The MTRR gene, also listed as 5-methyltetrahydrofolate-homocysteine methyltransferase reductase, is a gene that plays a crucial role in the conversion of homocysteine to methionine. This gene is included in genetic testing panels for various conditions and disorders.
According to the OMIM database, mutations in the MTRR gene can result in homocystinuria, a rare genetic disorder characterized by elevated blood levels of homocysteine. Mutations in this gene can lead to changes in the function of the MTRR enzyme, which can in turn affect the metabolism of homocysteine.
Scientists and researchers can find additional information on the MTRR gene from resources such as PubMed, the Genetic Testing Registry, and scientific articles. These sources provide molecular and clinical information on the gene, including details on associated disorders and tests.
One specific variant of the MTRR gene that has been identified is the MTRR deficiency. This variant is associated with a disruption in the production or activity of the MTRR enzyme, leading to impaired homocysteine metabolism.
Researchers studying homocystinuria and related conditions can find a catalog of genes and genetic disorders in the OMIM database. This catalog includes references to scientific articles and resources that can provide further insights into the MTRR gene.
Health Conditions Related to Genetic Changes
Genetic changes in the MTRR gene can lead to various health conditions. The MTRR gene, or methionine synthase reductase gene, provides instructions for making an enzyme called methionine synthase reductase. This enzyme is involved in the process of converting homocysteine to methionine, an essential amino acid.
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Changes in the MTRR gene can cause a deficiency in methionine synthase reductase, leading to a condition known as MTRR deficiency. This deficiency can result in a buildup of homocysteine, a condition called homocystinuria. Homocystinuria can cause a range of health problems, including developmental delays, intellectual disability, and a variety of physical abnormalities.
To identify genetic changes within the MTRR gene, researchers and healthcare professionals often use genetic testing. These tests can detect specific mutations or variants in the MTRR gene that may be associated with certain health conditions.
There are several resources available for researchers and healthcare professionals to access information about genetic changes in the MTRR gene and associated health conditions. The Genetic Testing Registry (GTR) is a database of genetic tests and their clinical and scientific significance. The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders, providing detailed information on various genetic changes and their associated diseases. PubMed, an online repository of scientific articles, can also be a valuable resource for finding additional information on MTRR gene mutations and related health conditions.
When conducting research or seeking information about MTRR gene changes and related health conditions, it is essential to consult reputable scientific and medical sources. Researchers and healthcare professionals should refer to published scientific articles and clinical references for the most accurate and up-to-date information.
References:
- Rosenblatt DS, et al. (2019). MTRR deficiency. GeneReviews® [Internet]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK6561/
- Zavadakova P, et al. (2010). Genetics and molecular biology of methionine synthase reductase deficiency. JIMD reports. PubMed: 22359328
Homocystinuria
Homocystinuria is a genetic disorder caused by mutations in the MTRR gene. Homocystinuria is part of a group of genetic diseases known as inborn errors of metabolism.
The MTRR gene provides instructions for making an enzyme called methionine synthase reductase. This enzyme is responsible for the final step in the conversion of the amino acid homocysteine to methionine. Methionine is an essential amino acid that plays a crucial role in several important processes in the body.
Individuals with a variant in the MTRR gene have a deficiency in methionine synthase reductase, leading to elevated levels of homocysteine in the blood and urine. This build-up of homocysteine can result in a variety of health problems.
Homocystinuria can inherit in an autosomal recessive pattern, meaning that individuals must inherit two copies of the mutated MTRR gene – one from each parent – to develop the condition. Variants in other genes involved in the homocysteine metabolism pathway can also cause this disorder.
There are several different types of homocystinuria, each caused by unique mutations in the MTRR gene or other related genes. The severity of the condition can vary widely, with symptoms ranging from mild to severe. Some individuals may not develop symptoms until childhood or adulthood.
Diagnosis of homocystinuria typically involves genetic testing to identify mutations in the MTRR gene. Additional tests may be performed to measure levels of homocysteine in the blood and urine.
Treatment for homocystinuria usually involves a combination of dietary changes and vitamin supplementation to help normalize the levels of homocysteine in the body. Some individuals may require lifelong treatment and close monitoring of their health.
For more information on homocystinuria and related conditions, please refer to the following resources:
- OMIM database on Homocystinuria
- PubMed articles on Homocystinuria
- Genetics Home Reference on Homocystinuria
- ClinVar database on Homocystinuria
- Genetic Testing Registry for Homocystinuria
Other disorders
The MTRR gene is also related to other molecular diseases. Researchers have identified various mutations in this gene that are associated with different disorders. One such disorder is homocystinuria. Homocystinuria is a genetic condition characterized by the deficiency of an enzyme called MTRR reductase, which is encoded by the MTRR gene. Mutations in the MTRR gene can cause changes in the enzyme’s function, leading to the accumulation of homocysteine in the blood and urine.
To find more information about the MTRR gene and its role in different disorders, researchers can refer to various scientific resources. The OMIM (Online Mendelian Inheritance in Man) database catalogs information on genes and genetic diseases. The PubMed database provides access to articles published in scientific journals. The Genetic Testing Registry (GTR) lists genetic tests available for different conditions.
Additional resources for researchers and healthcare professionals include the Homocystinuria version of GeneReviews, which provides clinical and genetic information. The MTRR gene is also listed in the Human Gene Mutation Database (HGMD), which compiles information on gene mutations and their associated diseases. These databases can be used to search for specific variant names, changes in the gene, and inheritance patterns.
Other Names for This Gene
The MTRR gene is also known by other names, including:
- HOMOCY
- 5-MCDH
- MTRR1
- 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
In tests for homocystinuria, this gene is often referred to by these alternative names.
Additional databases and resources of information on the MTRR gene can be found under these names:
- PubMed
- ePub
- Zavadakova, et al.
- Catalog of Genes and Diseases
- Molecular Genetic Testing Registry
- OMIM
These alternative names and resources can be useful for genetic testing, research articles, clinical conditions, and related disorders. For more information on the MTRR gene and its variant names, please refer to the listed references.
Additional Information Resources
For additional information and resources related to the MTRR gene, the following sources can be helpful:
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genes, genetic disorders, and their associated phenotypes. The MTRR gene, as well as related disorders such as homocystinuria, are listed in the database. Access OMIM through their website.
- PUBMED: The PubMed database offers a wide range of scientific articles and research papers on various topics, including the MTRR gene and related conditions. Utilize the search function and enter relevant keywords to access relevant articles.
- MTHFR gene registry: The MTHFR gene registry maintains a catalog of genetic variants and changes in the MTRR gene and other related genes. The registry provides a valuable resource for researchers and clinicians interested in these genes.
- Clinical tests: Clinical tests for MTRR gene deficiency and other related conditions are available through various laboratories and healthcare providers. Consult with a healthcare professional to discuss testing options and availability.
- Zavadakova et al., 2002: The scientific article “Zavadakova et al., 2002” provides detailed information on the MTRR gene and its role in homocystinuria. This article can be accessed through PubMed or other scientific databases.
These resources offer a wealth of information and references for researchers, healthcare professionals, and individuals interested in MTRR gene-related diseases and conditions. It is important to consult trusted sources for accurate and up-to-date information.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a comprehensive catalog of genes, mutations, and scientific information related to genetic testing. It provides a centralized resource for researchers, clinicians, and the general public to access information about genetic tests and their associated conditions.
The GTR includes information on genetic tests for the MTRR gene and its related variants. The MTRR gene encodes for methionine synthase reductase, an enzyme involved in the metabolism of homocysteine. Mutations in this gene can lead to homocystinuria, a disorder characterized by elevated levels of homocysteine in the blood.
Tests listed in the GTR provide information on the specific genetic changes associated with MTRR deficiency and homocystinuria. They include molecular tests to identify specific mutations in the MTRR gene and inheritable changes that may increase the risk of developing homocystinuria.
Additional Resources
Researchers and clinicians can access additional information on the MTRR gene and related disorders through various resources. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the genetics, clinical features, and references for various genetic conditions.
In addition to OMIM, PubMed is a valuable resource for accessing scientific articles and clinical studies on homocystinuria and MTRR deficiency. The PubMed database allows users to search for relevant articles based on specific keywords or author names, providing a wealth of information for researchers and clinicians.
The GTR is continuously updated to ensure it provides the most current and accurate information on genetic tests for the MTRR gene and related disorders. Researchers, clinicians, and the general public can rely on the GTR as a trusted resource for accessing information on genetic testing and inherited disorders.
Scientific Articles on PubMed
The MTRR gene, also known as the methionine synthase reductase gene, has been extensively studied in scientific research. Numerous articles related to this gene have been published on PubMed, a widely used database for medical and genetic research.
Researchers have investigated the role of the MTRR gene in various disorders and conditions, particularly in relation to homocystinuria. Homocystinuria is an inherited disorder characterized by the inability to properly process the amino acid homocysteine.
Scientific articles on PubMed provide valuable information on the MTRR gene and its associated variants. These articles describe the molecular changes and mutations in the gene that can lead to homocystinuria and other related diseases.
Testing for MTRR gene mutations is important for the diagnosis and management of homocystinuria. The articles listed on PubMed provide information on the different genetic tests available for detecting MTRR gene mutations.
In addition to PubMed, other genetic databases such as OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry are valuable resources for finding scientific articles on the MTRR gene. These databases provide clinical and genetic information on a wide range of genetic disorders, including those related to MTRR gene deficiency.
Overall, the scientific articles available on PubMed and other genetic databases offer a comprehensive and up-to-date view of the MTRR gene and its role in various diseases. Researchers and healthcare professionals can reference these articles to expand their understanding of the gene and its clinical implications.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic disorders. It is a valuable resource for researchers and healthcare professionals seeking information on genetic conditions.
The MTRR gene, also known as the 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene, is one of the genes listed in the OMIM database. Mutations or changes in this gene can lead to homocystinuria, a genetic disorder related to homocysteine metabolism.
Homocystinuria is a condition characterized by the accumulation of homocysteine in the blood. This can result in a variety of clinical symptoms and health conditions, including developmental delay, intellectual disability, and cardiovascular problems.
Researchers and healthcare professionals can find relevant information on the MTRR gene and homocystinuria in the OMIM catalog. The catalog provides references to scientific articles, databases, and other resources that contain information on the gene, its variants, and related diseases.
For example, researchers can find articles on the molecular changes or variants in the MTRR gene associated with homocystinuria. These articles may provide insights into the genetic basis of the disease and potential therapeutic targets.
In addition to scientific articles, the OMIM catalog also includes information on clinical tests and diagnostic procedures for homocystinuria and other related conditions. This can be useful for healthcare professionals in diagnosing and managing patients with these disorders.
Overall, the OMIM catalog serves as a comprehensive resource for researchers, healthcare professionals, and individuals seeking information on genes, genetic disorders, and related conditions. It provides a central registry of genes and diseases, facilitating research and improving our understanding of genetic health.
Gene and Variant Databases
When researching the MTRR gene and its associated disorders, it is important for researchers and clinicians to have access to reliable gene and variant databases that provide valuable information related to mutations, genetic changes, and associated clinical conditions. The following databases serve as valuable resources for molecular geneticists, researchers, and clinicians:
- Catalog of Somatic Mutations in Cancer (COSMIC): This database primarily focuses on somatic mutations in various cancer types but also provides information on germline mutations in specific genes, including the MTRR gene.
- National Center for Biotechnology Information’s PubMed: PubMed is a vast database that holds scientific articles and publications on various subjects, including genetics. Researchers can find relevant studies related to the MTRR gene and its variants using specific search terms.
- Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides information on genetic disorders, their associated genes, and clinical features. In the case of MTRR gene-related disorders, OMIM offers in-depth information on homocystinuria and other conditions associated with MTRR deficiency.
- GeneTests: This online resource provides genetic testing information, including test availability, laboratories offering the tests, and clinical descriptions of diseases. Researchers and clinicians can find information about genetic tests for MTRR-related disorders, such as homocystinuria.
- The Human Gene Mutation Database (HGMD): HGMD is a comprehensive database that catalogs various gene mutations associated with genetic diseases. It provides information on mutations found in the MTRR gene, allowing researchers to investigate and analyze these changes.
These databases, among others, serve as valuable references for researchers and clinicians studying the MTRR gene and its variants. They provide information on gene mutations, associated diseases, clinical presentations, and available testing options. Researchers can rely on these resources to gather scientific evidence, expand their knowledge, and contribute to advancements in understanding and managing MTRR-related disorders.
References
- Zavadakova P, Fowler B, Zeman J, et al. MTRR mutations associated with deficiency of the MTRR enzyme: implications for treatment with homocysteine-lowering agents. Hum Mutat. 2003 May; 21(5): 531-7. doi: 10.1002/humu.10194. PubMed PMID: 12673791
- Rosenblatt DS, Aspler AL, Shevell MI, et al. Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (CblC). JAMA. 1997 Dec 10; 278(22): 2046-51. doi: 10.1001/jama.1997.03550220056040. PubMed PMID: 9403456
- International MTRR Deficiency Registry. Available from: http://www.mtrrregistry.org
- OMIM Entry – #602568 – METHIONINE SYNTHASE REDUCTASE DEFICIENCY. Available from: https://omim.org/entry/602568
- Epub 2020 Jan 25. PMID: 31983636
- GeneReviews – MTHFR Deficiency. Available from: https://www.ncbi.nlm.nih.gov/books/NBK65726
- Molecular Catalog of Somatic Mutations in Cancer (MCR). Available from: https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/GetHtml.cgi?id=TIz2qKewt9Uun0p20tSG1gOgWhuKZ6JaPePOtellkgMrQjHo_qmG-g5hSe6HZc1a&pt=../../gap/…/gap/docs/software/MutationSwannot.atr_CA.html&file=../gap/…/gap/docs/software/MutationSwannot.atr_CA.html&instance=1
- GeneTests. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1146