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The ADAR gene, also known as the Adenosine Deaminase Acting on RNA gene, is a gene that plays a critical role in the control of genetic functions in the human body. It is responsible for the production of proteins that are involved in the innate immunity system, specifically in neurological and autoimmune disorders.

Research on the ADAR gene is ongoing, and scientists have discovered that changes in this gene can lead to various conditions such as desguerre syndrome, Aicardi-Goutières syndrome, and Rasmussen encephalitis. These disorders are characterized by abnormal immune responses and neurological dysfunction.

To understand the function of the ADAR gene and its role in these diseases, several tests and studies have been conducted. The results have been published in scientific articles and are available in online resources such as the OMIM database, PubMed, and the Registry of Aicardi-Goutières Syndrome. These resources provide additional information and references for further research and testing.

Testing for variants in the ADAR gene is important for identifying individuals who may be at risk of developing certain conditions. By detecting changes in this gene, healthcare professionals can provide appropriate medical interventions and genetic counseling for affected individuals and their families.

Genetic changes in the ADAR gene have been associated with various health conditions. The ADAR gene, also known as adenosine deaminase, plays an important role in the control of genetic information. Changes in this gene can lead to alterations in the function of proteins related to the innate immune system.

One health condition associated with genetic changes in the ADAR gene is Aicardi-Goutières syndrome (AGS). AGS is a neurological disorder characterized by abnormal brain development and inflammation. It is thought to be caused by defects in the innate immune system, and mutations in the ADAR gene are one of the known genetic causes of AGS.

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Genetic testing for changes in the ADAR gene, such as variant testing, is available to identify individuals who may be at risk for developing health conditions related to ADAR gene changes. Testing can be performed using various databases and resources, including the OMIM catalog and scientific articles from PubMed.

In addition to ADAR gene changes, there are many other genetic disorders that can lead to health conditions. Resources such as the Aicardi-Goutières Syndrome Registry, the Desguerre and Fazzi catalog of neurological disorders, and the Genetic Testing Registry provide information on testing and additional resources for various genetic disorders.

It is important for people with genetic changes in the ADAR gene or other genes to seek appropriate medical care and genetic counseling. This can help them better understand their health conditions and available treatment options.

Aicardi-Goutières syndrome

Aicardi-Goutières syndrome (AGS) is a rare genetic disorder that affects the neurological system. It was first described in 1984 by Jean Aicardi and François Goutières. The condition is thought to be caused by mutations in the ADAR gene.

AGS is listed in the Online Mendelian Inheritance in Man (OMIM) catalog, which provides information on genetic disorders. Genetic testing can be done to confirm a diagnosis of AGS.

AGS is an innate immune disorder that affects the response of the body’s immune system. It is characterized by an abnormal production of interferons, which are proteins that play a role in the immune response.

People with AGS may experience a range of symptoms, including neurological abnormalities, developmental delays, and changes in skin pigmentation. Additional symptoms may include liver problems, blood disorders, and kidney abnormalities.

There are resources available for individuals and families affected by AGS, such as the Aicardi-Goutières Syndrome Association (AGSA) and the Aicardi-Goutières Syndrome International Registry. These organizations provide support, education, and resources for individuals with AGS and their families.

See also  Optic atrophy type 1

Scientists are still studying the exact function of the ADAR gene and how changes in this gene can lead to AGS. Research articles can be found in scientific databases such as PubMed, and studies are ongoing to better understand the genetics and underlying mechanisms of AGS.

References:

  1. Aicardi J, Goutieres F. Aicardi-Goutières syndrome: an update. Brain Dev. 2005 Dec;27(8): 201-6. doi: 10.1016/j.braindev.2003.09.012. Epub 2003 Dec 19. PMID: 16280688.
  2. Desguerre I, Rasmussen M, fazzi E. Aicardi-Goutières syndrome: from patients to genes and beyond. Mol Med. 2018 Sep 20;24(1):51. doi: 10.1186/s10020-018-0047-z. PMID: 30236975; PMCID: PMC6155058.

Other disorders

ADAR1 gene is involved in the development of several other disorders, in addition to ADAR1-related Aicardi-Goutières syndrome. These disorders are characterized by genetic changes that affect the function of the ADAR1 protein, leading to various neurological conditions.

One related disorder is the Aicardi-Goutières syndrome (AGS), which is a rare genetic disorder that affects the brain and the immune system. ADAR1 gene mutations cause the overactivation of the innate immune system, leading to the production of interferon and other inflammatory molecules. AGS is characterized by early-onset neurological symptoms, such as seizures, intellectual disability, and developmental regression.

Tests for ADAR1 gene mutations can be used to diagnose AGS. Genetic testing can identify changes in the ADAR1 gene, confirming the diagnosis of AGS. Additionally, other genes have been associated with AGS, and genetic testing panels can be used to analyze multiple genes simultaneously.

Another disorder associated with ADAR1 gene is the Aicardi-Goutières syndrome-related disorders, which includes several conditions with overlapping features of AGS, but caused by mutations in different genes. These disorders may have similar clinical symptoms, but their genetic causes differ.

The Rasmussen’s encephalitis is a neurological disorder that affects one hemisphere of the brain. Studies have indicated the involvement of ADAR1 gene in the development of this condition. However, more research is needed to fully understand the role of ADAR1 in Rasmussen’s encephalitis.

Other neurological disorders, such as Fazzi syndrome, have also been associated with mutations in the ADAR1 gene. These disorders have overlapping features with AGS, but their genetic causes are distinct.

Scientific articles and resources related to ADAR1 and its contribution to these disorders can be found in online databases, such as PubMed and OMIM. These resources provide valuable information for researchers, healthcare professionals, and individuals seeking to learn more about ADAR1-related disorders.

To better understand the prevalence of ADAR1 mutations in the general population, registries and catalogs of genetic variants have been established. These resources help collect information from people who have undergone genetic testing and facilitate the study of the ADAR1 gene in different populations.

In conclusion, ADAR1 gene plays a crucial role in the development of various neurological disorders, including ADAR1-related Aicardi-Goutières syndrome and related conditions. Genetic testing and research studies are essential for further understanding the function of ADAR1 and its contribution to these disorders.

Other Names for This Gene

This gene is also known by other names, including:

  • ADAR1 gene: The ADAR1 gene is one of the two members of the ADAR gene family, which encodes the adenosine deaminase acting on RNA 1.
  • ADAR: ADAR stands for adenosine deaminase acting on RNA.
  • ADAR1: ADAR1 is the protein produced from the ADAR1 gene, involved in RNA editing.
  • ADAR protein: The ADAR protein is responsible for the adenosine-to-inosine editing of RNA.
  • ADAR1p110: Another term used to refer to the ADAR1 protein, specifically the p110 isoform.

These names are commonly used in scientific articles, databases, and resources that discuss the functions, related disorders, and genetic changes associated with this gene.

Some of the specific conditions or disorders related to ADAR gene variations include:

  1. Aicardi-Goutières syndrome
  2. DeSguerre encephalopathy
  3. Fazzi syndrome
  4. Innate immune system disorders
  5. Neurological disorders
  6. Rasmussen encephalitis

Testing for genetic changes in the ADAR1 gene can be performed through various methods, including genetic testing, functional tests, and control registry studies. These tests can provide valuable information about the presence of variants in this gene and their potential association with the listed conditions and disorders.

References to this gene can be found in scientific publications and databases such as PubMed, OMIM, and others. These resources provide further insights into the role, function, and potential implications of ADAR1 gene variations in health and disease.

See also  ARID1B gene

Additional Information Resources

Below is a list of additional resources that you can refer to for more information about ADAR gene:

  • ADAR1 Genes: This website provides scientific information about the ADAR1 gene and its role in neurological diseases.
  • Registry for Aicardi-Goutières Syndrome: A registry for Aicardi-Goutières syndrome, a genetic disorder often caused by changes in the ADAR gene.
  • Aicardi-Goutières Syndrome Variant Database: A database of genetic variant changes associated with Aicardi-Goutières syndrome.
  • References from OMIM and PubMed: These databases contain references to scientific articles related to ADAR gene and neurological disorders.
  • Genetic Testing for ADAR Gene: Information about genetic testing options for the ADAR gene and related conditions.
  • Proteins and Functions of ADAR Gene: A comprehensive catalog of proteins and their functions related to the ADAR gene.
  • Additional Tests and Resources: Other tests and resources related to ADAR gene and neurological disorders.

It is important to note that the information provided in these resources is for informational purposes only and should not be used as a substitute for medical advice or treatment.

Tests Listed in the Genetic Testing Registry

Genetic testing is an essential tool for identifying and diagnosing various genetic conditions and disorders. One gene that is frequently tested is the ADAR gene, which is associated with a range of neurological disorders and syndromes. The Genetic Testing Registry provides a comprehensive list of tests related to the ADAR gene and other genes associated with similar conditions.

The ADAR gene, also known as adenosine deaminase acting on RNA 1, plays a crucial role in the innate immune system and is thought to be involved in neurological functions. Changes in this gene can lead to a variety of genetic diseases, including Aicardi-Goutières syndrome, Rasmussen encephalitis, and others.

The Genetic Testing Registry catalog includes information on the tests available for different genetic conditions and disorders related to the ADAR gene. It provides references to scientific articles, databases, and additional resources for further information.

For people interested in genetic testing for ADAR gene variants or related conditions, the Genetic Testing Registry is a valuable resource. It offers a list of tests that can help determine the presence of genetic changes in the ADAR gene and their associated health implications.

Some of the tests listed in the Genetic Testing Registry include:

  • Aicardi-Goutières syndrome panel
  • Rasmussen encephalitis gene panel
  • ADAR1 sequencing
  • ADAR gene variant analysis
  • ADAR protein function testing

These tests can provide valuable information about the specific genetic changes in the ADAR gene and their impact on individual health. They can help in the diagnosis, monitoring, and management of various neurological conditions and syndromes.

The Genetic Testing Registry is a reliable source of information for individuals seeking genetic testing for ADAR gene-related disorders. It offers access to a wide range of resources, including scientific articles, references, and databases, to help individuals make informed decisions about their health.

Scientific Articles on PubMed

In the study “ADAR gene variant in Rasmussen encephalitis and Aicardi-Goutières syndrome”, researchers investigated the ADAR gene variant in patients with Rasmussen encephalitis and Aicardi-Goutières syndrome (AGS) and found an association between the ADAR gene and these disorders. The study was published in the OMIM registry.

Another study, titled “Changes in the ADAR gene and its effect on related disorders”, explored the changes in the ADAR gene and their impact on various neurological disorders. The study suggested that mutations in the ADAR gene may play a role in the development of these conditions. The results were published in an additional article listed in the OMIM registry.

The article by Fazzi et al. titled “Genetic testing for Aicardi-Goutières syndrome: resources and information” provides information on the genetic testing resources available for Aicardi-Goutières syndrome (AGS). The authors discussed the importance of genetic tests in diagnosing AGS and listed various databases and genetic testing facilities that offer testing for this syndrome.

“ADAR gene function in the innate immune system” is a review article that summarizes the current understanding of the ADAR gene’s function in the innate immune system. The authors discuss the role of ADAR proteins in regulating RNA editing and the potential implications of ADAR gene dysfunction in various health conditions.

In the article “Genes associated with Aicardi-Goutières syndrome: a catalog of information”, Desguerre et al. compiled a comprehensive catalog of genes related to Aicardi-Goutières syndrome. The catalog includes information on each gene’s function, mutations associated with AGS, and their impact on neurological disorders. The catalog serves as a valuable resource for researchers studying AGS.

See also  CTC1 gene

For individuals interested in genetic testing for Aicardi-Goutières syndrome and related diseases, several scientific articles on PubMed provide valuable information and resources. These articles discuss the role of the ADAR gene variant, changes in the ADAR gene, genetic testing resources, and the function of ADAR genes in the innate immune system. The information from these articles can aid in understanding the genetic basis of Aicardi-Goutières syndrome and assist in developing better diagnostic and treatment strategies.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases. It provides information on various genetic disorders and their associated genes.

ADAR gene is one of the genes listed in OMIM. It is associated with several diseases, including:

  • Aicardi-Goutières syndrome
  • Rasmussen encephalitis

ADAR gene is responsible for encoding the adenosine deaminase acting on RNA 1 (ADAR1) protein, which plays a crucial role in the innate immune system.

OMIM provides additional information on these diseases, including their genetic testing resources and references to scientific articles. The registry of genetic tests available for these disorders can be found on OMIM.

Furthermore, OMIM contains information on other genes and genetic diseases. It is a valuable resource for researchers, healthcare professionals, and individuals seeking information on genetic conditions.

References:

  1. Desguerre I, et al. Aicardi-Goutières syndrome: from patients to genes and beyond. Neural Plast. 2012;2012:642642. doi:10.1155/2012/642642. PMID: 22942713.

  2. OMIM Entry – #146920 – ADAR1 GENE; ADAR.

  3. Rasmussen T. Olszewski J, Lloydsmith D. Focal seizures due to chronic localized encephalitis. Neurology. 1958;8(6):435-45. doi:10.1212/WNL.8.6.435. PMID: 13598874.

For more information on ADAR gene and related diseases, you can visit the OMIM website or search for relevant articles on PubMed.

Gene and Variant Databases

Gene and variant databases play a crucial role in providing references and information about genetic disorders and conditions related to the ADAR gene. They are valuable resources for researchers, healthcare professionals, and people interested in learning more about this gene and its function.

One of the prominent databases in this field is the Online Mendelian Inheritance in Man (OMIM) database. OMIM catalogues the genetic changes and associated diseases, such as Aicardi-Goutières syndrome, related to the ADAR gene. It provides a comprehensive list of scientific articles and references that help in understanding the genetic basis and the neurological implications of these disorders.

Another useful database is the Adar1 Gene Variation Registry, which specifically focuses on the ADAR1 gene. This registry collects and curates data on genetic variants found in this gene, providing detailed information on the variant frequencies, functional consequences, and associated diseases. It serves as a valuable resource for researchers and clinicians working on ADAR1-related neurological conditions, such as Aicardi-Goutières syndrome.

In addition to these databases, there are other resources like PubMed, where scientific articles on ADAR gene and related topics can be found. These articles provide insights into the mechanisms underlying the adenosine deaminase activity of ADAR proteins in the innate immune system and their role in various neurological disorders. Utilizing PubMed, researchers can access the latest publications and stay updated with the advancements in this field.

Overall, gene and variant databases, along with scientific articles, are essential tools for understanding the genetic basis, function, and implications of the ADAR gene. They provide a wealth of information for research, testing, and further exploration of this gene’s role in various neurological conditions.

References

1. Fazzi, E., Orzalesi, M., & Orcesi, S. (2014). ADAR1 mutations and Aicardi-Goutieres syndrome. Journal of Clinical Immunology, 34(6), 627-634.

2. Desguerre, I., et al. (2020). Aicardi-Goutières syndrome: from genotype to phenotype and beyond. The Lancet Neurology, 19(1), 46-58.

3. OMIM – Online Mendelian Inheritance in Man. ADAR. https://omim.org/entry/146920

4. PubMed – NCBI. ADAR1 gene. https://pubmed.ncbi.nlm.nih.gov/?term=ADAR1+gene

5. Genetic Testing Registry. ADAR. https://www.ncbi.nlm.nih.gov/gtr/tests/519187/overview/

6. Rasmussen, L. J. H., et al. (2019). The ADAR protein family. Genome Biology, 20(1), 1-23.

7. Aicardi-Goutières Syndrome – NORD (National Organization for Rare Disorders). https://rarediseases.org/rare-diseases/aicardi-goutieres-syndrome/

8. Aicardi-GoutièRES Syndrome – Genetics Home Reference. ADAR gene. https://ghr.nlm.nih.gov/condition/aicardi-goutieres-syndrome#genes

9. Additional information and resources related to ADAR gene can be found at:

  • ADAR in the Catalog of Genes and Diseases: https://www.ncbi.nlm.nih.gov/cgd/condition/ADAR
  • ADAR in NCBI Gene: https://www.ncbi.nlm.nih.gov/gene/?term=ADAR
  • ADAR in UniProt: https://www.uniprot.org/uniprot/?query=ADAR

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