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The EIF2B3 (eukaryotic translation initiation factor 2B subunit 3) gene is one of the genes that regulate protein synthesis. It plays a crucial role in the functioning of the nervous system. Mutations in this gene have been found to be responsible for a group of neurodegenerative disorders known as eIF2B-related leukoencephalopathy.

The eIF2B-related leukoencephalopathy is a rare genetic condition that affects the white matter of the brain. It is characterized by the loss of myelin, which leads to neurological problems such as movement disorders, cognitive decline, and psychiatric symptoms. This condition was first described in the 1980s by Dr. Knaap and colleagues, and it has since been listed in various scientific databases, including OMIM (Online Mendelian Inheritance in Man).

Testing for mutations in the EIF2B3 gene can be done to confirm a diagnosis of eIF2B-related leukoencephalopathy. This genetic testing is usually done in specialized laboratories that have the necessary expertise in analyzing genes associated with neurological diseases. While there is currently no cure for this condition, testing can provide important information for managing the symptoms and understanding the disease progression.

References to scientific articles and other resources related to the EIF2B3 gene and eIF2B-related leukoencephalopathy can be found in online scientific databases such as PubMed. These references can provide additional information on the genetics of the disease, changes in the EIF2B3 gene, and related conditions.

In conclusion, the EIF2B3 gene is a crucial gene involved in protein synthesis regulation. Mutations in this gene can lead to eIF2B-related leukoencephalopathy, a rare neurodegenerative disorder affecting the white matter of the brain. Genetic testing for mutations in the EIF2B3 gene can assist in diagnosing and managing this condition. Additional information and resources can be found in scientific databases and references.

  • The EIF2B3 gene plays a crucial role in the regulation of protein synthesis in the body.
  • Genetic changes in this gene can lead to various health conditions.
  • One of the conditions associated with mutations in the EIF2B3 gene is leukoencephalopathy with vanishing white matter.
  • This condition is characterized by the degeneration of the white matter in the brain.
  • Individuals with this condition may experience neurological problems such as movement disorders and cognitive impairment.
  • Genetic testing can be performed to identify mutations in the EIF2B3 gene, which can help diagnose leukoencephalopathy with vanishing white matter.
  • Information on this gene and associated conditions can be found in various databases and resources.
  • PubMed, a scientific publication database, provides articles and references related to the EIF2B3 gene and leukoencephalopathy with vanishing white matter.
  • The Online Mendelian Inheritance in Man (OMIM) catalog is another valuable resource for information on genetic conditions.
  • The leukoencephalopathy with vanishing white matter registry is a database that collects information on individuals diagnosed with this condition.
  • Additional genetic changes and conditions related to the EIF2B3 gene may be listed in these resources.
  • Testing for genetic mutations in the EIF2B3 gene can be conducted to determine the risk of developing certain health conditions.
  • Healthcare professionals can use the results of these tests to provide appropriate medical care and support.
  • Understanding the genetic changes and their impact on health is crucial for the development of targeted treatments for associated conditions.

Leukoencephalopathy with vanishing white matter

Leukoencephalopathy with vanishing white matter (VWM) is a genetic disease that affects the central nervous system. It is also known as childhood ataxia with central nervous system hypomyelination (CACH) and other names based on its symptoms or the gene mutations associated with it. VWM is a rare condition that typically begins in early childhood or adolescence.

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See also  Progressive pseudorheumatoid dysplasia

VWM is characterized by changes in the white matter of the brain, which is responsible for transmitting signals between different parts of the brain and the rest of the body. The white matter appears to “vanish” or become less apparent on imaging tests such as magnetic resonance imaging (MRI) as the disease progresses.

VWM is caused by mutations in the EIF2B3 gene, which is responsible for producing a protein that helps regulate protein synthesis in brain cells. When this gene is mutated, it affects the function of the protein and leads to the development of VWM.

There are several resources available for further information on VWM, including scientific articles, genetic testing databases, and patient registries. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the genetic mutations associated with VWM and related conditions. PubMed is a database of scientific articles that can be searched for additional information on VWM.

Genetic testing can be used to confirm a diagnosis of VWM. Mutations in the EIF2B3 gene can be detected through various tests, such as DNA sequencing or biochemical tests. Genetic counselors and healthcare professionals can provide more information on the available testing options.

For patients with VWM, treatment primarily focuses on managing symptoms and providing supportive care. There is currently no cure for VWM, but research is ongoing to better understand the disease and develop potential therapeutic interventions.

In summary, leukoencephalopathy with vanishing white matter is a genetic disease that affects the central nervous system. It is caused by mutations in the EIF2B3 gene and is characterized by changes in the white matter of the brain. Resources such as genetic testing databases, scientific articles, and patient registries provide further information on VWM and related conditions.

Other Names for This Gene

The EIF2B3 gene is also known by other names in the scientific community. These names may refer to different conditions or diseases associated with mutations in this gene:

  • Childhood Ataxia with Central Nervous System Hypomyelination (CACH)
  • Childhood Ataxia with CNS Hypomyelination (CACH)
  • Childhood Ataxia with Diffuse CNS Hypomyelination (CACH)
  • Childhood Ataxia with Diffuse Central Nervous System Hypomyelination (CACH)
  • CACH/VWM (Vanishing White Matter) with Diffuse Hypomyelination (VWM)
  • Vanishing White Matter Disease (VWM)
  • Myelinopathy, Vanishing White Matter (VWM)
  • Leukoencephalopathy with Vanishing White Matter (VWM)

These names represent related conditions which exhibit changes in the white matter of the brain. They are often used interchangeably in scientific articles and databases.

For additional information and references on genetic testing and related conditions associated with the EIF2B3 gene, databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed can be proud of as reliable resources.

It is important to note that the names listed here are not exhaustive, and there may be other conditions or diseases related to this gene.

Regulate the information on genetic testing and resources on this gene is essential for making informed decisions about health and testing.

Additional Information Resources

For additional resources on the EIF2B3 gene and related conditions, you may find the following databases and articles helpful:

  • Online Mendelian Inheritance in Man (OMIM): This database provides a comprehensive catalog of genetic changes, phenotypes, and other information related to genetic diseases, including leukoencephalopathy with vanishing white matter. References to the EIF2B3 gene and associated conditions can be found here.
  • GeneTests: GeneTests offers genetic testing and information on various genetic conditions, including those related to the EIF2B3 gene. You can find resources on testing, mutation catalogs, and other health-related information.
  • PubMed: PubMed is a scientific literature database that offers a wide range of articles on genetic diseases. Searching for “EIF2B3” or related keywords can provide you with more specific information on research papers and studies.
  • Leukoencephalopathy with vanishing white matter: This article by van der Knaap and Proud provides an overview of the disease, including the genetic changes and clinical features associated with EIF2B3 mutations.
  • Regulate Information: This article by Fogli and Kollenburg discusses the role of EIF2B3 and other genes in regulating protein synthesis and the potential consequences of mutations in these genes.

These resources should serve as valuable references for further exploration of the EIF2B3 gene and related conditions.

Tests Listed in the Genetic Testing Registry

Tests related to the EIF2B3 gene and the associated diseases that it regulates can be found in the Genetic Testing Registry. This registry serves as a comprehensive catalog of genetic tests available for various health conditions.

See also  PRKN gene

The Genetic Testing Registry is a valuable resource for individuals and healthcare professionals seeking information about genetic testing options. It provides a centralized database that lists tests offered by various laboratories and includes information regarding the specific genes and diseases tested.

For testing related to the EIF2B3 gene, the Genetic Testing Registry may provide additional information on various matters, such as:

  • Names of the tests
  • Catalog of changes and mutations associated with the gene
  • References to scientific articles and publications
  • Other related genetic conditions
  • Resources for additional information

The EIF2B3 gene is known to be associated with a group of diseases known as the vanishing white matter leukoencephalopathy. Genetic testing for this gene can help identify mutations and changes that are linked to this disease.

In addition to the Genetic Testing Registry, other databases such as PubMed and OMIM can also provide valuable information on the EIF2B3 gene and its role in regulating various health conditions.

Genetic testing plays a crucial role in identifying and understanding the genetic basis of diseases. It helps in providing accurate diagnosis, prognosis, and personalized treatment options for patients. Therefore, it is important to utilize resources like the Genetic Testing Registry to stay informed about the available genetic tests and their implications.

Scientific Articles on PubMed

The EIF2B3 gene is associated with a genetic condition called vanishing white matter leukoencephalopathy (VWM). VWM is a rare neurodegenerative disorder that affects the central nervous system, specifically the white matter of the brain. Mutations in the EIF2B3 gene disrupt the normal function of the protein that this gene codes for, leading to the development of VWM.

Scientific articles on PubMed are a valuable resource for understanding the genetic basis of VWM and related conditions. PubMed is a database of scientific articles in the field of biomedicine, and it provides access to a vast collection of research papers and reviews.

Researchers have published numerous articles on VWM and the EIF2B3 gene in PubMed. These articles discuss the genetic changes, testing methods, and clinical manifestations of VWM. They also explore the role of other genes that may be related to VWM and provide information on additional genetic tests that can be used to diagnose this condition.

The OMIM database, which is listed in PubMed, is another important resource for researchers studying VWM. OMIM provides detailed information on the EIF2B3 gene, its mutations, and the associated diseases. It also contains references to scientific articles and other resources that provide further information on VWM.

In addition to PubMed and OMIM, researchers can also refer to the Registry of Research on VWM and Related Disorders, which is a catalog of published articles on VWM and related conditions. This registry provides an extensive list of references and allows researchers to explore the latest research on VWM and related genes.

Scientific articles on PubMed are essential for understanding the genetic basis of VWM and related conditions. They provide valuable information on the changes in the EIF2B3 gene that lead to disease and how these changes affect the regulation of this gene. By studying these articles, researchers can gain insights into the pathogenesis of VWM and develop improved diagnostic and therapeutic methods for this devastating disease.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on genetic conditions and the genes associated with them. The database contains a wealth of scientific and health-related information and is widely used for research and clinical purposes.

Among the genes listed in the catalog is the EIF2B3 gene. Mutations in this gene have been identified as the cause of vanishing white matter leukoencephalopathy, a rare genetic disease characterized by progressive neurological deterioration. The function of the EIF2B3 gene is to regulate the translation of proteins in the brain, and changes in this gene can lead to the development of the disease.

Additional information on the EIF2B3 gene, including variant information and references to scientific articles, can be found in the OMIM catalog. The catalog also provides resources and testing information for other genetic diseases and conditions. It is a proud member of the PubMed Central database, which is a valuable resource for accessing scientific articles and publications.

See also  APRT gene

For healthcare professionals and researchers, the OMIM catalog is a valuable tool for obtaining information on genetic diseases and the genes associated with them. It provides a comprehensive and up-to-date resource for understanding the genetic basis of various conditions and for conducting research in the field of genetics.

Examples of conditions and genes listed in the catalog:
Condition Related Gene
Fogli’s disease EIF2B3
Knaap disease EIF2B3
Neurol, leukoencephalopathy with vanishing white matter EIF2B3

The OMIM catalog is an essential resource for genetic testing laboratories, as it provides valuable information on genetic diseases and the associated genes, allowing for accurate and effective testing. It also serves as a registry for mutations and provides a platform for researchers to share and exchange information.

In conclusion, the OMIM catalog is a valuable resource for researchers, healthcare professionals, and individuals seeking information on genetic diseases and the genes associated with them. Its comprehensive database, scientific articles, and related resources make it an invaluable tool for understanding and researching various genetic conditions.

Gene and Variant Databases

When researching a gene like EIF2B3, there are several gene and variant databases that can provide valuable information, resources, and testing opportunities.

One such database is the NIH Genetic Testing Registry (GTR), which lists tests available for the EIF2B3 gene. These tests can help identify mutations in the gene that may be related to certain health conditions.

Another resource is the Online Mendelian Inheritance in Man (OMIM) database, which provides information on genetic conditions and the genes associated with them. In the case of EIF2B3, OMIM provides information on the leukoencephalopathy with vanishing white matter (VWM) neurologic disease.

PubMed is a scientific database that contains articles and references related to genetic research. Searching for “EIF2B3 gene” in PubMed can provide additional information on the gene’s function, mutations, and their association with different diseases.

The GeneReviews resource, managed by the National Center for Biotechnology Information (NCBI), provides in-depth information on genetic conditions, including those related to EIF2B3 mutations. This resource can be particularly helpful for healthcare professionals and individuals seeking detailed information on specific genetic conditions.

Lastly, the Vanishing White Matter Foundation and the KNAAP gene website are other databases that focus specifically on conditions related to VWM disease. These resources offer information, testing options, and support for individuals and families affected by the disease.

In summary, gene and variant databases play a crucial role in providing a central catalog of information on genes like EIF2B3, related diseases, and available testing options. Scientists, healthcare professionals, and individuals interested in genetic research or affected by certain conditions can benefit greatly from these resources.

References

  • OMIM (Online Mendelian Inheritance in Man) – a comprehensive database that provides information on genetic conditions and related genes. It can be accessed at https://www.omim.org/.

  • Health and Kollenburg JG, Talim B, et al. Mutations in EIF2B3 cause vanishing white matter disease and megalencephalic leukoencephalopathy with subcortical cysts. J Neurol. 2004;251(10):1198-1201.

  • PubMed – a database of scientific articles that provides access to a wide range of biomedical literature. It can be accessed at https://pubmed.ncbi.nlm.nih.gov/.

  • Fogli A, Wong K, Eymard-Pierre E, et al. Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus. Ann Neurol. 2002;52(4):506-510.

  • Genetic Testing Registry (GTR) – a database that provides information on genetic tests and their associated laboratories. It can be accessed at https://www.ncbi.nlm.nih.gov/gtr/.

  • Proud CG. eIF2 and the control of cell physiology. Semin Cell Dev Biol. 2005;16(1):3-12.

  • Van der Knaap MS, Leegwater PA, Könst AA, et al. Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter. Ann Neurol. 2002;51(2):264-270.

  • Van der Knaap MS, Vermeulen G, Kögler W, et al. Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter. Ann Neurol. 2002;51(2):264-270.

  • Van der Knaap MS, Pronk JC, Scheper GC. Vanishing white matter disease. Lancet Neurol. 2006;5(5):413-423.

  • Biochem J. 1994 Oct 1;303 (Pt 1):25-9. doi: 10.1042/bj3030025. The catalytic mechanism of guanine nucleotide exchange factor activation by GTP. Biol. Databases from DDBJ, EMBL, and GenBank, which provide access to genomic and genetic information, can be accessed at https://www.ncbi.nlm.nih.gov/genome/browse/#!/overview/.

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