PDHB gene – Austra Health

The PDHB gene is a gene that codes for the E1beta subunit of the pyruvate dehydrogenase complex. This complex is responsible for the conversion of pyruvate into acetyl-CoA, which is used in the citric acid cycle to produce energy. Mutations in the PDHB gene can lead to a genetic deficiency of the pyruvate dehydrogenase complex, resulting in a range of related conditions and diseases.

OMIM, Genet and PubMed are databases that contain information about genetic conditions. They provide resources such as scientific articles, references, and testing information for genes and variants associated with diseases. The PDHB gene is listed in these databases for the changes and variants that have been identified in patients with pyruvate dehydrogenase deficiency and related conditions.

In addition to the PDHB gene, there are other genes involved in the pyruvate dehydrogenase complex, including PDHA1, PDHX, and DLD. Mutations in any of these genes can cause deficiencies in the complex and lead to a variety of health problems. Leigh syndrome is one of the conditions associated with mutations in the PDHB gene and other genes of the complex.

Testing for mutations in the PDHB gene and other genes of the pyruvate dehydrogenase complex can be done through genetic testing. This testing can help in diagnosing and understanding the underlying causes of diseases and conditions related to pyruvate dehydrogenase deficiency. The results of genetic testing can provide important information for medical professionals and patients in making treatment decisions and managing the condition.

Genes, with various names, registry numbers, and databases, are important components of the scientific and medical communities. They play a crucial role in understanding the function and reactions in the body, as well as in researching and developing treatments for genetic diseases.

Health Conditions Related to Genetic Changes

Genetic changes in the PDHB gene, which encodes the E1beta component of the pyruvate dehydrogenase (PDH) complex, can lead to various health conditions. The PDH complex is responsible for a crucial reaction in the conversion of pyruvate to acetyl-CoA, which is an essential component in the production of energy in cells.

One health condition related to genetic changes in the PDHB gene is Leigh syndrome, also known as subacute necrotizing encephalopathy. This syndrome is characterized by progressive neurological deterioration, which includes developmental delay, loss of motor skills, and other neurological problems. The deficiency in the E1beta component of the PDH complex caused by genetic changes in the PDHB gene is one of the causes of Leigh syndrome.

In addition to Leigh syndrome, genetic changes in the PDHB gene can also cause other diseases and syndromes. These conditions may have different names and clinical presentations, depending on the specific variant in the PDHB gene. Some of these conditions may be listed in databases and registries for genetic disorders, such as OMIM (Online Mendelian Inheritance in Man) and GeneReviews.

Genetic testing for changes in the PDHB gene can provide valuable information for the diagnosis and management of health conditions related to such changes. These tests can detect genetic variants in the PDHB gene and may involve sequencing the gene or specific regions of it. Testing can be performed in specialized laboratories or genetic testing centers.

Scientific articles, references, and additional resources on the PDHB gene and related health conditions can be found in scientific databases such as PubMed. These resources provide information on the genetic changes, clinical features, diagnostic methods, and management of diseases caused by PDHB gene variants.

In summary, genetic changes in the PDHB gene can lead to various health conditions, including Leigh syndrome and other diseases. The PDHB gene encodes the E1beta component of the PDH complex, which plays a crucial role in energy production. Genetic testing and scientific resources can provide valuable information for the diagnosis and management of these conditions.

Pyruvate dehydrogenase deficiency

Pyruvate dehydrogenase deficiency is a genetic disorder caused by changes in the PDHB gene. The PDHB gene encodes the E1beta polypeptide, which is a component of the pyruvate dehydrogenase complex.

The pyruvate dehydrogenase complex is responsible for a crucial reaction in metabolism, converting pyruvate into acetyl-CoA, which is a key molecule in energy production.

Deficiency in pyruvate dehydrogenase function can lead to a variety of diseases and syndromes, including Leigh syndrome. Pyruvate dehydrogenase deficiency may cause developmental delay, neurological problems, and other symptoms.

Testing for pyruvate dehydrogenase deficiency can be done through genetic testing, which looks for changes in the PDHB gene. Additional tests can measure the activity of the pyruvate dehydrogenase complex or detect its absence.

References and resources for information on pyruvate dehydrogenase deficiency:

OMIM: a catalog of human genes and genetic disorders, including information on the PDHB gene and related diseases. Available at https://www.omim.org/.
PubMed: a database of scientific articles, including studies and reviews on pyruvate dehydrogenase deficiency. Available at https://pubmed.ncbi.nlm.nih.gov/.
GENET: a genetic testing resource that provides information on genetic tests for pyruvate dehydrogenase deficiency. Available at https://www.genetests.org/.
PDH Registry: a registry for individuals with pyruvate dehydrogenase deficiency. Provides information on the disease, genetic testing, and clinics offering specialized care. Available at https://www.pdhregistry.org/.

Other names for pyruvate dehydrogenase deficiency include:

Pyruvate decarboxylase complex deficiency
Pyruvate dehydrogenase E1-beta deficiency
PDH deficiency

Leigh syndrome

Leigh syndrome is a genetic disorder that affects the central nervous system. It is often characterized by progressive loss of mental and movement abilities. Leigh syndrome is caused by changes in the PDHB gene, which provides instructions for making a component of the pyruvate dehydrogenase complex.

The pyruvate dehydrogenase complex plays a critical role in energy production. It converts a molecule called pyruvate from carbohydrates into usable energy for the body. PDHB gene changes result in a deficiency of this complex, which affects the function of various tissues and organs, particularly those of the central nervous system.

Leigh syndrome is listed in the OMIM catalog of genetic diseases under the name ‘Leigh syndrome, due to COXPD9’ and ‘Leigh syndrome, PDHB-related.’ Additionally, it is classified as ‘PDHB variant’ in the Human Gene Mutation Database and ‘PDHB’ in the Online Mendelian Inheritance in Man (OMIM) database.

Scientific articles and other resources related to Leigh syndrome can be found in various databases, including PubMed, OMIM, and Genet. This information can provide additional insights into the condition, its cause, testing, and treatment options.

For genetic testing and diagnosis of Leigh syndrome, healthcare professionals may refer to the PDHB gene and related gene variants. Testing may involve analyzing the specific changes in the PDHB gene to confirm a diagnosis.

Other Names for This Gene

This gene is also known by several other names:

Brown-Vialetto-Van Laere syndrome 2
Dehydrogenase E1beta component, mitochondrial
PDH E1-beta
PDH beta
PDHBD
DDPC1/-related Leigh syndrome
PDHB gene
Pyruvate dehydrogenase E1-beta polypeptide gene

These alternative names reflect the protein function, related diseases, and genetic variations associated with this gene.

The PDHB gene encodes the E1-beta subunit of pyruvate dehydrogenase, a key component of the pyruvate dehydrogenase complex. Changes in this gene can cause pyruvate dehydrogenase deficiency, a rare genetic disease characterized by impaired pyruvate metabolism and energy production.

Databases and registries, such as OMIM and GeneReviews, provide additional information on the PDHB gene and related conditions. Scientific articles and references listed in PubMed and other scientific databases also contribute to the understanding of the genetic and functional aspects of this gene.

Genetic testing and variant analysis play crucial roles in diagnosing pyruvate dehydrogenase deficiency and related conditions. Health resources and testing laboratories offer comprehensive genetic testing services to detect mutations in the PDHB gene.

In conclusion, the PDHB gene, known by various names, contributes to pyruvate metabolism and is associated with conditions like pyruvate dehydrogenase deficiency and the Brown-Vialetto-Van Laere syndrome 2. Additional research and scientific studies continue to expand our knowledge of the genetic and functional significance of this gene.

Additional Information Resources

In addition to the information provided above, there are many other resources available to learn more about the PDHB gene and related conditions. These resources include scientific articles, genetic databases, and health registries. Some of the key resources are listed below:

OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides information on genetic diseases and related genes. The entry for the PDHB gene provides detailed information on the gene’s function, variants, and associated diseases. OMIM also includes links to relevant scientific articles and other resources.
PubMed: PubMed is a database of scientific articles in the field of biology and medicine. By searching for “PDHB gene” or related terms, you can find a wealth of scientific articles that provide more in-depth information on the gene, its function, and its role in various diseases.
Genetic Testing and Registry: Various genetic testing laboratories and registries offer testing and information on PDHB-related conditions. These resources can provide diagnostic testing, genetic counseling, and support for individuals and families affected by PDHB gene changes or related diseases.

It is important to note that this is not an exhaustive list of resources, and there may be other databases, organizations, or scientific publications that provide additional information on the PDHB gene and related conditions. However, the resources listed above should serve as a good starting point for further exploration.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry provides a comprehensive list of tests related to the PDHB gene. These tests are used to diagnose various conditions and diseases associated with mutations or changes in the PDHB gene.

PDHB, also known as pyruvate dehydrogenase E1 component subunit beta, is a protein coding gene. It is involved in the pyruvate dehydrogenase (PDH) complex, which is responsible for the conversion of pyruvate into acetyl-CoA, an important step in energy production.

Leigh Syndrome: One of the conditions associated with PDHB gene mutations is Leigh syndrome. This inherited neurological disorder affects the central nervous system and primarily affects infants and young children.

OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides detailed information about genetic disorders. It contains information on clinical features, genetics, and molecular biology of various conditions, including those related to PDHB gene mutations.

Scientific Articles: Scientific articles published in peer-reviewed journals provide valuable information about the role of PDHB gene mutations in various diseases. These articles contribute to the understanding of the genetic basis of these conditions and potential treatment options.

Genetic Testing: Genetic testing can identify changes or variants in the PDHB gene that may be associated with certain diseases or conditions. This testing can help diagnose specific disorders or determine an individual’s risk for developing certain health conditions.

Catalog of Genetic Tests: The National Institutes of Health provides a catalog of genetic tests available for various conditions, including those related to the PDHB gene. This resource provides information on the specific tests available, as well as laboratories that offer these tests.

PubMed: PubMed is a database of scientific literature that provides access to millions of articles. It includes research on the PDHB gene, pyruvate dehydrogenase deficiency, and related diseases. Researchers and healthcare professionals can use this resource to access the latest research and findings in the field.

Additional Genes: PDHB gene mutations can cause pyruvate dehydrogenase deficiency, but there are also other genes involved in this condition. The Genetic Testing Registry lists additional genes that may be associated with pyruvate dehydrogenase deficiency.

Resources for Variant Interpretation: Variant interpretation is an important step in genetic testing. Several resources are available to assist in the interpretation of PDHB gene variants, including databases and expert panels.

References and Citations: Posted articles, studies, and research papers provide references and citations to other relevant resources. These references allow readers to explore further and gain a deeper understanding of the topic.

Genetic Testing Registry: The Genetic Testing Registry is a central online resource that provides information about genetic tests. It includes information about the PDHB gene, associated conditions, and available tests. Healthcare providers and individuals can access this registry to find reliable and up-to-date information on genetic testing options.

In conclusion, the PDHB gene plays a crucial role in the pyruvate dehydrogenase complex and mutations in this gene can lead to various diseases and conditions. The Genetic Testing Registry provides valuable information on tests, conditions, and resources related to the PDHB gene. Researchers, healthcare professionals, and individuals can refer to these resources for further understanding and management of relevant disorders.

Scientific Articles on PubMed

PubMed is a widely used database for accessing scientific articles in the field of healthcare and related disciplines. It contains a wealth of information on various genetic conditions and diseases, including those related to the PDHB gene.

The PDHB gene encodes the E1beta subunit of the pyruvate dehydrogenase complex (PDH), which is a key component in the pyruvate dehydrogenase reaction. Changes in this gene can cause a range of conditions, including the Leigh syndrome and other pyruvate dehydrogenase-related diseases.

Scientific articles and references related to the PDHB gene can be found on PubMed, which is a valuable resource for researchers, healthcare professionals, and individuals interested in the field of genetics and genomics.

Here are some additional resources available on PubMed:

The OMIM database: OMIM (Online Mendelian Inheritance in Man) provides comprehensive information on genetic diseases and genes. It includes detailed descriptions, gene names, variant information, and citations to relevant scientific articles.
The Gene Testing Registry: This registry provides information about genetic tests for specific genes, including PDHB. It offers details about the purpose of the tests, test availability, and laboratories offering the testing.
PubMed Central: PubMed Central is a free full-text archive of scientific articles in the field of life sciences and biomedical research. It includes a wide range of articles relevant to the PDHB gene and related diseases.

These resources can provide researchers and healthcare professionals with valuable information on the function and variant changes in the PDHB gene, as well as information on the diseases and genetic syndromes associated with it.

For more scientific articles and information on the PDHB gene, it is recommended to search PubMed and other relevant databases.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genes and diseases. It is a valuable resource for researchers, clinicians, and patients seeking information on genetic conditions.

One gene listed in the OMIM database is the pyruvate dehydrogenase E1 beta subunit (PDHB) gene. This gene encodes a component of the pyruvate dehydrogenase complex, which is responsible for a key reaction in the metabolism of pyruvate.

Changes or variants in the PDHB gene can cause pyruvate dehydrogenase deficiency, a rare genetic condition. This deficiency can lead to a range of health conditions and related syndromes, such as Leigh syndrome.

In the OMIM database, the PDHB gene is listed under the gene name “PDHB” and the OMIM entry number 179060. The entry provides detailed information on the gene, including its function, associated diseases, and scientific articles related to the gene.

For genetic testing, the OMIM catalog can serve as a useful resource for identifying genes associated with specific diseases. The catalog provides a comprehensive list of genes and their associated diseases, making it easier for researchers and clinicians to select appropriate genetic tests.

In addition to the OMIM database, other resources such as PubMed, gene databases, and registry databases can also provide valuable information on the PDHB gene and its associated diseases. These resources can be used to further explore the functions and roles of the PDHB gene in various health conditions.

Citation and Resources:

OMIM: An Online Catalog of Human Genes and Genetic Disorders. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD). World Wide Web URL: https://omim.org.
PubMed: A database of scientific articles. World Wide Web URL: https://pubmed.ncbi.nlm.nih.gov/.

Disclaimer: This article provides information on the PDHB gene and related diseases for educational purposes. It is not a substitute for professional medical advice. Consult a healthcare provider for personalized information and guidance.

Gene and Variant Databases

In order to research and gather information about the PDHB gene and related variants, it is essential to utilize gene and variant databases. These databases provide an extensive collection of articles, citations, and references that are crucial for understanding the various aspects of the PDHB gene, its functions, and the associated genetic changes.

Several databases can be used to explore the PDHB gene and related variants. These databases include:

OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of genes, genetic conditions, and related information. It provides detailed descriptions of the PDHB gene, its functions, and associated diseases.
PubMed: PubMed is a widely-used scientific database that offers a vast collection of articles and references. It is an excellent resource for finding scientific publications on the PDHB gene, including research papers, case studies, and clinical trials.
Genetests: Genetests is a database that provides information about genetic tests and testing laboratories. It offers a comprehensive overview of the testing options available for PDHB gene-related conditions, including information on the types of tests and laboratories that offer them.
The Brown Variant Database: This database specifically focuses on the variant changes in the PDHB gene. It provides information on the different mutations and variant types that can occur, as well as their impact on the gene’s function and associated health conditions.
The PDHB Gene Registry: The PDHB Gene Registry is a database that focuses on collecting and sharing information about the PDHB gene variants found in individuals. It serves as a platform to collate data on the different variant types, their prevalence, and associated clinical features.

These databases are invaluable resources for researchers, clinicians, and individuals interested in studying or understanding the PDHB gene and related variants. They offer a wealth of information, including scientific articles, genetic changes, syndrome names, and testing options for the PDHB gene. Additionally, they provide insight into the function and impact of the PDHB gene on various health conditions.

It is crucial to utilize these databases and their resources to gain a comprehensive understanding of the PDHB gene, its function, and the associated health conditions. Through the use of these databases, researchers and clinicians can access information that can contribute to further advancements in the field of PDHB gene research and the development of targeted therapies for related diseases and conditions.

References

Brown, G. K., Otero, L. J., LeGris, M., et al. (1994). Pyruvate dehydrogenase deficiency. Journal of Medical Genetics, 31(12), 875-879.
OMIM. (2009). Pyruvate dehydrogenase deficiency. Online Mendelian Inheritance in Man. Retrieved from https://www.ncbi.nlm.nih.gov/omim/312170
PubMED. (2021). Search results for PDHB gene. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=PDHB+gene
Pyruvate Dehydrogenase Deficiency (PDHD) Registry. (n.d.). In Registry of Genotypes and Phenotypes. Retrieved from https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000019.v2.p1
e1beta (PDHB). (n.d.). In GeneCards. Retrieved from https://www.genecards.org/cgi-bin/carddisp.pl?gene=PDHB
Testing in PDHB gene. (n.d.). In Brown University Genomic Medicine. Retrieved from https://genomicmedicine.brown.edu/clinical/index.php?area=gene%26amp;geneid=3091
Pyruvate Dehydrogenase. (2021). In Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/gene/PDHB
Citation for PDHB gene. (n.d.). In Human Gene Mutation Database (HGMD). Retrieved from https://portal.biobase-international.com/hgmd/pro/mutsel.php?access=PDHB
Pyruvate Dehydrogenase E1-beta Subunit (PDHB). (n.d.). In UniProt. Retrieved from https://www.uniprot.org/uniprot/P11177
Pyruvate Dehydrogenase. (n.d.). In Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/condition/pyruvate-dehydrogenase-deficiency