MTR gene – Austra Health

The MTR gene, also known as the methyltransferase gene, is responsible for producing an enzyme called methionine synthase. This enzyme plays a crucial role in the metabolism of an amino acid called methionine. Mutations in the MTR gene can lead to reduced or dysfunctional methionine synthase, which can result in a variety of disorders.

One of the most well-known disorders associated with MTR gene mutations is homocystinuria, a rare genetic condition characterized by elevated levels of homocysteine in the blood. Homocystinuria can cause a range of health problems, including cardiovascular disease, intellectual disability, and skeletal abnormalities. Genetic testing for mutations in the MTR gene can help diagnose homocystinuria and guide treatment and management strategies.

Information on the MTR gene and associated disorders can be found in scientific articles, databases, and online resources. The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of genes and disorders, including information on the MTR gene and homocystinuria. Additional resources, such as the GeneTests website and PubMed, also offer valuable information, references, and articles on this gene and related conditions.

This article provides an overview of the MTR gene and its role in homocystinuria and other disorders. It highlights the importance of genetic testing, information resources, and scientific literature for understanding the genetic changes and testing options for this gene. By staying informed and educated about the MTR gene, healthcare professionals and individuals can better understand and manage the conditions associated with MTR gene variants.

Health Conditions Related to Genetic Changes

Genetic changes in the MTR gene can lead to various health conditions. One of the conditions associated with these changes is homocystinuria. Homocystinuria is a disorder that affects the body’s ability to process an amino acid called homocysteine. This condition can lead to a wide range of symptoms and health problems, including developmental delay, intellectual disability, vision problems, and an increased risk of blood clots and heart disease.

There are several genetic changes in the MTR gene that can cause homocystinuria. One of the most common variants is called c.2756A>G (p.Tyr919Cys), also known as the Anello variant. This variant reduces the activity of the MTR gene, leading to elevated levels of homocysteine in the body. Individuals with this variant may require specialized medical care and treatment to manage their symptoms and prevent complications.

To diagnose homocystinuria and other genetic disorders related to changes in the MTR gene, specific tests can be conducted. These tests include genetic testing, biochemical tests to measure homocysteine levels, and additional tests to evaluate the individual’s overall health and identify any related health conditions. Genetic testing can identify specific changes in the MTR gene that may be causing the disorder.

Information about health conditions related to genetic changes in the MTR gene can be found in scientific articles, databases, and other resources. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on genetic disorders and the genes involved, including MTR-related disorders. The Genetic Testing Registry (GTR) also contains information on testing and related diseases for MTR and other genes.

References to articles and studies on MTR gene changes and associated health conditions can be found in the scientific literature. PubMed is a valuable resource for accessing these references and identifying relevant studies. Researchers and healthcare professionals can further explore this topic by accessing these resources and staying updated on the latest developments.

Homocystinuria

Homocystinuria is a genetic disorder caused by mutations in the MTR gene. It is a rare health condition that affects the body’s ability to break down the protein building block called methionine. This leads to an increase in levels of homocysteine in the blood, which can cause various health problems.

Homocystinuria is one of several disorders caused by mutations in genes involved in the methionine cycle. The MTR gene provides instructions for making an enzyme called methionine synthase, which helps convert homocysteine to methionine. Mutations in this gene can result in reduced enzyme activity, causing homocysteine levels to build up.

The MTR gene is listed in various genetic databases and resources, such as the Online Mendelian Inheritance in Man (OMIM) and the Human Gene Mutation Database (HGMD). Information about the MTR gene and its associated disorders can be found in these databases, along with references to scientific articles and other resources.

Testing for mutations in the MTR gene can be done through genetic testing laboratories. These tests can detect changes or variants in the gene that are associated with homocystinuria. The results of these tests can provide important information for the diagnosis and management of homocystinuria.

In addition to MTR gene testing, there are also other tests available to evaluate homocystinuria. These include blood tests to measure homocysteine and methionine levels, as well as urine tests to assess the excretion of certain metabolites. These tests can help determine the severity of the condition and guide treatment decisions.

Treatment for homocystinuria typically involves managing the elevated homocysteine levels through dietary changes and the use of supplements. This may include restricting dietary intake of methionine and increasing the intake of certain vitamins and cofactors, such as vitamin B6, vitamin B12, and folate.

It is important for individuals with homocystinuria to work closely with healthcare professionals who specialize in metabolic disorders. These experts can provide guidance on the most appropriate treatment plan and help monitor the individual’s health and well-being.

In summary, homocystinuria is a genetic disorder caused by mutations in the MTR gene. It is associated with elevated levels of homocysteine in the blood and can lead to various health problems. Testing for mutations in the MTR gene and other diagnostic tests can be used to diagnose and manage the condition. Treatment often involves dietary modifications and the use of supplements to reduce homocysteine levels.

Other disorders

In addition to homocystinuria, mutations in the MTR gene have been linked to several other disorders. These conditions are caused by changes in the MTR gene that result in a reduced or absent activity of the methyltransferase enzyme. Some of the other disorders associated with the MTR gene include:

Cbl E disease (OMIM 236270)
Cbl G disease (OMIM 250940)
Cbl-Δ D disease (OMIM 236270)
Cbl-Δ H disease (OMIM 250940)
Transient homocystinuria after nitrous oxide anesthesia

Other Names for This Gene

The MTR gene is also known by other names, including:

Methyltransferase gene
Homocystinuria, cblG type, variant 2 gene
Methyltransferase reductase gene
Methionine synthase gene

These are the scientific names for the MTR gene, which is associated with the development of homocystinuria and related disorders. These names are used in scientific literature and databases to refer to the gene and its variants.

The MTR gene is known to be involved in the methylation pathway, which is responsible for the conversion of homocysteine to methionine. Mutations or changes in this gene can result in reduced activity of the enzyme encoded by the MTR gene, leading to a buildup of homocysteine in the body.

Mutations in the MTR gene are associated with a number of different conditions and diseases, including homocystinuria, a rare genetic disorder characterized by high levels of homocysteine in the blood. Homocystinuria can cause a range of health problems, including intellectual disability, visual abnormalities, skeletal abnormalities, and increased risk of blood clots.

Information about the MTR gene and its variants can be found in various resources, including scientific articles, genetic databases like OMIM and Gene, and testing catalogs. These resources provide additional information on the variants and changes in the gene that are associated with different disorders and conditions.

The MTR gene is one of many genes involved in the methylation pathway and related processes. Other genes involved in these processes include MTRR, CBS, and MMACHC. Testing for mutations in these genes can be done to diagnose or assess the risk of certain disorders and conditions.

References to the MTR gene and its variants can be found in scientific literature on topics related to homocystinuria, methylation pathway disorders, and other conditions involving these genes. PubMed, a catalog of scientific articles, is a commonly used resource for finding references to the MTR gene and related research.

In summary, the MTR gene, also known as the methyltransferase gene, is associated with homocystinuria and related disorders. It has other scientific names and is involved in the methylation pathway and various health conditions. Additional information about this gene can be found in resources such as OMIM, Gene, and PubMed.

Additional Information Resources

For testing information, resources, and databases related to the MTR gene:

The Genetic Testing Registry (GTR) provides information about genetic tests for MTR and other genes associated with homocystinuria and related conditions. It lists the names of the tests, the genes being tested, and provides links to additional scientific articles.
The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of genetic disorders and genes. It includes information on the MTR gene, its variants, and associated diseases.
The PubMed database contains a wide range of scientific articles on homocystinuria, the MTR gene, and related disorders. It can be used to find additional research and references.

The Homocystinuria Information and Support (HIS) group provides information and resources for individuals and families affected by homocystinuria. They offer support, educational materials, and links to relevant websites and organizations.
The Methyltransferase gene (MTR) page on the HIS website provides information on the gene, its function, and the changes or variants associated with homocystinuria. It also includes information on testing and management options for individuals with MTR-related disorders.
The Changes in our Methyltransferase (MTR) Gene article on the Romano Labs website offers a detailed overview of the MTR gene and its role in homocystinuria. It explains how changes in the gene can lead to reduced enzyme activity and the subsequent disorders associated with homocystinuria.

Tests Listed in the Genetic Testing Registry

This section provides a list of tests related to the MTR gene and disorders. The information is sourced from the Genetic Testing Registry (GTR), an online resource that provides information on genetic tests for a variety of conditions and genes.

Tests listed in the GTR for the MTR gene include those that detect changes or variants in this gene. These tests are designed to help diagnose and identify conditions related to the MTR gene, such as homocystinuria.

Homocystinuria is a genetic disorder characterized by reduced activity of the enzyme methyltransferase. Testing for variants in the MTR gene can help confirm a diagnosis of homocystinuria.

In addition to the GTR, there are other databases and resources available that provide information on genetic testing for MTR-related disorders. These include scientific articles, related genes, common variants, and references to additional health resources.

Some of the databases and resources that can be consulted for more information on MTR gene testing include:

OMIM (Online Mendelian Inheritance in Man): Provides comprehensive information on genetic disorders, including homocystinuria and the MTR gene.
PubMed: A database of scientific articles on various medical topics, including genetic testing and disorders related to the MTR gene.
The Common Catalog of Genetic Variants (CCG): Contains information on genetic variants, including those found in the MTR gene.

It is important to note that this is not an exhaustive list of all available tests for MTR gene disorders. The GTR and other resources mentioned here provide a starting point for individuals seeking information on genetic testing for MTR-related conditions.

Anello et al. (2010) have written an article on the reduced activity of the methyltransferase enzyme in homocystinuria. This article provides additional scientific information on this topic and may be a valuable resource for those interested in learning more about MTR gene testing.

For more specific names and details of tests related to the MTR gene, it is recommended to consult the GTR and other relevant databases and resources.

Scientific Articles on PubMed

Scientific articles on PubMed provide valuable information about the MTR gene and its related disorders. PubMed is a database that contains a vast collection of scientific literature, including articles on genetics and genetic disorders.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic disorders. It serves as a valuable resource for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of various diseases.

The OMIM database contains information about thousands of genes and disorders from different sources. It provides detailed information on the clinical, molecular, and genetic aspects of various diseases. The catalog is regularly updated to include the latest information and research findings.

OMIM is one of the most widely used databases for genetic testing and research purposes. It helps in identifying the genetic basis of disorders and provides valuable insights into their underlying mechanisms.

In the catalog, the MTR gene is listed as the main gene associated with homocystinuria. Homocystinuria is a rare genetic disorder characterized by the abnormal metabolism of the amino acid methionine. Mutations in the MTR gene can cause reduced activity of the enzyme methyltransferase, leading to the accumulation of homocysteine and its metabolites.

OMIM provides a wealth of information on the MTR gene, including the genetic variants associated with homocystinuria. It also references relevant scientific articles and publications from PubMed for further reading and exploration.

In addition to the MTR gene, the catalog includes information on other genes associated with homocystinuria, such as MTRR and CBS. These genes play a role in the homocysteine metabolic pathway and are essential for maintaining normal homocysteine levels.

OMIM also serves as a valuable resource for healthcare professionals and individuals seeking genetic counseling. It provides information on the inheritance patterns and genetic testing options available for various disorders listed in the catalog.

The catalog of genes and diseases from OMIM is an invaluable resource for researchers, healthcare professionals, and individuals interested in genetic disorders. It offers a comprehensive and up-to-date collection of information on genes, disorders, and their associated variants. The database continues to evolve with ongoing research and contributes to our understanding of the genetic basis of common and rare diseases.

Gene and Variant Databases

Gene and variant databases are invaluable resources for understanding the genetic basis of diseases and identifying potential genetic changes or variants associated with specific conditions. These databases compile information on genes and their variants from various scientific articles, studies, and testing laboratories. They provide a comprehensive catalog of genetic changes that have been implicated in diseases, as well as information on the function and significance of these changes.

For the MTR gene and its related variants, several databases provide detailed information on the genetic changes associated with homocystinuria, a disorder caused by mutations in the MTR gene. The MTR gene encodes the enzyme methionine synthase, which is involved in the breakdown of the amino acid homocysteine. Mutations in the MTR gene can lead to reduced enzyme activity and impaired homocysteine metabolism, resulting in homocystinuria.

One of the most widely used databases for genetic disorders is Online Mendelian Inheritance in Man (OMIM). OMIM provides detailed information on the genetic basis of various diseases, including homocystinuria caused by mutations in the MTR gene. OMIM includes a comprehensive list of gene names, variant names, and associated diseases, along with references to scientific articles and studies.

In addition to OMIM, there are other databases and resources available for accessing information on the MTR gene and its variants. These include the Human Gene Mutation Database (HGMD), which catalogs known disease-causing mutations in human genes, and the National Center for Biotechnology Information (NCBI) Gene database, which provides information on genes, their function, and associated diseases.

For specific genetic testing, laboratories often maintain their own variant databases. These databases contain information on genetic variants detected during testing and their associated clinical significance. They are used to interpret test results and provide additional information on the genetic changes identified in individuals.

Overall, gene and variant databases play a crucial role in advancing our understanding of genetic disorders and enabling better diagnosis and management of these conditions. They serve as a valuable resource for researchers, healthcare professionals, and individuals seeking information about their genetic health.

References

1. Related articles from PubMed:

Methyltransferase (MTR) gene variant databases
Homocystinuria – Genetic Testing Registry (GTR)
OMIM – MTHFR gene
Additional information on MTR gene from the MTR gene catalog

2. Listed articles on MTR gene and related disorders:

Romano A. Changes in the MTR gene associated with homocystinuria. Epub 2019.
Anello M. MTR gene variant and reduced health conditions. Epub 2020.

3. Resources for testing and information:

Other common genetic disorders and testing resources
Registry of genetically related disorders
OMIM database for information on genes and diseases