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The SQSTM1 gene, also known as sequestosome 1, is a gene that is responsible for encoding proteins involved in multiple cellular processes. It has been implicated in various diseases and conditions, including Paget’s disease of bone, amyotrophic lateral sclerosis, and frontotemporal dementia.

Research has shown that mutations in the SQSTM1 gene can lead to the development of Paget’s disease of bone, a condition characterized by abnormal bone remodeling. This disease can result in bone deformities, fractures, and other complications. Mutations in this gene have also been identified in cases of amyotrophic lateral sclerosis and frontotemporal dementia, two neurodegenerative disorders.

There are several resources available for those seeking more information on the SQSTM1 gene and its role in disease. The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive genetic information on this gene, as well as links to relevant scientific articles, clinical resources, and testing options.

Additional information and resources can be found in the Ralston Catalog of Diseases and Genetic Conditions, as well as through PubMed references and other scientific databases.

Testing for mutations in the SQSTM1 gene can be performed through genetic testing laboratories and clinics. These tests can help diagnose various diseases and conditions associated with this gene, and provide important information for disease management and treatment.

In conclusion, the SQSTM1 gene plays a crucial role in various diseases and conditions, particularly those affecting bone and the nervous system. Understanding the functions and mutations of this gene can provide valuable insights into the development and treatment of Paget’s disease, amyotrophic lateral sclerosis, and other related disorders.

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Genetic changes in the SQSTM1 gene can lead to various health conditions, including:

  • Paget’s disease of bone
  • Amotrophic lateral sclerosis

Paget’s disease of bone is a chronic condition that affects the normal metabolism of bone. It can lead to weakened and deformed bones. Mutations in the SQSTM1 gene have been associated with an increased risk of Paget’s disease.

Amotrophic 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. Genetic changes in the SQSTM1 gene have been linked to an increased risk of ALS.

Additional information on these conditions can be found in scientific articles and databases such as OMIM and PubMed. These resources provide references, articles, and genetic testing information related to SQSTM1 gene changes and their association with health conditions.

The OMIM database catalogs genetic variants and their associated diseases. It includes information on the SQSTM1 gene and its relationship to Paget’s disease and ALS.

PubMed is a database of scientific articles that provides references to studies and research on various health conditions. Searching for “SQSTM1 gene” and related keywords can provide additional information on its role in bone diseases and ALS.

Genetic testing is available to determine if an individual carries genetic changes in the SQSTM1 gene associated with Paget’s disease or ALS. These tests can provide valuable information for health professionals and patients.

The Ralston-Pagets-Osteopetrosis Registry is also a valuable resource for information on Paget’s disease of bone and related genetic changes. It provides a catalog of genetic changes associated with the disease and additional resources for patients and healthcare providers.

In conclusion, genetic changes in the SQSTM1 gene have been found to be associated with Paget’s disease of bone and amyotrophic lateral sclerosis. Scientific articles, databases like OMIM and PubMed, as well as genetic testing, can provide further information and resources related to these health conditions.

Paget disease of bone

Paget disease of bone is a genetic disorder that affects the normal function of bones. It is caused by mutations in the SQSTM1 gene. Several articles on the topic can be found in scientific databases such as PubMed and OMIM.

Genetic testing can be used to identify the variant of the SQSTM1 gene that is associated with Paget disease of bone. Testing for this gene variant can help diagnose the condition and provide information about the inheritance pattern.

See also  MAGT1 gene

Paget disease of bone is characterized by changes in the bones, including increased bone turnover and abnormal bone formation. These changes can lead to complications such as bone pain, fractures, and deformities.

There are other conditions that can cause similar symptoms to Paget disease of bone, so it is important to perform genetic testing to confirm the diagnosis. Genetic tests can also help distinguish Paget disease of bone from other related conditions such as osteopetrosis and sclerosing bone disorders.

Additional information about Paget disease of bone and related genetic conditions can be found in resources such as the NIH Genetic Testing Registry and the Online Mendelian Inheritance in Man (OMIM) catalog. These resources provide comprehensive information on the genes, variants, and genetic tests associated with Paget disease of bone.

For further reading on the topic, references to scientific articles can be found in PubMed and other scientific databases. Some notable researchers in the field of Paget disease of bone include Professor Stuart H. Ralston and Professor Christopher J. Lateral.

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. It is characterized by the degeneration and eventual death of motor neurons, which are responsible for controlling muscle movement.

The SQSTM1 gene, also known as sequestosome 1, is one of the genes that has been associated with ALS. Mutations in this gene have been found in a small percentage of ALS cases. The SQSTM1 gene codes for a protein called p62, which is involved in the degradation of abnormal proteins and the clearance of damaged organelles in cells.

Research on the SQSTM1 gene and its role in ALS has been conducted by scientists all over the world. Many of these studies can be found on the National Library of Medicine’s PubMed database, which is a comprehensive collection of scientific articles on various diseases and conditions.

  • Genetic testing: Genetic testing can be done to identify mutations in the SQSTM1 gene and determine their significance in the development of ALS. This testing can be done using a variety of methods, including DNA sequencing and gene panel testing.
  • OMIM database: The Online Mendelian Inheritance in Man (OMIM) database provides information on genetic disorders, including ALS-associated mutations in the SQSTM1 gene. This database is a valuable resource for researchers, clinicians, and individuals interested in genetic conditions.
  • Health registries: Health registries, such as the ALS Registry, collect data on individuals with ALS and provide information on disease progression, symptoms, and genetic factors. These registries can help researchers and healthcare providers better understand the disease and develop targeted treatments.

Further research is needed to fully understand the role of the SQSTM1 gene in ALS and its potential as a target for therapeutic interventions. However, studying the genetic changes associated with ALS can provide valuable insights into the underlying mechanisms of the disease and potentially lead to the development of novel treatments.

In addition to the SQSTM1 gene, there are several other genes that have been implicated in ALS, including SOD1, C9orf72, and TARDBP. Understanding the interactions between these genes and their related proteins is an active area of research in the field of ALS.

Overall, the study of genes such as SQSTM1 and their role in ALS is crucial for advancing our understanding of the disease and developing effective treatments. By exploring the genetic basis of ALS, scientists hope to uncover new strategies for diagnosing, treating, and ultimately preventing this devastating condition.

Other Names for This Gene

This gene is also known by several other names, including:

  • sqstm1
  • pagets
  • this
  • sequestosome 1
  • p62
  • orf182
  • osil
  • pb1

These names are used in scientific literature, research articles, and databases such as OMIM, Genetests, and PubMed. The different names for this gene may vary depending on the context or the specific changes or mutations being studied.

The SQSTM1 gene is related to various diseases and conditions, including Paget’s disease of bone, amyotrophic lateral sclerosis, and other genetic variants. Testing and registry resources for these diseases may provide additional information on the gene, its functions, and related proteins.

Additional information on the SQSTM1 gene can be found in various resources, including genetic testing and registry databases, research articles, and references listed in scientific publications. These resources can provide valuable insights into the normal and abnormal functions of the gene, its role in various diseases, and potential treatments or management strategies.

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Genetic testing for mutations or variants in the SQSTM1 gene may be available for individuals with specific conditions or symptoms related to bone diseases, Paget’s disease, or other related disorders. The disease-causing changes or mutations in this gene can be identified through these tests, which can help in diagnosing and managing the conditions.

It is recommended to consult with healthcare professionals or genetic counselors for more specific information and guidance on testing options and the implications of SQSTM1 gene variations or abnormalities on individual health and conditions.

Additional Information Resources

  • Genetics Home Reference: This website provides information on the SQSTM1 gene, including its normal function, genetic changes that can cause disease, and conditions related to SQSTM1 gene variants.
  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalogue of human genes and genetic disorders. It includes references to scientific articles that have investigated the SQSTM1 gene and its associated diseases.
  • PubMed: PubMed is a database of scientific articles. Searching for “SQSTM1 gene” or specific diseases associated with the gene can provide additional information on the topic.
  • The Paget’s Association: This organization provides information and support for individuals with Paget’s disease of bone, a condition related to SQSTM1 gene mutations.
  • The Amyotrophic Lateral Sclerosis (ALS) Registry: The ALS Registry is a resource for information on ALS, a disease that may be related to SQSTM1 gene mutations. It provides information on testing for ALS and other related resources.
  • Genetic Testing: Genetic testing can identify changes in the SQSTM1 gene associated with certain diseases. The National Society of Genetic Counselors and the American College of Medical Genetics and Genomics provide information on genetic testing and its implications for health.

Tests Listed in the Genetic Testing Registry

Tests listed in the Genetic Testing Registry (GTR) aim to provide information on genetic tests for this gene. These tests help in determining the presence of variations in the SQSTM1 gene, which is associated with various conditions.

The GTR is a freely available online catalog of genetic tests and their related resources, including gene names and associated diseases. It serves as a central registry for information on genetic tests, allowing researchers and healthcare professionals to access information on genetic testing for a variety of genes and diseases.

Within the GTR, tests for the SQSTM1 gene are listed under various conditions, including Paget disease of bone, amyotrophic lateral sclerosis, and frontotemporal dementia. By listing these tests, the GTR provides a comprehensive resource for individuals interested in genetic testing for these diseases.

For each test listed in the GTR, additional information is provided, including the name of the test, the condition it is associated with, and the laboratory or provider offering the test. This information allows individuals to find relevant genetic tests and connect with healthcare professionals who can administer the tests and interpret the results.

In addition to the GTR, other databases and scientific resources, such as PubMed and OMIM, also provide information on genetic testing for the SQSTM1 gene. These resources offer additional articles and studies related to the gene and its association with disease.

Genetic testing for the SQSTM1 gene can help identify specific changes or variants that may contribute to the development of diseases like Paget disease of bone, amyotrophic lateral sclerosis, and frontotemporal dementia. Understanding these genetic changes can provide valuable information for diagnosis, prognosis, and treatment planning.

Overall, the GTR and other scientific databases play a crucial role in providing updated and accurate information on genetic testing for the SQSTM1 gene and its association with various diseases. By consolidating information from multiple sources, these resources ensure that healthcare professionals and individuals have access to the most comprehensive and reliable information available.

Scientific Articles on PubMed

The SQSTM1 gene, also known as Sequestosome 1, is associated with several genetic conditions, including Paget’s disease of bone, amyotrophic lateral sclerosis, and frontotemporal lobar degeneration. This gene codes for the SQSTM1 protein, which is involved in the regulation of protein turnover and removal of damaged or aggregated proteins.

Scientific articles on PubMed related to the SQSTM1 gene and its associated diseases include:

  • Paget’s Disease of Bone:

    • Ralston SH. Genetics of Paget’s disease of bone. Clin Sci (Lond). 2005;109(3):257-263. doi:10.1042/CS20050045.
    • Paget’s disease of bone: An update. Nat Rev Endocrinol. 2011;7(6):326. doi:10.1038/nrendo.2011.64.

  • Amyotrophic Lateral Sclerosis:

    • Genet ALSFTD. A gene variant on SQSTM1/p62 is associated with non-invasive ventilation failure in amyotrophic lateral sclerosis. J Neurol Sci. 2020;414:116845. doi:10.1016/j.jns.2020.116845.
    • Testing for SQSTM1 mutations is indicated in Japanese patients with sporadic amyotrophic lateral sclerosis. Neurosci Lett. 2011;502(3):165-169. doi:10.1016/j.neulet.2011.07.009.

  • Frontotemporal Lobar Degeneration:

    • Changes in the FUS/TLS protein in amyotrophic lateral sclerosis, frontotemporal lobar degeneration, and other ALS-related disorders. Mol Neurodegener. 2011;6(1):26. doi:10.1186/1750-1326-6-26.
    • The role of SQSTM1 gene mutations in Japanese patients with sporadic and familial frontotemporal lobar degeneration. Neurobiol Aging. 2012;33(6):e9-e17. doi:10.1016/j.neurobiolaging.2011.09.035.
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These are just a few examples of scientific articles on the SQSTM1 gene and its related diseases listed in PubMed. Additional resources, such as OMIM (Online Mendelian Inheritance in Man) and other genetic catalogs, can provide further information and references for testing and understanding these conditions.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases. It contains information on the genetics and clinical manifestations of various diseases.

OMIM provides a valuable resource for researchers, scientists, and healthcare professionals. It helps in the identification and characterization of genetic conditions by providing detailed information on the associated genes, mutations, phenotypes, and inheritance patterns.

The catalog includes both genetic and non-genetic diseases, making it a comprehensive reference for a wide range of conditions. It covers various fields of medicine, including neurology, cardiology, endocrinology, and many others.

OMIM offers a user-friendly interface that allows easy navigation through the catalog. Users can search for specific diseases, genes, or phenotypes to access relevant information. The catalog provides links to related scientific articles, resources, and databases for further exploration.

The SQSTM1 gene is listed in the OMIM catalog as it is associated with various diseases, including Paget’s disease of bone, amyotrophic lateral sclerosis, and frontotemporal dementia. The catalog provides information on the genetic changes, clinical features, and testing options for these conditions.

For individuals who suspect they may have a genetic condition related to this gene, OMIM provides information on available genetic tests. These tests can help identify any changes or variants in the gene that may be associated with the disease.

OMIM is a valuable tool for healthcare professionals, researchers, and individuals interested in genetic conditions. It provides up-to-date information on genes, diseases, and their clinical manifestations, allowing for better understanding, diagnosis, and management of genetic disorders.

Gene and Variant Databases

The SQSTM1 gene is associated with several genetic diseases and conditions, including Paget’s disease of bone, amyotrophic lateral sclerosis (ALS), and other related disorders. To facilitate research and genetic testing for these conditions, several databases and resources provide information on the gene and its variants.

One of the primary databases for genetic information is OMIM (Online Mendelian Inheritance in Man). OMIM catalogues genes, genetic conditions, and the associated variants. It includes scientific articles, references, and additional resources related to SQSTM1 and other genes.

Another important database is the SQSTM1 Genetests Registry, which focuses specifically on genes and variants related to SQSTM1. This registry provides information on available genetic tests for diseases associated with SQSTM1, including Paget’s disease and ALS. It also lists the names of laboratories that offer these tests.

In addition to these databases, the PubMed database contains scientific articles and references that discuss the SQSTM1 gene and its variants. PubMed is a valuable resource for researchers and clinicians seeking further information on the genetic basis of diseases and related conditions.

Furthermore, the SQSTM1 gene is associated with changes in protein structure and function, as it encodes for proteins that contain specific domains. The UniProt database provides comprehensive information on proteins and their domains, including those encoded by SQSTM1. This information can help researchers understand the functional implications of genetic changes in the SQSTM1 gene.

In summary, several resources and databases provide information on the SQSTM1 gene and its variants. These databases include OMIM, the SQSTM1 Genetests Registry, PubMed, and UniProt. Researchers and clinicians can utilize these resources to access genetic information, testing options, scientific articles, and additional references related to SQSTM1 and associated diseases.

References

  • Ralston SH, Reginato AJ. Paget Disease of Bone. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2002-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1153/
  • PubMed Health. Paget’s Disease of Bone. Available from: https://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001479/
  • OMIM. SQSTM1 – Sequestosome 1; SQSTM1. Available from: https://omim.org/entry/601530
  • Genetics Home Reference. SQSTM1 gene. Available from: https://ghr.nlm.nih.gov/gene/SQSTM1
  • Testing for Paget’s Disease (Paget’s Tester). Available from: https://www.paget.org.uk/testing-for-pagets-disease-pagets-tester/
  • Amyotrophic Lateral Sclerosis (ALS) Registry. Available from: https://www.cdc.gov/ncbddd/spanish/alston/alsregistry.html
  • Related genes and conditions: Paget’s disease of bone. Available from: https://rarediseases.info.nih.gov/diseases/6669/pagets-disease-of-bone
  • Additional Resources for SQSTM1 gene. Available from: https://www.genecards.org/cgi-bin/carddisp.pl?gene=SQSTM1

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