, may also be used to diagnose and characterize ALS and distal myopathy.

For more information on ALS, genetic testing, and related conditions, individuals and families can consult resources such as the ALS Association and the Genetic and Rare Diseases Information Center. These organizations provide information on symptoms, management, treatment options, and support services for individuals with ALS and other genetic conditions.

References:

Other Names for This Gene

There are several other names for the MATR3 gene:

  • Matrin-3
  • Distal Myopathy with Vocal Cord and Pharyngeal Weakness
  • Autopsy findings: sarcoplasmic protein aggregates
  • Autosomal dominant amyotrophic lateral sclerosis type 21
  • Distal myopathy with vocal cord and pharyngeal weakness
  • Distal myopathy, MATR3-related
  • MATR3 mutation-positive distal myopathy
  • Myopathy, distal, with vocal cord weakness
  • Myopathy, distal, with vocal cord and pharyngeal weakness
  • RNA-binding protein MATR3
  • Sarcoplasmic protein aggregates
  • Spinal muscular atrophy, distal, autosomal dominant, 1
  • Vocal cord and pharyngeal weakness with distal muscle weakness

These names are used in scientific literature, databases, and health resources to refer to the MATR3 gene. They provide related information on conditions, genetic changes, testing resources, and other proteins or genes listed in the OMIM gene catalog of genetic diseases.

Additional Information Resources

Here is a list of additional resources for obtaining more information about the MATR3 gene and related topics:

  • Online Mendelian Inheritance in Man (OMIM): This is a comprehensive database that provides detailed information about genetic diseases and the genes that are associated with them. The OMIM entry for the MATR3 gene includes information about mutations, clinical features, and references to relevant scientific articles.
  • PubMed: This is a database of scientific articles in the field of biomedicine. Searching for “MATR3 gene” on PubMed can provide access to the latest research papers and studies related to this gene and its role in various diseases.
  • Genetic Testing Databases: There are several genetic testing databases that offer information about the MATR3 gene and its involvement in different conditions. These databases can provide details on available tests, names of other related genes, and any changes or variants that have been cataloged.
  • Registry for Research on Amyotrophic Lateral Sclerosis (ALS) and Related Diseases: This registry focuses on collecting data on individuals with ALS and related diseases, including those associated with the MATR3 gene. The registry can provide information on ongoing research, clinical trials, and resources for individuals affected by these conditions.
  • Health organization websites: Many health organizations have dedicated webpages that provide information on specific diseases or genetic conditions. Checking the websites of organizations such as the Muscular Dystrophy Association or the ALS Association can provide further information on MATR3-related diseases.
  • References: Scientific articles and literature are valuable resources for obtaining in-depth information about the MATR3 gene and its involvement in various diseases. References provided in research papers can lead to further reading material on this topic.
See also  KLKB1 gene

By exploring these resources, you can gain a better understanding of the role of the MATR3 gene in health and disease, as well as access the latest research and clinical information.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a comprehensive database that catalogs genetic tests for various diseases and conditions. In the case of the MATR3 gene, the GTR lists several tests related to distal myopathy, amyotrophic lateral sclerosis (ALS), and other conditions.

This gene, also known as matrin-3, plays a crucial role in RNA processing and protein regulation. Changes or variants in the MATR3 gene have been linked to various diseases and conditions.

In the GTR, you can find tests specifically designed to detect genetic changes in the MATR3 gene. These tests can help diagnose or assess the risk of developing distal myopathy, ALS, and other related conditions.

Additional resources for genetic testing related to the MATR3 gene can be found in scientific articles and databases such as PubMed, OMIM, and other health resources. These resources provide valuable information on the genetic changes, proteins, and RNAs associated with this gene.

Tests listed in the GTR for the MATR3 gene:

  • Test 1: Detection of genetic changes in the MATR3 gene for distal myopathy
  • Test 2: Assessment of MATR3 gene variants for amyotrophic lateral sclerosis
  • Test 3: Screening for MATR3 gene mutations in other related diseases and conditions

These tests play a crucial role in the diagnosis and management of diseases and conditions associated with the MATR3 gene. They provide insights into the genetic basis of these conditions and help guide treatment decisions.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to the MATR3 gene and its associated conditions. Through PubMed, researchers and healthcare professionals can access a wide range of publications that contribute to the understanding of MATR3 and its role in various diseases and genetic conditions.

Matrin-3, encoded by the MATR3 gene, is a protein that plays important roles in RNA processing and nuclear architecture. Mutations in this gene have been linked to several diseases, including distal myopathy, amyotrophic lateral sclerosis (ALS), and other related conditions. Scientists have conducted numerous studies to investigate the impact of these mutations on the function of matrin-3 and the development of these diseases.

Testing for MATR3 mutations can be performed as part of genetic testing panels for muscle diseases or neurological conditions. In addition to the MATR3 gene, these panels may include other genes that are known to be associated with distal myopathies, ALS, or other relevant conditions. Several commercial genetic testing companies offer these panels, which can help diagnose patients with these conditions and identify potential treatment options.

PubMed provides access to a vast catalog of scientific articles that explore various aspects of the MATR3 gene, including its structure, function, and the effects of genetic changes. These articles can be a valuable resource for researchers, healthcare professionals, and patients seeking to understand the role of the MATR3 gene in different diseases and conditions.

The PubMed database also includes references to resources such as OMIM (Online Mendelian Inheritance in Man), which provides comprehensive information on genetic conditions, genes, and variants. By searching for the gene name MATR3 or specific variants associated with myopathy or ALS, users can find relevant articles and resources listed in PubMed.

Overall, PubMed offers a wealth of scientific articles and resources that can contribute to the understanding of MATR3 and its role in various genetic conditions. By accessing these articles, researchers and healthcare professionals can stay updated on the latest discoveries and advancements in the field, ultimately leading to improved diagnosis, treatment, and management of these diseases.

See also  Angelman syndrome

Catalog of Genes and Diseases from OMIM

Welcome to the OMIM Catalog, a comprehensive scientific resource that provides information on genetic variants and their associated conditions. OMIM, which stands for Online Mendelian Inheritance in Man, is a registry of genes and genetic diseases.

This catalog includes genetic variant names, additional genetic information, and related conditions. It serves as a valuable tool for researchers, healthcare professionals, and individuals seeking information on genetic conditions.

The catalog on MATR3 gene provides information on the matrin-3 protein, encoded by the MATR3 gene. MATR3 gene is associated with distal myopathy, a condition characterized by muscle weakness in the hands, forearms, and lower legs. The catalog lists the genetic changes, or variants, in the MATR3 gene that are associated with this condition.

In addition to distal myopathy, the catalog also lists other diseases associated with the MATR3 gene. These include amyotrophic lateral sclerosis (ALS) and other related conditions. For further information, the catalog provides references to articles in PubMed and OMIM.

The OMIM Catalog is a valuable resource for researchers and healthcare professionals who study genetic diseases. It provides a comprehensive list of genes and associated conditions, along with references and resources for further information and testing.

References
Gene Disease PubMed Articles
MATR3 Distal Myopathy 2
MATR3 Amyotrophic Lateral Sclerosis 4

By referring to the OMIM Catalog, researchers and healthcare professionals can access a wealth of information on genes, diseases, and genetic variants, which can aid in their scientific endeavors and improve patient care.

Gene and Variant Databases

Gene and variant databases play a crucial role in the study of genetic disorders, such as myopathy. These databases provide comprehensive information about genes, variants, and associated diseases, enabling scientists and healthcare professionals to better understand and diagnose these conditions.

One widely used gene database is OMIM (Online Mendelian Inheritance in Man), which catalogs genetic diseases and conditions. It includes information on the MATR3 gene and its variants, such as the matrin-3 (MATR3) gene variant associated with distal myopathy 2. OMIM provides detailed descriptions of the gene, its associated diseases, and relevant scientific articles and references.

Another important resource is the GeneTests directory, which lists genetic testing laboratories that offer testing for various genetic conditions. This directory includes labs that offer testing for MATR3 gene variants related to myopathy and other conditions. Healthcare providers can use this resource to find labs offering specific genetic tests for personalized patient care.

PubMed, a database of scientific articles, is also a valuable resource for researchers studying the relationship between the MATR3 gene and myopathy. It contains a wealth of published research papers, allowing scientists to stay up-to-date with the latest findings and advancements in the field. Researchers can search for specific keywords, such as “MATR3 myopathy,” to find relevant articles.

In addition to these databases, there are other gene and variant databases that provide further information on the MATR3 gene and related conditions. These databases often include additional resources, such as protein information, changes in RNA expression, and links to other related genes and proteins. Some of these databases include the Genetic Testing Registry (GTR), Catalog of Somatic Mutations in Cancer (COSMIC), and the Human Gene Mutation Database (HGMD).

Overall, gene and variant databases are essential tools for researchers, healthcare professionals, and individuals seeking information on genetic disorders. They provide a centralized and comprehensive repository of information that can aid in understanding the underlying genetic causes of diseases, improving diagnosis and treatment options for patients.

References

  • amyotrophic lateral sclerosis – Genetics Home Reference. U.S. National Library of Medicine. https://ghr.nlm.nih.gov/gene/MATR3#resources
  • Databases of mutations and SNPs for matrin 3 (MATR3) – listed in HGMD, Ensembl, etc. – are described in this PubMed article: “Mutations in Matrin 3 cause familial amyotrophic lateral sclerosis” by Johnson JO, et al.
  • Additional information on MATR3 can be found in the OMIM (Online Mendelian Inheritance in Man) database. The entry for MATR3 can be accessed at: https://www.omim.org/entry/164015
  • Other scientific articles related to MATR3 and its role in various genetic conditions and diseases can be found on PubMed. Search for “MATR3” to find a list of articles: https://pubmed.ncbi.nlm.nih.gov/?term=MATR3
  • The Catalog of Human Genetic Variants (formerly known as the Human Gene Mutation Database) provides information on genetic changes and variants in the MATR3 gene and their association with different diseases. Access the database at: https://www.uniprot.org/docs/hgvd
  • Information on genetic testing for MATR3-related conditions, such as distal myopathy and amyotrophic lateral sclerosis, can be obtained from genetic testing resources and laboratories. Check with your local healthcare provider or genetic testing registry for available tests.

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