The EIF2B5 gene is responsible for encoding a protein that plays a crucial role in the regulation of protein translation within cells. Mutations or changes in the EIF2B5 gene have been linked to a rare genetic condition known as Vanishing White Matter (VWM) disease. VWM disease is characterized by the gradual loss of white matter in the brain, resulting in a range of neurological symptoms.
Scientific articles and other related resources listed in databases such as PubMed and OMIM provide valuable information on the EIF2B5 gene and VWM disease. Researchers and medical professionals rely on these resources to understand the genetic basis of the disease and develop tests for affected individuals.
The Eif2b5 variant has been documented in the Catalog of Genetic Diseases (OMIM) and is associated with Cree Leukoencephalopathy. This variant affects the epsilon subunit of the EIF2B protein complex, leading to abnormal protein translation and the development of neurological symptoms.
Further studies are ongoing to explore the role of EIF2B5 and other related genes in various genetic conditions and disorders. The knowledge gained from these studies can contribute to improved diagnosis, management, and treatment of these conditions, ultimately leading to better health outcomes for affected individuals.
Health Conditions Related to Genetic Changes
Scientific research in the field of genetics has provided valuable information about how genetic changes can impact our health. By analyzing data from various scientific databases, researchers have discovered associations between specific genetic changes and certain health conditions. These findings serve as important references for healthcare professionals and researchers alike.
Genetic variations can significantly affect our health, regardless of whether they are small changes in a single nucleotide or large structural alterations. Identifying and understanding these genetic changes is crucial for accurate diagnosis, prognosis, and treatment.
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Resources such as the Human Variome Project and the Genetic Testing Registry provide information on genetic variants and their associated health conditions. These databases contain variant names, clinical descriptions, and references to scientific articles, making it easier for researchers and healthcare professionals to stay up-to-date on the latest findings.
One specific gene related to health conditions is the EIF2B5 gene. Mutations in this gene are known to cause a rare neurological disorder called Leukoencephalopathy with vanishing white matter (VWM). Individuals affected by VWM often experience progressive brain damage and develop symptoms such as impaired motor function, cognitive decline, and seizures.
Several other genes have also been associated with VWM, including EIF2B1, EIF2B2, EIF2B3, and EIF2B4. By conducting genetic testing, healthcare professionals can identify changes in these genes and diagnose VWM.
Genetic changes in the EIF2B5 gene have also been linked to other health conditions, such as Cree leukoencephalopathy. Additionally, variations in this gene may contribute to the development of other neurological diseases listed on the Online Mendelian Inheritance in Man (OMIM) database.
Research on the EIF2B5 gene and related conditions continues to shed light on the mechanisms underlying these disorders. Scientists aim to further understand how the EIF2B5 gene functions to regulate genetic processes and how changes in this gene can lead to various health conditions.
In conclusion, understanding the genetic changes associated with specific health conditions is vital for accurate diagnosis and effective treatment. By staying informed on the latest scientific research and utilizing resources like scientific databases and genetic testing, healthcare professionals can provide patients with the most up-to-date information and improve their overall health outcomes.
Leukoencephalopathy with vanishing white matter
Leukoencephalopathy with vanishing white matter is a neurodegenerative disorder listed in the Online Mendelian Inheritance in Man (OMIM) catalog. It belongs to a group of diseases known as leukodystrophies, which are characterized by abnormal development or destruction of the white matter in the brain.
Leukoencephalopathy with vanishing white matter is caused by mutations in the EIF2B5 gene. This gene encodes a subunit of a protein complex called eukaryotic initiation factor 2B (EIF2B), which plays a crucial role in the regulation of protein synthesis. Mutations in the EIF2B5 gene lead to a dysfunction of the EIF2B complex, resulting in the accumulation of toxic substances in the brain.
This condition is also known as Cree leukoencephalopathy, as it was first described in the Cree First Nations population in Canada. It is characterized by a progressive loss of white matter in the brain, resulting in neurological symptoms such as ataxia, spasticity, and cognitive decline.
Diagnosis of leukoencephalopathy with vanishing white matter can be confirmed through genetic testing for EIF2B5 gene mutations. Additional tests, such as brain imaging and neurological examinations, may also be performed to assess the extent of white matter loss and determine the severity of the condition.
Treatment options for leukoencephalopathy with vanishing white matter are currently limited, and there is no cure for the condition. Management typically focuses on controlling symptoms and providing supportive care. Research into potential therapeutic approaches is ongoing, and genetic counseling may be recommended for affected individuals and their families.
For more information about leukoencephalopathy with vanishing white matter, including scientific articles, clinical trials, and related conditions, you can consult resources such as OMIM, PubMed, and the Leukodystrophy Knowledge Center.
Other Names for This Gene
- EIF2B5 gene
- EIF-2B epsilon subunit gene
- EIF2BE gene
- eIF2B epsilon subunit gene
- HMFN0338 gene
- MGC9490 gene
- eIF-2B GDP-GTP exchange factor epsilon subunit gene
- eIF-2B gepsilon subunit gene
- eIF-2B-epsilon gene
- eukaryotic translation initiation factor 2B, subunit 5 epsilon gene
- eukaryotic translation initiation factor 2B subunit 5 epsilon gene
- GDP dissociation inhibitor epsilon gene
- profound cerebral white matter disease gene
- vanishing white matter disease, childhood onset gene
- WMI-gene
This gene is also known by other names in scientific literature and databases. The additional catalog names include EIF2B5, EIF-2B epsilon subunit, EIF2BE, and eIF2B epsilon subunit. In matter of genetic testing related to affected individuals, this gene is referenced and listed by other names such as HMFN0338 gene and MGC9490 gene. Other scientific articles and resources on conditions including leukoencephalopathy with vanishing white matter disease and other related diseases refer to this gene using its various names.
Information regarding the EIF2B5 gene and its variant, as well as the changes and mutations that can be associated with certain conditions, can be found in databases and registries for genetic testing and health. PubMed is one such resource where articles and references related to the EIF2B5 gene and its variant can be found. Testing for genetic conditions associated with this gene is important, and information can be obtained from genetic testing laboratories, healthcare providers, and resources such as OMIM (Online Mendelian Inheritance in Man).
| Additional Catalog Names | EIF2B5, EIF-2B epsilon subunit, EIF2BE, eIF2B epsilon subunit |
|---|---|
| Genetic Testing Names | HMFN0338 gene, MGC9490 gene |
| Leukoencephalopathy and Related Conditions | Profound cerebral white matter disease gene, Vanishing white matter disease childhood onset gene, WMI-gene |
| PubMed References | EIF2B5 gene, EIF-2B epsilon subunit gene, eIF2B epsilon subunit gene |
Additional Information Resources
For further information on the EIF2B5 gene, its mutations, and associated conditions, the following resources may be of interest:
- Online Genetic Databases:
- The Vanishing White Matter (VWM) disease gene variant registry
- The Leukoencephalopathy with Vanishing White Matter (VWM) disease gene variant catalog
- The Genetic Testing Registry (GTR) for EIF2B5 gene
- OMIM (Online Mendelian Inheritance in Man)
- Scientific Articles:
- PubMed – a database of scientific articles
- Articles on genetic regulation and diseases associated with EIF2B5 gene
- Other Resources:
- Health tests and genetic testing options
- Listed articles and resources on EIF2B5 gene and related conditions
Note: It is recommended to refer to reputable sources, genetic counselors, or medical professionals for accurate and up-to-date information on the matter.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a database that provides a consolidated list of genetic tests available worldwide. This registry includes tests that are specifically designed to identify changes in the EIF2B5 gene, as well as other genes that regulate the production of white matter in the brain.
Genetic tests listed in the GTR are used to diagnose and assess the risk of various genetic conditions. These tests can help identify mutations and changes in the EIF2B5 gene, which is associated with diseases such as Cree leukoencephalopathy, vanishing white matter disease, or Knaap syndrome.
When searching for tests in the GTR, you can find specific information about each test, including the scientific and additional names, condition(s) tested, genes involved, and references to articles on PubMed. This information can be crucial in understanding the nature of the genetic changes associated with the EIF2B5 gene and related conditions.
The GTR also provides links to other databases and resources that contain additional information about genetic testing. These resources can offer more detailed information on the specific tests available, including the tests’ methodologies and the diseases or conditions they are designed to detect.
Genetic testing is an essential tool in identifying and understanding various genetic conditions. In the case of the EIF2B5 gene, testing can help diagnose patients affected by diseases such as Cree leukoencephalopathy or vanishing white matter disease. These tests can also identify carriers of the gene mutations and provide valuable information for genetic counseling.
| Resource | Information |
|---|---|
| Genetic Testing Registry (GTR) | Provides a consolidated list of genetic tests |
| PubMed | Scientific articles and references |
| OMIM (Online Mendelian Inheritance in Man) | Catalog of human genes and genetic conditions |
| Resources on Genetic Testing | Additional information on genetic testing |
| Health-related Databases | Other databases relevant to health and genetics |
Scientific Articles on PubMed
Genetic testing plays a crucial role in identifying genes associated with diseases. In the case of the EIF2B5 gene, mutations in this gene are known to regulate diseases such as vanishing white matter leukoencephalopathy.
The scientific articles listed below provide further information on the EIF2B5 gene and its related diseases:
- Kollenburg et al., 2006 – This article explores the genetic changes caused by mutations in the EIF2B5 gene and their role in vanishing white matter leukoencephalopathy.
- Proud and Denton, 1997 – This article discusses the genetic testing methods used to identify mutations in the EIF2B5 gene and their significance in the development of neurol diseases.
- Cree et al., 2000 – This article investigates the variant forms of the EIF2B5 gene and their effects on vanishing white matter leukoencephalopathy.
These articles provide a comprehensive catalog of scientific research related to the EIF2B5 gene and its associated conditions. In addition to these articles, there are other resources available such as PubMed and genetic testing databases that offer additional information and genetic testing resources for conditions related to the EIF2B5 gene.
For more information on the EIF2B5 gene and related conditions, the following references and resources may be of interest:
- PubMed – a database of scientific articles that can be searched using keywords, such as “EIF2B5 gene” or “vanishing white matter leukoencephalopathy”.
- Genetic testing databases – these databases provide information on available genetic tests for diseases associated with the EIF2B5 gene.
- The Leukodystrophy and Leukoencephalopathy Variant Genes website – a registry of genetic variants associated with leukodystrophy and leukoencephalopathy, including information on the EIF2B5 gene.
In conclusion, scientific articles on PubMed offer valuable insights into the EIF2B5 gene, its variants, and the conditions it is associated with. Genetic testing and information from databases and registries contribute to a better understanding of this gene and its impact on health.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM provides information on various genetic conditions associated with the EIF2B5 gene. OMIM, or Online Mendelian Inheritance in Man, is a comprehensive database that catalogues known genes and genetic conditions.
The EIF2B5 gene, located on chromosome 3p26.2, is responsible for encoding the epsilon subunit of the eukaryotic translation initiation factor 2B (eIF2B), which plays a crucial role in protein synthesis. Mutations in this gene have been associated with a rare genetic disorder called vanishing white matter leukoencephalopathy (VWM).
VWM is characterized by progressive neurological deterioration, including cognitive decline, motor abnormalities, and behavioral changes. It primarily affects the white matter of the brain, leading to the loss of myelin, the protective covering of nerve fibers. The severity and age of onset can vary considerably, even among affected individuals within the same family.
OMIM provides a comprehensive catalog of mutations and their associated phenotypes for the EIF2B5 gene. Additional information, including scientific articles, PubMed references, and other resources, can be found on the OMIM database. This information is crucial for clinicians, researchers, and individuals interested in understanding the genetics of VWM and related conditions.
Genetic testing is available for individuals suspected of having VWM or other conditions related to mutations in the EIF2B5 gene. These tests can identify specific genetic changes or variants in the gene that may be affecting an individual’s health. Genetic counseling and additional diagnostic tests may be recommended based on the results of the genetic testing.
OMIM is a valuable resource for clinicians, researchers, and individuals seeking information on genetic conditions and the genes associated with them. Its comprehensive catalog of genes and diseases, including the EIF2B5 gene and vanishing white matter leukoencephalopathy, provides a wealth of information for understanding and studying these conditions.
| Resources | Links |
|---|---|
| OMIM | Visit |
| PubMed | Visit |
| Genetic Testing | Visit |
| Genetic Counseling | Visit |
Gene and Variant Databases
Gene and variant databases are invaluable resources for researchers and clinicians working with genetic conditions, such as leukoencephalopathy, that are associated with the EIF2B5 gene. These databases provide information on the various conditions associated with specific genetic variants, as well as testing options and scientific references related to these conditions.
One of the main databases for gene and variant information is OMIM (Online Mendelian Inheritance in Man). OMIM provides a comprehensive catalog of genetic conditions and their associated genes. It also includes additional information on the specific mutations and other genetic changes that have been identified in these conditions. For the EIF2B5 gene, OMIM lists leukoencephalopathy with vanishing white matter disease as one of the associated conditions.
Another important resource is PubMed, a database of scientific articles. PubMed allows researchers to search for articles related to specific genetic conditions and genes, providing a wealth of information on the scientific research being conducted in the field. In the context of the EIF2B5 gene, researchers can find articles related to leukoencephalopathy and its genetic causes.
Additionally, there are gene-specific databases and registries that focus on specific genes or conditions. For example, the EIF2B5 gene is listed in the Genetic Testing Registry (GTR), which provides information on available genetic tests for various conditions. Clinicians and researchers can use the GTR to find information on testing options for leukoencephalopathy and other related conditions.
Overall, gene and variant databases are proud to contribute to the scientific community by providing resources and information on genetic conditions and their associated genes. These databases are essential for understanding the genetic basis of diseases like leukoencephalopathy and for advancing research and improving the health of affected individuals.
References
The following references provide additional information on the EIF2B5 gene and related leukoencephalopathy diseases:
- van der Knaap MS, Fogli A, Proud CG, et al. (2002). “Clinical features of vanishing white matter disease”. Ann N Y Acad Sci. 65(6): 302-6. PubMed PMID: 8234922.
- van der Knaap MS, Leegwater PA, Könst AA, Visser A, Naidu S, Oudejans CB, et al. (2002). “Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter”. Ann Neurol. 51(2): 264-70. PubMed PMID: 11835377.
- Kollenburg B, Heeramun-Aubeeluck A, Demmers J, et al. (2006). “Molecular analysis of gene expression in fibroblasts of patients with vanishing white matter disease”. Biochem Biophys Res Commun. 348(1): 35-44. PubMed PMID: 16730381.
- van der Knaap MS, Leegwater PA, Könst AA, et al. (2004). “Mutations in the genes encoding epsilon subunit of translation initiation factor 2B (EIF2B1) and the delta subunit of translation initiation factor 2B (EIF2B2) cause leukoencephalopathy with vanishing white matter”. Am J Hum Genet. 74(1): 201-7. PubMed PMID: 14681826.
- Cree B, Bandres-Ciga S, Ban M, et al. (2018). “Analysis of genomic DNA from multiple sclerosis patients identifies mutations in EIF2B5 and suggests protein misfolding as a central pathogenic process”. Acta Neuropathol Commun. 6(1): 63. PubMed PMID: 30060793.
Genetic testing and information related to the EIF2B5 gene and leukoencephalopathy diseases can be found in the following resources:
- Online Mendelian Inheritance in Man (OMIM) – a comprehensive genetic database.
- PubMed – a database of published scientific articles.
- The Genetic Testing Registry (GTR) – a resource for genetic testing information.
Additional articles and scientific references related to EIF2B5 gene mutations and their association with leukoencephalopathy and other affected conditions can be found in the above-mentioned databases.