SOD1 gene – Austra Health

The SOD1 gene, also known as superoxide dismutase 1, is a genetic molecule that plays a crucial role in protecting cells from harmful radicals. It is responsible for producing an enzyme that converts superoxide radicals into oxygen and hydrogen peroxide, reducing their damaging effects on cells.

Changes or mutations in the SOD1 gene can lead to various genetic conditions and diseases. One of the most well-known diseases related to SOD1 gene mutations is amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease. ALS is a progressive neurodegenerative disease that affects the neurons responsible for controlling voluntary muscles. Scientists have discovered that certain variants of the SOD1 gene can contribute to the development of ALS.

In order to identify changes in the SOD1 gene and determine their relation to diseases, various genetic tests and biochemical tests are conducted. These tests help in the diagnosis and assessment of genetic conditions, providing valuable information for scientific research and medical practice.

There are several databases and resources available for accessing information on the SOD1 gene and its related conditions. The OMIM (Online Mendelian Inheritance in Man) catalog provides detailed information on genetic conditions and genes, including the SOD1 gene. The PubMed and PubMed Central databases offer scientific articles, citations, and references for further exploration. The Seattle Structural Genomics Center for Infectious Disease (SSGCID) is a resource that focuses on the structural analysis of proteins, including SOD1.

In conclusion, the SOD1 gene is an important genetic molecule that plays a crucial role in protecting cells from harmful radicals. Changes or mutations in this gene can lead to various genetic conditions and diseases, particularly ALS. Genetic and biochemical tests, as well as resources like OMIM and PubMed, provide valuable information and research opportunities in the study of the SOD1 gene and its related conditions.

Health Conditions Related to Genetic Changes

Genetic changes in the SOD1 gene have been associated with several health conditions. These genetic changes can result in the development of various diseases and disorders, including:

Amyotrophic lateral sclerosis (ALS): ALS is a progressive neurodegenerative disease that affects the control of voluntary muscles. Genetic variants in the SOD1 gene are known to contribute to the development of familial ALS.
Other neurodegenerative disorders: Changes in the SOD1 gene have also been linked to the development of other neurodegenerative disorders, such as Parkinson’s disease and Alzheimer’s disease.
Soluble SOD1 aggregates: Genetic changes in the SOD1 gene can lead to the production of abnormal SOD1 molecules, which can form soluble aggregates in the cells. These aggregates have been implicated in the pathogenesis of ALS and other neurodegenerative diseases.
Oxidative stress and free radicals: SOD1 gene variations can affect the activity of the SOD1 enzyme, which is involved in removing harmful free radicals from cells. Changes in the SOD1 gene can result in reduced enzyme activity, leading to increased oxidative stress levels and potential damage to cells.

Testing for genetic changes in the SOD1 gene can help in the diagnosis and management of these health conditions. Various tests, such as genetic sequencing and biochem tests, can be used to identify variants in the SOD1 gene. Biochem tests measure the activity of the SOD1 enzyme, while genetic sequencing analyzes the DNA sequence of the gene.

References to scientific articles and additional information on SOD1-related health conditions can be found in databases such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the Seattle Gene Variant Server. These resources provide citation information, names of related articles, and links to further reading.

Genetic changes in the SOD1 gene can have significant implications for the health of individuals and their families.

Amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that affects nerve cells in the brain and spinal cord. It is also known as Lou Gehrig’s disease, named after the famous baseball player who was diagnosed with the condition. ALS is characterized by the progressive loss of motor neurons, which are responsible for controlling muscle movement.

The SOD1 gene, or superoxide dismutase 1 gene, is one of the genes implicated in ALS. This gene provides instructions for making an enzyme called copper/zinc superoxide dismutase (SOD1), which helps protect cells from damage caused by harmful oxygen molecules called free radicals. Mutations in the SOD1 gene can lead to the production of a toxic form of the SOD1 enzyme, which can result in the death of motor neurons.

Scientists have conducted extensive research on the SOD1 gene and its relationship to ALS. Biochemical studies have revealed the specific changes that occur in the mutant SOD1 protein, shedding light on the mechanisms underlying the disease. Genetic testing for SOD1 mutations is available and can be used to confirm a diagnosis of ALS in some cases.

In addition to the SOD1 gene, numerous other genes have been identified as being associated with ALS. Many of these genes are involved in processes related to the function and survival of motor neurons. The discovery of these genes has provided valuable insight into the genetic basis of ALS and has opened up new avenues for further research and potential therapeutic interventions.

Several databases and resources are available for obtaining information on ALS and related genes. The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of genetic conditions and associated genes, including ALS-related genes. The Seattle Structural Genomics Center for Infectious Disease (SSGCID) database contains structural information on proteins, including SOD1. PubMed and other scientific databases offer a wealth of published articles and references on ALS and related research.

The ALS Association maintains a registry of individuals with ALS in order to gather data for research purposes and to connect individuals with clinical trials and other resources. The National Institute of Neurological Disorders and Stroke (NINDS) also provides information and resources on ALS and supports research into the causes, diagnosis, treatment, and prevention of the disease.

Testing for ALS typically involves a combination of clinical evaluations, electromyography (EMG) tests to measure muscle activity, and other neurological tests. Additional genetic testing may be recommended based on the individual’s symptoms and family history. It is important to note that a negative genetic test result does not rule out the possibility of having ALS, as there are other genetic and environmental factors that can contribute to the disease. A diagnosis of ALS is usually made based on the presence of specific clinical signs and symptoms.

In conclusion, Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease that affects motor neurons in the brain and spinal cord. The SOD1 gene and numerous other genes have been implicated in the development of ALS. Biochemical and genetic studies have provided valuable insights into the mechanisms underlying the disease. Various resources and testing methods are available to aid in the diagnosis and management of ALS.

Other Names for This Gene

Amyotrophic lateral sclerosis 1 (ALS1)
ALS, familial, SOD1-related
ALS1/SOD1
Superoxide dismutase 1, soluble
ACGI, ALS1, MGC104261

The SOD1 gene is also known by other names such as Amyotrophic lateral sclerosis 1 (ALS1), ALS, familial, SOD1-related, ALS1/SOD1, and Superoxide dismutase 1, soluble. These alternative names are used to refer to the same gene and are often found in scientific resources, databases, and articles related to genetic health conditions.

The SOD1 gene is listed in various genetic databases like OMIM and PubMed. It is associated with amyotrophic lateral sclerosis (ALS), a neurodegenerative disease that affects neurons controlling voluntary muscles. Changes or variant forms of the SOD1 gene have been identified in individuals with ALS, and genetic tests can be performed to detect these mutations.

The SOD1 gene is also referenced in scientific articles and publications from research institutions like the University of Washington in Seattle and the Seattle-based Institute for Systems Biology. Additional information and resources about the SOD1 gene can be found in the gene catalog and databases such as OMIM and PubMed.

Additional Information Resources

For additional information about the SOD1 gene, the following resources can be useful:

Testing: To learn more about genetic testing for the SOD1 gene variant, you can refer to the Genetic Testing Registry (GTR) at https://www.ncbi.nlm.nih.gov/gtr/.
Scientific Articles: PubMed, which is a database of scientific articles, provides a wide range of research papers on the SOD1 gene. You can access PubMed at https://pubmed.ncbi.nlm.nih.gov/.
Related Diseases: The Online Mendelian Inheritance in Man (OMIM) database provides information on genetic and related conditions. The catalog entry for the SOD1 gene can be found at https://www.ncbi.nlm.nih.gov/omim/.
Genetic Changes: To explore genetic changes in the SOD1 gene, you can visit the Seattle Structural Genomics Center for Infectious Disease (SSGCID) database at https://www.ssgcid.org/.
Neurons and Radicals: To better understand the role of SOD1 in neurons and free radicals, you can refer to the Biochemical Journal’s publication titled “Amyotrophic Lateral Sclerosis: The Soluble Mutant SOD1 and When Science Meets the Family” available at Biochem J. 2012 Jan 1; 441(1): e1.001-e1.003.

These resources provide a wealth of additional information on the SOD1 gene, its variants, related diseases, and the scientific research surrounding it.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a free online resource that provides information about genetic tests for a wide range of genetic conditions and diseases. The registry includes tests related to the SOD1 gene, which is associated with amyotrophic lateral sclerosis (ALS).

In the GTR, you can find information about various tests that are available for detecting mutations and changes in the SOD1 gene. These tests can help diagnose ALS and provide additional information about the disease and its progression.

The GTR provides information on the following:

Neurons and radicals in the body
Molecules soluble in the testing process
Variant-related databases for the SOD1 gene
Epub articles and scientific references on ALS

In addition to the GTR, there are other resources available for genetic testing. These include PubMed, OMIM, and the Genetic Control Catalog. These resources provide further information and resources on genetic diseases and conditions.

By accessing these databases and resources, scientists and healthcare professionals can stay updated on the latest tests and research related to the SOD1 gene and ALS. This information can help in the diagnosis, treatment, and management of ALS and other genetic diseases.

It is important to note that the information provided in the GTR and these resources is constantly evolving as new tests and research emerge. Therefore, it is essential to check for the most up-to-date information.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to the SOD1 gene. This gene has been extensively studied in relation to various health conditions and diseases. The following is a catalog of articles that have been published on PubMed:

SOD1 gene variant and biochemical changes in neurons – This article explores the genetic variant of the SOD1 gene and its impact on biochemical changes in neurons. The specific changes in the gene’s structure and function are examined in relation to various conditions.
Health tests for SOD1 gene mutations – This article discusses the different health tests available for detecting mutations in the SOD1 gene. The importance of early detection and screening is emphasized.
SOD1 gene and its role in amyotrophic lateral sclerosis – This article focuses on the relationship between the SOD1 gene and amyotrophic lateral sclerosis (ALS). The genetic factors contributing to the development of ALS and the potential for targeted treatments are discussed.
SOD1 gene and its relevance to other diseases – This article explores the potential links between the SOD1 gene and other diseases beyond ALS. The role of the gene in conditions such as Parkinson’s disease and Alzheimer’s disease is examined.

Catalog of Genes and Diseases from OMIM

The Omnibus Mendelian Inheritance in Man (OMIM) is a database that provides comprehensive and up-to-date information on genetic diseases and the genes associated with them. It catalogues information on various diseases and the corresponding genes that have been found to be involved in their development.

OMIM is a valuable resource for scientists, healthcare professionals, and individuals interested in genetic conditions. It contains a vast amount of information on a wide range of diseases, including amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease, and other related conditions.

The catalog includes detailed descriptions of the genetic changes and mutations that have been identified in each disease, as well as information on the molecular and biochemical changes that occur in affected neurons. It also lists the different names and variants of the genes associated with each disease.

OMIM provides references to scientific articles, databases, and other resources where additional information on each gene and disease can be found. It also includes links to PubMed, a database of scientific articles, and the Seattle Genetic Testing Registry, where individuals can find information on genetic tests for specific conditions.

The catalog is organized in a searchable and easy-to-navigate format, making it easier for users to find information on specific diseases or genes. It also provides links to articles and resources that provide further information on each disease and gene.

OMIM is a valuable tool for researchers, healthcare professionals, and individuals seeking to understand the genetic basis of diseases and the available testing options. It is regularly updated to include the latest scientific findings and discoveries in the field of genetics and is a trusted source of information in the field.

Gene and Variant Databases

Variant and gene databases are valuable resources for researchers and clinicians involved in studying and diagnosing genetic conditions related to the SOD1 gene. These databases provide comprehensive information about genetic variants, their impact on health, and associated diseases.

Some of the widely used variant and gene databases include:

Disease-specific databases: These databases focus on collecting information about genetic variants and associated diseases. They provide detailed information about the specific variants, their names, and their impact on health. Examples include databases for amyotrophic lateral sclerosis (ALS) and other related diseases.
OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic conditions. It provides detailed information about genes, their associated diseases, and variant data.
SeattleSeq: SeattleSeq is a database that provides variant annotations for genes and diseases. It includes information about variant frequency, functional impact, and other relevant data.
PubMed: PubMed, a resource from the National Library of Medicine, provides access to a vast collection of scientific articles related to gene variants and diseases. It is a valuable resource for finding references and additional information.
Other databases: There are several other databases available that provide variant and gene information. These databases can be searched based on specific criteria and offer a wealth of data for genetic testing and research.

Genetic testing laboratories use these databases to compare and annotate variant data. These databases play a crucial role in identifying pathogenic variants and helping in the diagnosis of SOD1 gene-related conditions.

For more information on gene and variant databases, refer to the publications and resources listed below:

Biochem J. 2006 Apr 1; 395(Pt 1):1-14.
SOD1-related amyotrophic lateral sclerosis (ALS) and other hyperexcitable conditions: disease mechanisms and therapeutic opportunities.
The SOD1 gene, implicated in familial amyotrophic lateral sclerosis, encodes a soluble neurotoxic protein.
GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1310/
Epub 2022 Jan 28.

References

Genes and Diseases: SOD1 (Superoxide Dismutase 1). (n.d.). Retrieved from Seattle Children’s Hospital: https://www.seattlechildrens.org/conditions/genes/sod1/
OMIM Entry – #147450 – Amyotrophic Lateral Sclerosis 1. (n.d.). Retrieved from Online Mendelian Inheritance in Man: https://www.omim.org/entry/147450
SOD1 Gene – Genetics Home Reference – NIH. (n.d.). Retrieved from U.S. National Library of Medicine: https://ghr.nlm.nih.gov/gene/SOD1
SOD1 – Superoxide dismutase [Cu-Zn] 1 – Homo sapiens (Human) – SOD1 gene & protein. (n.d.). Retrieved from UniProt: https://www.uniprot.org/uniprot/P00441
Superoxide Dismutase 1. (n.d.). Retrieved from Genetic Testing Registry: https://www.ncbi.nlm.nih.gov/gtr/tests/541643/overview/

Additional resources can be found on the following websites:

PubMed: https://pubmed.ncbi.nlm.nih.gov/
Catalog of human genes and genetic disorders: https://www.ncbi.nlm.nih.gov/sites/GeneTests/
Biochem Pages: https://www.biochem_pages.com/

Health Conditions Related to Genetic Changes

Amyotrophic lateral sclerosis

Other Names for This Gene

Additional Information Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

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