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DLAT gene

The DLAT gene is a component of the dihydrolipoamide dehydrogenase complex, which is an enzyme involved in the process of energy production. Mutations in this gene can cause a deficiency in the dihydrolipoamide dehydrogenase enzyme, leading to various genetic disorders and syndromes.

According to OMIM, the DLAT gene is associated with Leigh syndrome and other conditions related to a dysfunction in pyruvate metabolism. This gene has been extensively studied and researched, with numerous scientific articles and references available on pubmed, a widely used platform for scientific research articles.

Testing for variants or changes in the DLAT gene is available through various genetic testing databases and resources. These tests can help identify mutations and determine the risk of developing genetic disorders or syndromes. Additionally, information on the DLAT gene and related conditions can be found in the OMIM catalog, a comprehensive resource for genetic diseases and information.

Further research on the DLAT gene and its role in energy production and pyruvate metabolism is ongoing, with the goal of understanding the molecular mechanisms underlying these processes and developing potential treatments or interventions. The DLAT gene is an important component in the complex network of genes and enzymes involved in energy production and maintenance of overall health.

Genetic changes in the DLAT gene can lead to various health conditions. Some of these conditions include:

  • Pyruvate dehydrogenase deficiency:
    • This is a rare genetic disorder that affects the body’s ability to convert food into energy.
    • It is caused by mutations in genes that are involved in the pyruvate dehydrogenase complex, which is an important component of the energy production process in the cells.
    • DLAT gene mutations can result in a deficiency of the dihydrolipoamide acetyltransferase (DLAT) component of the pyruvate dehydrogenase complex, leading to the development of this condition.
  • Leigh syndrome:
    • This is a severe neurological disorder that usually starts in infancy or early childhood.
    • It is characterized by the degeneration of the central nervous system, leading to developmental delays, muscle weakness, movement problems, and other symptoms.
    • Some cases of Leigh syndrome have been associated with genetic changes in the DLAT gene.
  • Other related conditions:
    • Genetic changes in the DLAT gene may also be associated with other diseases and syndromes that are not specifically listed in this article.
    • Scientific research and additional testing are necessary to fully understand the relationship between DLAT gene variants and these health conditions.

For more information on health conditions related to genetic changes in the DLAT gene, you can consult the following resources:

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  1. The Online Mendelian Inheritance in Man (OMIM) database: Provides detailed information on genes, genetic disorders, and related references.
  2. The Genetic Testing Registry: Contains information about genetic tests for specific genes and diseases.
  3. The PubMed database: Offers access to scientific articles and research papers on DLAT gene mutations and related topics.

These resources can provide you with additional information and references for further reading on this topic.

Pyruvate dehydrogenase deficiency

Pyruvate dehydrogenase deficiency is a condition caused by mutations in the DLAT gene, which codes for the dihydrolipoamide acetyltransferase (DLAT) component of the pyruvate dehydrogenase complex. This complex is responsible for the conversion of pyruvate into acetyl-CoA, a crucial step in the energy production process.

Individuals with pyruvate dehydrogenase deficiency may experience a range of symptoms, including developmental delay, neurological abnormalities, muscle weakness, and other metabolic disturbances. The severity of the condition can vary widely, with some individuals having mild symptoms and others experiencing severe disability.

Diagnosis of pyruvate dehydrogenase deficiency is typically done through genetic testing, which can identify changes (mutations) in the DLAT gene. This information can be used to confirm a diagnosis and inform treatment decisions.

See also  Limb-girdle muscular dystrophy

For more information about pyruvate dehydrogenase deficiency and related conditions, the following resources may be helpful:

  • OMIM (Online Mendelian Inheritance in Man) database
  • PubMed (a database of scientific articles)
  • Genetic Testing Registry
  • Genetic and Rare Diseases Information Center
  • Health genetics catalog

Additional testing, such as metabolic testing, may be necessary to further evaluate the specific variant of pyruvate dehydrogenase deficiency and guide treatment decisions. It is also important to consult with a medical professional for personalized information and guidance regarding this condition.

Leigh syndrome

Leigh syndrome is a rare genetic disorder that affects the central nervous system. It is characterized by progressive neurological deterioration, developmental delay, and loss of motor skills. The symptoms usually appear in early infancy or childhood.

The exact cause of Leigh syndrome is not fully understood, but it has been associated with mutations in the DLAT gene. DLAT, also known as dihydrolipoamide acetyltransferase, is an essential component of the pyruvate dehydrogenase complex. This complex is responsible for the conversion of pyruvate into acetyl-CoA, an important step in energy production.

To date, mutations in more than 75 different genes have been listed as causing Leigh syndrome, and the DLAT gene is one of them. The mutations in these genes can disrupt the normal functioning of the pyruvate dehydrogenase complex or other related components, leading to a deficiency in energy production and the accumulation of toxic by-products.

Diagnosis of Leigh syndrome often involves genetic testing to identify mutations in the DLAT gene or other genes associated with the syndrome. This can be done through various methods, such as sequencing the genes or using targeted mutation analysis. These tests can provide essential information for the diagnosis and management of the disease.

Scientific databases, such as PubMed, OMIM, and other genetic and disease registries, are valuable resources for gathering information about Leigh syndrome and its genetic components. These databases contain a collection of scientific articles, references, and other relevant information that can aid in understanding the disease and its genetic basis.

In addition to these databases, there are also other health resources available that provide information and support for individuals and families affected by Leigh syndrome. These resources include patient support groups, research organizations, and online communities.

In conclusion, Leigh syndrome is a rare genetic disorder that is caused by mutations in genes such as DLAT, which are involved in the pyruvate dehydrogenase complex. Genetic testing and scientific resources play a crucial role in the diagnosis and understanding of this syndrome.

Other Names for This Gene

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

  • Dihydrolipoamide acetyltransferase
  • Pyruvate dehydrogenase E2 component
  • PDHE2
  • PDC-E2
  • E2 component of pyruvate dehydrogenase complex

These alternative names for the DLAT gene are used in scientific articles, health databases, and resources related to genetic testing, diseases, and conditions. They provide additional information and can help with finding references and related information in catalogs such as OMIM and PubMed.

Additional Information Resources

Here are some additional resources for further information on the DLAT gene and related topics:

  • Genetic Testing: Genetic testing can be done to detect changes or variations in the DLAT gene. It can help in diagnosing pyruvate dehydrogenase deficiency and related conditions. There are several genetic testing laboratories listed in various databases.
  • Registry of Genes and Genetic Diseases: The OMIM (Online Mendelian Inheritance in Man) database provides detailed information on genetic diseases, including pyruvate dehydrogenase deficiency. It includes references to scientific articles, genetic testing resources, and other databases with relevant information.
  • Scientific Articles: PubMed is a comprehensive database of scientific articles. Searching for “DLAT gene” or “pyruvate dehydrogenase deficiency” will yield a wealth of information on the subject.
  • Health and Disease Information: The National Institutes of Health (NIH) and other reputable health websites provide information on pyruvate dehydrogenase deficiency and related conditions. They may offer articles, genetic testing information, and resources for patients and families.
  • Leigh Syndrome: Pyruvate dehydrogenase deficiency is a component of Leigh syndrome, a rare genetic disorder. Additional information on Leigh syndrome can be found in medical databases and resources.
  • Dihydrolipoamide acetyltransferase (DLAT) Catalog: The DLAT catalog lists different variants of the DLAT gene and provides information on the associated enzyme activity. This resource can be helpful in understanding the functional impact of specific gene variants.
  • Energy and Metabolism: Pyruvate dehydrogenase is an important component of energy metabolism. In addition to studying the DLAT gene, exploring resources on energy metabolism and related genes can deepen understanding of this process.
See also  FOXF1 gene

These resources will provide you with a comprehensive understanding of the DLAT gene and its role in pyruvate dehydrogenase deficiency and related conditions.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry is a comprehensive catalog of genetic tests and related information. These tests can be used to determine if an individual has a specific genetic variant or change in the DLAT gene, which is also known as the dihydrolipoamide dehydrogenase gene.

Genetic testing for changes in the DLAT gene can help diagnose or confirm various conditions and diseases, such as pyruvate dehydrogenase complex deficiency, Leigh syndrome, and other energy-related disorders.

The Genetic Testing Registry provides a list of tests that have been submitted by healthcare providers and laboratories. These tests are categorized based on their scientific and common names, as well as the diseases or syndromes they are associated with.

Some of the tests listed in the Genetic Testing Registry for the DLAT gene include:

  • Pyruvate dehydrogenase complex deficiency testing
  • Leigh syndrome genetic testing
  • Dihydrolipoamide dehydrogenase deficiency testing

These tests can help identify specific changes or variants in the DLAT gene that may be causing health-related issues. The Genetic Testing Registry also provides additional resources and information on these tests, including references to articles in PubMed and OMIM.

In addition to the Genetic Testing Registry, there are other databases and resources available that provide information on genetic testing for the DLAT gene and related conditions. These resources can help healthcare professionals and individuals make informed decisions about genetic testing and its implications on health.

Overall, genetic testing for the DLAT gene is an important component in diagnosing and managing various diseases and conditions. The tests listed in the Genetic Testing Registry and other databases can provide valuable information and insights into the genetic basis of these disorders.

Scientific Articles on PubMed

The DLAT gene, also known as dihydrolipoamide acetyltransferase, is a component of the pyruvate dehydrogenase complex. This gene is associated with the pyruvate dehydrogenase deficiency syndrome, which is characterized by a lack of energy due to the impairment of the pyruvate dehydrogenase complex.

Scientific articles related to the DLAT gene and its associated conditions can be found on PubMed. PubMed is a database that provides access to a vast collection of biomedical literature, including genetic research.

Some of the articles listed on PubMed discuss the genetic variant of the DLAT gene and its impact on pyruvate dehydrogenase deficiency syndrome. These articles provide valuable information on the changes in the gene and their effects on the pyruvate dehydrogenase complex.

Additional information on the DLAT gene and related genetic conditions can be found in other databases and resources such as OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry. These sources provide comprehensive catalogs of genetic diseases and offer testing and health resources for individuals and families affected by genetic conditions.

Researchers and healthcare professionals can refer to these scientific articles and databases to obtain up-to-date information on the DLAT gene and its association with pyruvate dehydrogenase deficiency syndrome. These resources are crucial for understanding the genetic basis of this condition and developing effective diagnostic tests and treatments.

References:

  • Gene: DLAT (OMIM)
  • Pyruvate dehydrogenase dihydrolipoamide acetyltransferase deficiency (Genetic Testing Registry)
  • Leigh syndrome (Genetic Testing Registry)

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that catalogues genes and genetic diseases. It provides valuable information on various genetic conditions and serves as a vital resource for scientific research, genetic testing, and healthcare.

One such gene listed in the OMIM database is the DLAT gene, which encodes for the dihydrolipoamide acetyltransferase enzyme. This enzyme is a component of the pyruvate dehydrogenase complex, which plays a crucial role in the energy-related metabolic reaction.

Several diseases and conditions are associated with changes or mutations in the DLAT gene. One example is the Leigh syndrome, a rare genetic disorder characterized by progressive neurological deterioration. This syndrome has been linked to variants of the DLAT gene.

The OMIM catalog provides additional information about the DLAT gene and its associated diseases. It includes scientific articles, references from PubMed, and genetic testing resources. This wealth of information allows researchers, healthcare professionals, and individuals to access the latest updates and findings on DLAT-related diseases.

See also  GNPAT gene

By accessing the OMIM catalog, users can find the names and descriptions of various diseases related to the DLAT gene. The catalog also provides links to other genetic databases and resources for further exploration and research.

Overall, the OMIM catalog serves as a valuable tool for understanding the genetic component of different diseases. It offers a comprehensive catalog of genes and diseases, including those related to energy metabolism, such as the DLAT gene and its associated conditions.

  • Comprehensive catalog of genes and genetic diseases
  • Information on the DLAT gene and its associated diseases
  • Scientific articles and references from PubMed
  • Genetic testing resources and databases
  • Links to additional genetic resources and databases
Key Features of the OMIM Catalog:

Gene and Variant Databases

Gene and variant databases are valuable resources for genetic testing and research on the DLAT gene and its related variants. These databases provide information on genetic changes associated with the pyruvate dehydrogenase complex (PDC) component gene DLAT, as well as other genes and variants related to pyruvate dehydrogenase deficiency (PDHD) and related health conditions.

There are several databases that catalog the genetic variants and related information for the DLAT gene and other genes involved in the PDC reaction. Some of the commonly used databases include:

  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the DLAT gene, its aliases, and related diseases such as Leigh syndrome.
  • PubMed: PubMed is a scientific database that contains a vast collection of articles on genetics and related topics. It can be used to find references and scientific articles related to the DLAT gene and its variants.
  • Genetic Testing Registry: The Genetic Testing Registry (GTR) is a central repository for information about genetic tests. It provides information on available tests and their validity for diagnosing genetic conditions such as PDHD.

In addition to these databases, there are other resources listed in the scientific literature that provide information on genes and variants associated with pyruvate dehydrogenase deficiency and related conditions. These resources can be useful for discovering new genetic changes and understanding their implications in energy metabolism and other health conditions.

Overall, gene and variant databases play a crucial role in advancing our understanding of genetic components like DLAT and their association with various diseases. They provide researchers and clinicians with valuable information for genetic testing, diagnosis, and management of related health conditions.

References

  • The DLAT gene: This gene encodes the dihydrolipoamide acetyltransferase component of the pyruvate dehydrogenase complex. The DLAT gene is related to energy metabolism and is associated with several diseases and syndromes.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides information on genetic disorders and genes, including the DLAT gene. Additional information and articles on DLAT-related diseases can be found here.
  • PubMed: PubMed is a resource for scientific articles and research papers. It contains a wealth of information on the DLAT gene, including studies on its role in different conditions and diseases.
  • Gene Testing and Registry: Gene testing and registry databases can be used to search for specific genetic changes or variants in the DLAT gene. These resources provide information on genetic testing options and registries for individuals with DLAT-related conditions.
  • pyruvate dehydrogenase deficiency: The pyruvate dehydrogenase deficiency is a condition caused by changes in genes associated with the pyruvate dehydrogenase complex, including the DLAT gene. This deficiency affects the body’s ability to convert pyruvate into energy.
  • Leigh syndrome: Leigh syndrome is a rare genetic disorder characterized by changes in genes involved in energy production, including the DLAT gene. This condition leads to progressive neurological problems and can be life-threatening.
  • Health resources: Various health resources provide information on DLAT-related conditions and diseases. These resources can help individuals and families affected by DLAT gene changes to access support and additional information.

It is important to consult reliable sources and genetic experts when seeking information on the DLAT gene and its related conditions. The references above can serve as a starting point for further exploration and learning.

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