SETX gene

SETX (senataxin) is a gene that is involved in DNA repair and information coordination. This article provides an overview of the SETX gene and its role in various conditions.

SETX mutations have been associated with several diseases, including ataxia with oculomotor apraxia type 2 (AOA2), Charcot-Marie-Tooth disease type 4B3, and amyotrophic lateral sclerosis type 4. These diseases are characterized by neurodegeneration and other symptoms.

The SETX gene is responsible for coordinating and unwinding DNA during repair processes. Changes in this gene can lead to the development of various conditions. The SETX gene is listed in the Online Mendelian Inheritance in Man catalog, and genetic tests can be done to detect variants in this gene.

Additional scientific articles, resources, and databases are available for further information on the SETX gene and related diseases. The Genetic Testing Registry and PubMed Health are two free resources where references and testing information can be found.

In conclusion, the SETX gene plays a crucial role in DNA repair and is associated with several neurodegenerative conditions. Understanding the functions and variations of this gene can provide valuable insights into the development and diagnosis of related diseases.

Health Conditions Related to Genetic Changes

Genetic changes in the SETX gene can lead to several health conditions. These changes can affect the function of the gene and result in various diseases and disorders.

One health condition related to genetic changes in the SETX gene is oculomotor apraxia. Oculomotor apraxia is a condition characterized by difficulty in coordinating eye movements. It can result in problems with eye tracking, leading to difficulties in focusing on objects and tracking moving objects.

Another health condition associated with genetic changes in the SETX gene is Charcot-Marie-Tooth disease. This disease is a hereditary neuropathy that affects the peripheral nerves, leading to muscle weakness and sensory problems.

Genetic changes in the SETX gene can also cause ataxia. Ataxia is a neurological disorder that affects coordination and balance. It can result in difficulties with walking, speaking, and performing tasks that require precise movements.

Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease, is another health condition related to genetic changes in the SETX gene. ALS is a progressive neurodegenerative disease that affects nerve cells in the brain and spinal cord, leading to muscle weakness and eventually paralysis.

There are several resources available for individuals and healthcare professionals to learn more about health conditions related to genetic changes in the SETX gene. The Online Mendelian Inheritance in Man (OMIM) database provides information about genes and genetic disorders. PubMed is a database of scientific articles and references that can provide additional information on these conditions.

The SETX Gene Variant Database is a repository of information on genetic variants in the SETX gene. The registry aims to catalog and classify these genetic changes to better understand their impact on health and disease.

Genetic testing can be used to identify changes in the SETX gene and diagnose related health conditions. It can help healthcare providers determine the appropriate management and treatment options for individuals affected by these conditions.

In conclusion, genetic changes in the SETX gene can lead to various health conditions such as oculomotor apraxia, Charcot-Marie-Tooth disease, ataxia, and ALS. Understanding these genetic changes and their effects is essential for proper diagnosis, management, and treatment of individuals with these conditions.

Amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease, is a progressive neurodegenerative disease that affects nerve cells in the brain and spinal cord. Individuals with ALS experience muscle weakness and wasting, leading to difficulties with movements, speech, swallowing, and breathing.

The SETX gene, which encodes a DNA helicase involved in DNA repair and unwinding, has been found to be associated with ALS. Mutations in the SETX gene can lead to impaired DNA repair, resulting in accumulation of DNA damage and neurodegeneration seen in ALS. Other genes, such as C9orf72, SOD1, and TARDBP, have also been found to be associated with ALS.

This article will focus on the genetic changes and related genes associated with ALS. It will provide information on the SETX gene, as well as other genes implicated in the disease. Additional references and resources will be listed for further reading and research.

Genetic Changes in Amyotrophic lateral sclerosis

  • The SETX gene is associated with ALS and plays a role in DNA repair and unwinding.
  • Other genes, such as C9orf72, SOD1, and TARDBP, have also been found to be associated with ALS.
  • Mutations in these genes can lead to impaired cellular functions and contribute to the development of ALS.

Related Genes in Amyotrophic lateral sclerosis

  • The C9orf72 gene is the most common genetic cause of ALS and also associated with frontotemporal dementia.
  • The SOD1 gene encodes an enzyme involved in the detoxification of reactive oxygen species and mutations in this gene are associated with familial ALS.
  • The TARDBP gene encodes a RNA-binding protein and mutations in this gene are also associated with familial ALS.

Testing and Diagnosis

Genetic testing can be performed to identify mutations in the SETX and other related genes associated with ALS. This can help confirm a diagnosis and provide information on disease progression and prognosis. Neurological exams, electromyography, and other diagnostic tests are also used to diagnose ALS.

Coordinating Registry and Additional Resources

The Amyotrophic Lateral Sclerosis (ALS) Registry is a scientific registry that collects data on individuals with ALS to facilitate research and provide resources for patients, researchers, and healthcare providers. Additional information and resources on ALS can be found on the ALS Association and Muscular Dystrophy Association websites.

References and Databases

  • PubMed: A comprehensive scientific database that contains articles on ALS and related diseases.
  • OMIM (Online Mendelian Inheritance in Man): A catalog of human genes and genetic conditions with information on ALS and related genes.
  • Free access databases: Various databases provide free access to articles and information on ALS and related diseases.

Ataxia with oculomotor apraxia

Ataxia with oculomotor apraxia is a genetic disease characterized by neurodegeneration and coordination problems. It is caused by mutations in the SETX gene, which is involved in DNA repair and other important cellular processes.

Genetic testing for SETX mutations can confirm a diagnosis of ataxia with oculomotor apraxia. Various databases and registries, such as OMIM, provide information on the genetic changes associated with this condition. They also list additional resources and references for further information.

Ataxia with oculomotor apraxia shares some similarities with other neurodegenerative conditions, such as Charcot-Marie-Tooth disease and amyotrophic lateral sclerosis. However, specific symptoms and genetic changes distinguish it from these disorders.

Research on SETX and its role in DNA repair and neurodegeneration is ongoing. Many scientific articles and publications, available for free on PubMed and other databases, provide more information on this gene and its variants.

Coordinating and unwinding DNA is an essential process for the maintenance of genetic stability and the prevention of diseases. The SETX gene plays a crucial role in this process, and changes in its function can lead to the development of ataxia with oculomotor apraxia.

The Shaw and Becherel labs have made significant contributions to the understanding of SETX and its involvement in DNA repair and neurodegeneration. Their research has shed light on the pathogenesis of ataxia with oculomotor apraxia and related conditions.

For more information on ataxia with oculomotor apraxia and related genetic diseases, consult the following resources:

  • OMIM (Online Mendelian Inheritance in Man) database
  • PubMed for scientific articles
  • Genetic testing facilities for SETX gene testing
  • Charcot-Marie-Tooth disease and amyotrophic lateral sclerosis registries
See Also:  Crouzon syndrome

These resources provide valuable information on the genetics, symptoms, testing, and management of ataxia with oculomotor apraxia and related conditions. They can help individuals and healthcare professionals better understand and address these complex diseases.

Charcot-Marie-Tooth disease

Charcot-Marie-Tooth disease (CMT) is a group of genetic disorders that affect the peripheral nerves, causing muscle weakness and wasting in the arms, legs, hands, and feet. It is named after the three physicians who first described it: Jean-Martin Charcot, Pierre Marie, and Howard Henry Tooth.

CMT is a progressive condition that usually presents in adolescence or early adulthood. The symptoms may vary from mild to severe, but generally involve difficulties with balance and coordination, muscle weakness, and sensory loss. In some cases, individuals may also experience deformities in the feet or hands.

There are several different types of CMT, each caused by mutations in different genes. The SETX gene is one of the genes associated with CMT, specifically with a subtype called CMT2B2. Mutations in the SETX gene result in the production of a faulty protein that is involved in DNA repair and the unwinding of DNA.

Testing for the SETX gene mutation can be done through genetic testing, which involves analyzing a sample of the individual’s DNA. This can help provide a definitive diagnosis for individuals with symptoms of CMT2B2 and can also be used for carrier testing in families with a history of the condition.

In addition to CMT, mutations in the SETX gene have also been associated with other conditions such as ataxia with oculomotor apraxia, amyotrophic lateral sclerosis, and other neurodegenerative diseases. These related diseases may have overlapping symptoms with CMT and can complicate diagnosis and treatment.

For more information on Charcot-Marie-Tooth disease and related conditions, the Online Mendelian Inheritance in Man (OMIM) database and PubMed are excellent resources. They provide a catalog of scientific articles, genetic tests, and additional references on this topic.

Free resources for information on Charcot-Marie-Tooth disease:
Website Coordinating Center
OMIM Johns Hopkins University
PubMed U.S. National Library of Medicine
CMTA Patient Registry Charcot-Marie-Tooth Association

Other Names for This Gene

  • Ataxia, ocular apraxia, type 2 – SETX gene is also known as Ataxia, ocular apraxia, type 2.
  • Becherel type spinocerebellar ataxia – SETX gene is also referred to as Becherel type spinocerebellar ataxia.
  • AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 4 – This gene is associated with susceptibility to amyotrophic lateral sclerosis, specifically ALS4.
  • Charcot-Marie-Tooth Disease, type 2 – SETX gene is linked to Charcot-Marie-Tooth Disease, type 2.
  • Oculomotor Apraxia, Spinocerebellar Ataxia, And Axonal Neuropathy – This gene is associated with a condition involving oculomotor apraxia, spinocerebellar ataxia, and axonal neuropathy.

In addition to the above listed names, the SETX gene is also known by other names in scientific literature and genetic databases. These include:

  • Ataxia with oculomotor apraxia type 2 (AOA2) – The SETX gene is referred to as Ataxia with oculomotor apraxia type 2.
  • Cerebellar ataxia – This gene has been associated with cerebellar ataxia, a condition characterized by loss of coordination and neurodegeneration in the cerebellum.
  • Spinocerebellar ataxia type 4 (SCA4) – SETX gene is also linked to Spinocerebellar ataxia type 4.

For additional information on the SETX gene and related genes, you can refer to the following resources and databases:

  1. Online Mendelian Inheritance in Man (OMIM) – OMIM provides a comprehensive catalog of human genes and genetic diseases. The SETX gene can be found in the OMIM database.
  2. PubMed – PubMed is a popular online database of scientific articles. Searching for “SETX gene” or related terms will yield a wealth of research articles on this gene.
  3. GeneTests – GeneTests is a medical genetics testing resource. It provides information on genetic tests available for various conditions, including those related to the SETX gene.
  4. Genetic Testing Registry – The Genetic Testing Registry (GTR) is a centralized database of genetic tests. It contains information on available tests for the SETX gene and related conditions.

These resources can be helpful in understanding the role of the SETX gene in various diseases and conditions, as well as providing information on genetic testing options.

Additional Information Resources

Here is a list of additional resources that provide information and testing services related to the SETX gene and neurodegenerative diseases:

  • SETX Gene Testing: Genetic testing for mutations in the SETX gene can be done through various laboratories and genetic testing companies. Some of the laboratories that provide SETX gene testing include Becherel Scientific Testing (BST) and Genetic Testing Registry (GTR).
  • Related Genes and Diseases: There are other genes that have been associated with neurodegenerative diseases such as amyotrophic lateral sclerosis (ALS), oculomotor apraxia, and Charcot-Marie-Tooth disease. Information about these genes and diseases can be found in online databases like Online Mendelian Inheritance in Man (OMIM) and Genetic Testing Registry (GTR).
  • Articles and References: To learn more about the SETX gene and its involvement in neurodegeneration, you can refer to scientific articles and references. PubMed is a reliable source for accessing research articles on this topic.
  • Additional Information and Resources: Woods-Becherel website provides additional information about the SETX gene, its role in DNA unwinding and repair, and its connection to neurodegeneration. They also offer a free online registry where individuals with SETX gene mutations or related conditions can register.

Coordinating with these resources and organizations can provide valuable information and support for individuals and families affected by neurodegenerative diseases linked to the SETX gene.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides information about genetic tests for a variety of conditions, including ataxia, neurodegeneration, and other related diseases. The GTR catalogs the names, variants, and other testing information for the SETX gene and other genes associated with these conditions.

The SETX gene, also known as the Senataxin gene, is involved in DNA repair and transcriptional regulation. Variants in this gene have been linked to a number of diseases, including ataxia with oculomotor apraxia, Charcot-Marie-Tooth disease, and amyotrophic lateral sclerosis. The GTR lists tests that can detect changes in the SETX gene and provide valuable information for these conditions.

Additional genes related to these diseases, such as Becherel and Shaw genes, are also listed in the GTR. These genes play a role in DNA repair and other important cellular processes. Scientific articles and references related to these genes and diseases can be found in databases like PubMed and OMIM.

By providing access to this information, the GTR serves as a valuable resource for health professionals, researchers, and individuals seeking genetic testing. It allows them to find tests for specific conditions and genes, as well as additional resources for further exploration.

The GTR is free to use and provides a comprehensive listing of genetic tests available. It offers information on the variants, testing methodologies, and other relevant details for each test. Users can search the GTR by gene, condition, or test name to access the desired information.

Genes and Conditions Listed in the GTR

Gene Condition
SETX Ataxia with oculomotor apraxia
SETX Charcot-Marie-Tooth disease
SETX Amyotrophic lateral sclerosis
Becherel gene Neurodegeneration
Shaw gene Unwinding diseases

These are just a few examples of the genes and conditions listed in the GTR. Additional genes and diseases can be found by searching the registry. The GTR aims to provide a comprehensive and up-to-date resource for genetic testing information, helping to advance research and improve patient care.

See Also:  Spinocerebellar ataxia type 3

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to the SETX gene and its associated conditions. The SETX gene, also known as Senataxin, is involved in the repair and unwinding of DNA. Mutations in this gene can lead to various neurodegenerative disorders.

One example is Charcot-Marie-Tooth disease, which is a group of related genetic conditions that affect the peripheral nerves. Ataxia with oculomotor apraxia is another related condition caused by mutations in the SETX gene.

PubMed provides a catalog of scientific articles on various diseases and genes. It is a free resource that can be accessed by researchers, healthcare professionals, and the general public.

With PubMed, you can search for articles on specific topics, including genetic conditions associated with the SETX gene. The database contains articles from other resources, such as the Online Mendelian Inheritance in Man (OMIM) and the Genetic Testing Registry.

By searching PubMed, you can find articles that discuss the SETX gene and its role in neurodegeneration. These articles may provide additional information on the testing and diagnosis of related diseases, as well as potential treatments.

Here are a few examples of scientific articles that can be found on PubMed:

  • “SETX gene mutations in amyotrophic lateral sclerosis” – This article explores the role of SETX gene mutations in the development of amyotrophic lateral sclerosis (ALS), a progressive neurodegenerative disease.
  • “Characterization of SETX gene variants in patients with ataxia with oculomotor apraxia” – This study investigates the specific SETX gene variants associated with ataxia with oculomotor apraxia, a rare genetic disorder characterized by movement coordination issues.
  • “Genetic testing for SETX gene mutations in patients with Charcot-Marie-Tooth disease” – This article discusses the use of genetic testing to identify SETX gene mutations in individuals with Charcot-Marie-Tooth disease, a group of inherited peripheral neuropathies.

These are just a few examples of the scientific articles available on PubMed related to the SETX gene and its associated conditions. For more information and references, you can visit the PubMed website.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a catalog of genes and genetic diseases. It provides comprehensive information on various genes and associated diseases, allowing researchers and healthcare professionals to access essential resources for genetic testing, diagnosis, and treatment.

The SETX gene, also known as Senataxin, is one of the genes listed in the OMIM catalog. Mutations in the SETX gene are associated with Ataxia, Ataxia with Oculomotor Apraxia, Amyotrophic Lateral Sclerosis-4 (ALS4), and Charcot-Marie-Tooth disease, among others.

SETX plays a crucial role in DNA repair and is involved in unwinding DNA during transcription. Defects in this gene lead to various neurodegenerative disorders and coordination problems.

In addition to SETX, the OMIM catalog includes information on other genes related to neurodegeneration, genetic diseases, and various health conditions. By accessing OMIM, researchers and healthcare professionals can find the latest scientific articles, databases, and resources related to these genes and diseases.

OMIM also provides references to articles on PubMed, a renowned scientific database, to further explore the genetic changes and associated conditions. The catalog allows users to navigate through various diseases, genes, and variant names, providing a comprehensive overview of the genetic landscape.

For researchers and healthcare professionals, the OMIM catalog serves as a valuable tool for understanding the underlying genetic causes of diseases, exploring potential treatments, and facilitating genetic testing. It also aids in the creation of registries for specific conditions, allowing for better management and understanding of rare diseases.

In summary, the OMIM catalog acts as a centralized hub of information for genes and diseases. With its extensive collection of genes, diseases, and supporting resources, OMIM plays a key role in advancing genetic research, diagnosis, and treatment for various health conditions.

Gene and Variant Databases

Gene and variant databases provide valuable information and resources for studying and understanding genetic diseases such as Charcot-Marie-Tooth disease, amyotrophic lateral sclerosis, oculomotor apraxia, and other related neurodegenerative conditions. These databases catalog genes and their variants, as well as provide references to articles and other scientific literature related to these genes and their associated diseases. They are essential tools for researchers, clinicians, and individuals seeking information on genetic conditions.

One of the extensively used gene databases is the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides comprehensive information on genes, genetic mutations, and the diseases or conditions they are associated with. It includes detailed descriptions, clinical features, and references to relevant scientific articles on each gene and disease. Researchers and clinicians can easily access OMIM to gather information on the SETX gene and its associated diseases.

Another important resource is PubMed, a database of scientific literature. PubMed indexes articles from various journals and provides access to abstracts and full-text articles on a wide range of topics, including genes, genetic diseases, and variants. Users can search for specific keywords, such as “SETX gene” or “ataxia,” to find relevant articles and studies.

In addition to these general databases, there are gene-specific databases dedicated to specific genes or gene families. For example, the ATXN3 Gene Page is a database specifically focused on the ATXN3 gene, which is associated with Machado-Joseph disease or spinocerebellar ataxia type 3.

The Shaw Lab Database is another valuable resource for researchers studying neurodegenerative diseases. It provides information on various genes and their involvement in diseases such as amyotrophic lateral sclerosis and frontotemporal dementia. The database includes references to relevant articles, clinical descriptions, and gene-specific information.

Genetic testing laboratories also maintain their own databases, which contain variant information from tested individuals. These databases help coordinate variant interpretations and provide additional resources for the research community. Clinical laboratories often offer free access to these databases, allowing researchers and clinicians to access variant information to aid in their diagnosis and research.

In conclusion, gene and variant databases play a critical role in providing information and resources for studying and understanding genetic diseases. They catalog genes, variants, and associated diseases, and provide references to relevant scientific literature. Researchers, clinicians, and individuals seeking information on genetic conditions can rely on these databases to access valuable knowledge on the SETX gene and other genes of interest.

References

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