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The MT-TE gene is a genetic component that plays a crucial role in the health of cells related to mitochondrial diseases and disorders. It is one of the additional genes listed in the OMIM catalog and the MeSH database on PubMed. This gene is maternally inherited and is responsible for controlling energy production in cells. Mutations in the MT-TE gene can lead to various conditions such as lactic acidosis, muscle weakness, diabetes, and deafness in infants.

The MT-TE gene contains a nucleotide sequence in which a single thymine (T) is substituted by a guanine (G). This variant, also known as a mutation, is written as m.591_591T>G. Molecular testing for changes in this gene can assist in diagnosing the condition and provide crucial information for healthcare professionals. Additionally, testing for mitochondrial DNA mutations involving the MT-TE gene can be conducted through central genetic testing databases and registries.

Further resources and references on the MT-TE gene can be found in scientific articles and genetic databases such as the OMIM catalog and PubMed. These resources provide in-depth information on the gene’s functions, associated conditions, and available testing options. Health professionals should utilize these resources to stay updated with the latest research and advancements in the field of mitochondrial diseases and disorders.

Genetic changes, such as mutations and variants, can lead to various health conditions. These changes can affect the function of genes involved in controlling processes essential for our well-being. Here are some notable health conditions related to genetic changes:

  • Deafness: Genetic changes in the MT-TE gene, a mitochondrial gene responsible for the production of transfer RNA molecules, can result in hearing impairments.
  • Mitochondrial Disorders: Mutations in the MT-TE gene can cause mitochondrial disorders, which are inherited conditions affecting energy release in cells. These disorders can lead to a wide range of symptoms, including muscle weakness, lactic acidosis, and central diabetes.
  • Other Conditions: Genetic changes in the MT-TE gene have also been associated with additional health conditions, including weakness and muscle disorders.

To identify these genetic changes and their implications, various scientific resources and databases can be utilized:

  • The Gene Testing Registry: Provides information on genetic tests available for the MT-TE gene and related genes.
  • OMIM: An online catalog of human genes and genetic disorders, including information on the MT-TE gene and associated conditions.
  • PubMed: A database of scientific articles, where research on the MT-TE gene and related health conditions can be found.

By accessing these resources, individuals can gather valuable information about the genetic changes, their impact on health, and potential testing options.

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Maternally inherited diabetes and deafness

Maternally inherited diabetes and deafness (MIDD) is a condition that affects the energy-producing centers in cells. It is caused by mutations in the MT-TE gene, which is located in the mitochondrial DNA and is inherited maternally. The specific nucleotide changes in the gene lead to changes in the mitochondrial energy production, resulting in various symptoms including diabetes and hearing loss.

MIDD is considered a subtype of mitochondrial diseases, which are a group of genetic disorders involving the mitochondria, the cellular organelles responsible for producing energy. Mitochondrial diseases can affect multiple organs and systems in the body, leading to a wide range of symptoms.

Individuals with MIDD typically develop diabetes in early adulthood, usually before the age of 40. The diabetes in MIDD is often characterized by high blood sugar levels that are difficult to control with medication. In addition to diabetes, affected individuals may also experience hearing loss, usually starting in the second or third decade of life.

Molecular testing is available to confirm a diagnosis of MIDD. The presence of specific mutations in the MT-TE gene can be detected through genetic testing methods. Several databases and resources, such as OMIM and PubMed, provide additional information about the gene, its variants, and their association with MIDD.

See also  ALOXE3 gene

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders, which includes information on the MT-TE gene and its associated conditions. PubMed is a scientific database that provides access to a vast collection of scientific articles on various topics, including mitochondrial diseases.

In addition to genetic testing, other tests and evaluations may be necessary to diagnose and manage MIDD. These may include muscle biopsy, lactic acid testing, and imaging studies to assess the function of the affected organs.

Currently, there is no cure for MIDD, and treatment focuses on managing the symptoms and complications of the condition. This may involve the use of diabetes medications to control blood sugar levels and hearing aids or cochlear implants to manage hearing loss.

In summary, Maternally inherited diabetes and deafness (MIDD) is a genetic condition caused by mutations in the MT-TE gene, which is inherited from the mother. It is characterized by the development of diabetes and hearing loss. Molecular testing and evaluations are available for diagnosis, and treatment aims to manage the symptoms of the condition.

Other disorders

MT-TE gene is also known to be involved in several other molecular and genetic disorders. Thymine is one of the nucleotide bases that make up the DNA molecule. Any changes or mutations in the MT-TE gene can lead to various health conditions and diseases.

One of the conditions associated with the MT-TE gene is mitochondrial myopathy, a muscle weakness disorder caused by defects in the mitochondria, which are responsible for generating energy in cells. This disorder can result in symptoms such as muscle weakness, lactic acidosis, and hearing loss.

Another condition associated with the MT-TE gene is maternally inherited diabetes and deafness (MIDD). This condition is characterized by a combination of diabetes and sensorineural hearing loss. MIDD is caused by a specific variant of the MT-TE gene.

There are also several other genetic disorders and conditions related to the MT-TE gene. These include mitochondrial diseases such as MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes), MERRF (myoclonic epilepsy with ragged red fibers), and Leigh syndrome. These conditions are caused by mutations in various mitochondrial genes, including MT-TE.

Further information about these disorders and related genetic testing can be found in scientific articles, resources such as OMIM (Online Mendelian Inheritance in Man) and other genetic disease databases, and the Mitochondrial Medicine Society’s registry for mitochondrial diseases.

Additional references:

  • Brown GK. Mitochondrial encephalomyopathies. In: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis S, Ballabio A, Gibson K, Mitchell G. eds. The Online Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw-Hill; 2007. http://ommbid.mhmedical.com/content.aspx?bookid=971&Sectionid=62675451. Accessed March 15, 2021.
  • Scaglia F, Wong LJ. Human mitochondrial transfer RNA mutations in disease. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews®. Seattle, WA: University of Washington, Seattle; 2017. https://www.ncbi.nlm.nih.gov/books/NBK279173/. Accessed March 15, 2021.
  • Scientific articles listed on PubMed related to MT-TE gene and associated disorders.

Other Names for This Gene

  • MT-TE gene
  • Genetic variant of mitochondrial encoded transfer RNA glutamic acid
  • mt-TG
  • MTE
  • MTG
  • Gene MTTG
  • MT-TE
  • glutamic acid mitochondrial transfer RNA

Additional Information Resources

Here is a list of additional resources for genetic information on the MT-TE gene:

  • The Registry of Genomic Variation (RVG) – This database provides information on genetic variants and their association with various diseases and conditions.
  • OMIM (Online Mendelian Inheritance in Man) – OMIM is a comprehensive database that provides detailed information on genes, genetic disorders, and inherited conditions.
  • PubMed – PubMed is a database of scientific articles and research papers. It contains a wealth of information on the MT-TE gene and related topics.

In addition to these databases, there are other resources available for testing and information on genetic conditions associated with the MT-TE gene:

  • Testing Labs – Several laboratories offer molecular testing for genetic conditions, including those involving the MT-TE gene.
  • Genetic Counseling – Genetic counselors can provide information and support for individuals and families affected by genetic conditions.
  • Health Organizations – Various health organizations and foundations provide information on mitochondrial diseases and related conditions.

It is important to note that the MT-TE gene is maternally inherited and plays a vital role in energy production in cells. Mutations in this gene can lead to a variety of disorders, including mitochondrial myopathy, lactic acidosis, and stroke-like episodes (MELAS).

The MT-TE gene, also known by other names such as the tRNA gene for glutamic acid, is involved in controlling the production of energy in mitochondria. Changes in this gene can cause mitochondrial disorders and affect various organ systems, leading to symptoms such as muscle weakness, deafness, and diabetes.

See also  APP gene

For more written information on the MT-TE gene and related disorders, you can refer to the references listed in scientific articles and research papers.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry is a central catalog of genetic tests currently available. It provides information on inherited conditions, genetic diseases, and related tests. This registry includes tests that are maternally inherited and those involving mitochondrial genes.

The database contains scientific articles, references, and resources on genetic testing, as well as additional information on the genes and conditions involved. It catalogs tests for conditions such as lactic acidosis, muscle weakness, deafness, and diabetes-related mutations.

The Genetic Testing Registry lists tests related to the MT-TE gene, which encodes a transfer RNA molecule involved in controlling the energy production in mitochondria. This gene is also known as the thymine nucleotide variant of the mitochondrial gene.

The registry provides information on the changes or mutations in the MT-TE gene, their molecular impact, and their association with specific diseases. It references articles from PubMed, OMIM, and other scientific databases to support the information provided.

Genetic testing for MT-TE gene mutations can help in diagnosing and managing conditions related to mitochondrial dysfunction. It can provide valuable information for healthcare professionals and individuals seeking to understand their genetic predisposition to certain diseases.

In conclusion, the Genetic Testing Registry is a comprehensive resource for individuals and healthcare providers interested in genetic testing for mitochondrial gene conditions. It serves as a central catalog of tests, references, and scientific articles, providing valuable information on the MT-TE gene and its role in various disorders.

Scientific Articles on PubMed

PubMed is a well-known database for scientific articles related to various medical conditions and disorders. It provides a comprehensive resource for researchers and health professionals to access the latest information on a wide range of topics. In the context of the “MT-TE gene,” PubMed can be a valuable tool for finding articles and studies related to this gene and its associated conditions.

MT-TE Gene and Associated Conditions

The MT-TE gene, also known as mitochondrial tRNA Glu (MT-TE) gene, is an important gene involved in controlling the production and release of energy in cells. Mutations in this gene can lead to various mitochondrial disorders, including muscle weakness, deafness, diabetes, and other related conditions.

PubMed Databases and Resources

PubMed offers access to a wide range of databases that provide valuable information on the MT-TE gene and related topics. These databases include:

  • OMIM (Online Mendelian Inheritance in Man): OMIM is a catalog of human genes and genetic disorders, including those associated with the MT-TE gene. It provides detailed information on the genetic basis of diseases, including references to relevant scientific articles.
  • PubMed Central: PubMed Central is an archive of free, full-text articles in the field of biomedical and life sciences. It includes a vast collection of scientific articles on various topics related to the MT-TE gene and its associated conditions.

Testing and Molecular Changes

Testing for mutations in the MT-TE gene can help identify individuals at risk of developing mitochondrial disorders. This testing typically involves analyzing the nucleotide changes in the gene and identifying specific mutations. Understanding the molecular changes associated with these mutations is essential for diagnosing and managing these conditions.

Registry and Resources

The mtDNA Variation Database is a useful resource for accessing information on different variants and mutations in the MT-TE gene. This database provides additional information on the frequency and clinical significance of specific variants, as well as references to relevant studies and articles.

Conclusion

PubMed is a valuable resource for accessing scientific articles and studies related to the MT-TE gene and associated conditions. It offers a wealth of information on the genetic basis, molecular changes, testing methods, and management approaches for mitochondrial disorders. Researchers and health professionals can utilize PubMed to stay updated with the latest advancements in this field and enhance their understanding of these complex conditions.

Catalog of Genes and Diseases from OMIM

The MT-TE gene is a mitochondrial gene involved in controlling energy production in cells. Mutations in this gene can lead to a variety of inherited conditions, including lactic acidosis, deafness, muscle weakness, and diabetes. Testing for variants in the MT-TE gene can help diagnose these conditions and provide valuable information for managing the health of affected individuals.

The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genes and diseases. This catalog lists the genetic variants associated with various diseases and provides links to scientific articles, databases, and other resources for additional information.

See also  Lesch-Nyhan syndrome

OMIM provides detailed information on each gene, including its nucleotide sequence, related diseases, and the changes in the gene that are associated with these conditions. The catalog also includes the names of other genes involved in the same or related disorders, making it a valuable resource for researchers and healthcare professionals.

The catalog is regularly updated with new information and releases. It provides references to articles and studies published in scientific journals, allowing users to access the latest research on genetic conditions and their underlying molecular mechanisms.

For individuals seeking information on specific diseases or conditions, OMIM offers a search feature that allows users to look up diseases by name or by associated genes. This feature helps researchers, clinicians, and individuals interested in genetic health to easily find relevant information and references.

In addition to OMIM, there are other databases and registries that provide genetic testing resources and information on inherited disorders. These include the Genetic Testing Registry (GTR) and PubMed, which is a database of scientific literature.

In summary, the catalog of genes and diseases from OMIM is a comprehensive resource for information on genetic conditions involving the MT-TE gene and other genes controlling energy production in mitochondria. It provides valuable information for diagnostic testing, understanding the molecular basis of these disorders, and managing the health of affected individuals.

Gene and Variant Databases

Gene and variant databases provide valuable information on genetic mutations and their implications on various diseases and conditions. These databases serve as important resources for researchers, healthcare professionals, and individuals seeking to understand the genetic basis of certain disorders and the associated variants.

These databases contain extensive collections of genetic variants, including nucleotide changes, insertions, deletions, and more. They often include information on genes, their functions, and the diseases or conditions they are known to be associated with. Researchers can use these databases to find references to scientific articles, related tests, and other relevant information.

For the MT-TE gene specifically, there are several databases available that contain information on its variants and associated disorders. Some of the notable databases include:

  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database for genes and genetic disorders. It provides detailed information on the MT-TE gene, its mutations, and the diseases associated with these mutations.
  • PubMed: PubMed is a vast database of scientific articles. Researchers can find articles related to the MT-TE gene, its variants, and their implications in different diseases and conditions.
  • GeneTests: GeneTests is a genetic testing registry that provides information on genetic tests for various conditions. It includes information on genetic tests available for the MT-TE gene mutations.
  • mtDNA Registry: The mtDNA Registry is a database specifically dedicated to mitochondrial DNA variants and associated disorders. Researchers and healthcare professionals can find information on the MT-TE gene mutations and their implications in mitochondrial diseases.

These databases are regularly updated with new information and research findings. They serve as valuable resources for understanding the genetic basis of diseases and conditions and for facilitating further research in this field. By controlling the release of information related to gene variants, databases play a crucial role in ensuring the accuracy and reliability of the information available.

Overall, gene and variant databases provide a wealth of information on genetic mutations, genes involved in various conditions, and the associated diseases. Researchers, healthcare professionals, and individuals seeking to learn more about specific genetic conditions can benefit greatly from these resources.

References

1. OMIM – Online Mendelian Inheritance in Man. A catalog of human genes and genetic disorders. Available from: https://www.omim.org/

2. PubMed – A resource for scientific articles on health and medical topics. Available from: https://pubmed.ncbi.nlm.nih.gov/

3. GeneTests – A diagnostic genetic testing information resource. Available from: https://www.ncbi.nlm.nih.gov/gtr/

4. MITOMAP – A database of human mitochondrial DNA variation. Available from: https://www.mitomap.org/

5. NHGRI – National Human Genome Research Institute. Information on genetic testing and related topics. Available from: https://www.genome.gov/

6. MitoRegistry – A registry of mitochondrial disease patients worldwide. Available from: https://mitoregistry.org/

7. Genetic Home Reference – A guide to understanding genetic conditions. Available from: https://ghr.nlm.nih.gov/

8. MitoMAP – A catalog of mitochondrial DNA mutations and associated diseases. Available from: https://www.mitomap.org/foswiki/bin/view/MITOMAP/WebHome

9. GeneReviews – A resource for information on genetic conditions and genes. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1116/

10. Mitochondrial Medicine Society – Written for health care professionals, this society provides information on mitochondrial disorders. Available from: https://www.mitosoc.org/

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