CACNA1S gene – Austra Health

The CACNA1S gene, also known as the L-type calcium channel alpha 1 subunit, is responsible for encoding a protein that forms calcium channels in skeletal muscles. These channels play a crucial role in muscle contraction and relaxation. Mutations in the CACNA1S gene have been identified as the cause of several diseases, including hypokalemic periodic paralysis and malignant hyperthermia. These conditions are characterized by altered calcium ion concentration-related muscle paralysis and altered reaction to anesthesia, respectively.

Research on the CACNA1S gene and its associated conditions has made significant advancements in recent years. The gene has been extensively studied and numerous scientific articles, references, and resources are available from databases such as PubMed, OMIM, and Genereviews. The Seattle Science Surgery Registry is a comprehensive catalog of genetic changes within the gene and provides additional information on related conditions.

Testing for mutations in the CACNA1S gene is available and recommended for people with symptoms or family history of hypokalemic periodic paralysis or malignant hyperthermia. These tests can provide crucial information for diagnosis and treatment. Genetic counseling and resources are also available for individuals and families affected by these conditions.

Health Conditions Related to Genetic Changes

Genetic changes in the CACNA1S gene have been linked to several health conditions. One of the most well-known disorders associated with mutations in this gene is hypokalemic periodic paralysis. In this condition, there are alterations in the L-type calcium channels within muscle cells, leading to episodes of muscle weakness or paralysis. These episodes are typically triggered by factors such as exercise, stress, or high carbohydrate meals, and they can last from minutes to hours.

Another related disorder is malignant hyperthermia. In this condition, the altered function of the CACNA1S gene leads to a potentially life-threatening reaction to certain anesthesia drugs. People with malignant hyperthermia may experience a rapid rise in body temperature, muscle rigidity, and other symptoms during or after surgery.

Genetic changes in the CACNA1S gene have also been associated with Central Core Disease, which is a disorder characterized by muscle weakness and a specific change in muscle fiber structure.

These are just a few examples of the health conditions related to changes in the CACNA1S gene. For additional information on these and other genetic diseases, you can refer to the OMIM database, the GeneReviews website, or the Genetic Testing Registry. These resources provide comprehensive information on the genetic changes, symptoms, testing options, and management of these conditions.

References:

OMIM: https://www.omim.org
GeneReviews: https://www.genereviews.org
Genetic Testing Registry: https://www.ncbi.nlm.nih.gov/gtr/
Seattle Children’s Hospital: https://www.seattlechildrens.org
PubMed: https://pubmed.ncbi.nlm.nih.gov/

Malignant hyperthermia

Malignant hyperthermia (MH) is a genetic disorder characterized by a hypermetabolic reaction to certain medications used during anesthesia or surgery. It is caused by mutations in the CACNA1S gene, which codes for a protein called the L-type calcium channel. These calcium channels are membrane-bound proteins that play a critical role in the function of muscle cells.

Individuals with MH have an altered structure or function of these calcium channels, which leads to an abnormal release of calcium from the sarcoplasmic reticulum, a specialized structure within muscle cells. This abnormal release of calcium triggers a series of reactions that result in muscle rigidity, increased metabolism, and a rise in body temperature.

MH is related to other genetic conditions, such as hypokalemic periodic paralysis, where changes in the same gene can cause a different set of symptoms. However, MH is specifically triggered by certain medications, while hypokalemic periodic paralysis is usually triggered by low blood potassium levels.

Diagnosis of MH can be confirmed through genetic testing, where mutations in the CACNA1S gene can be identified. Additionally, there are other tests available that can evaluate an individual’s susceptibility to MH, such as muscle contracture testing or the caffeine-halothane contracture test.

Treatment for MH involves immediate administration of medication to reverse the hypermetabolic reaction and prevent complications. The Malignant Hyperthermia Association of the United States (MHAUS), based in Seattle, provides resources and information for healthcare professionals and individuals affected by MH.

For additional information on malignant hyperthermia, you can refer to scientific articles on PubMed, or resources such as GeneReviews® and OMIM (Online Mendelian Inheritance in Man) databases, which list relevant articles and references relating to this condition.

References:
– GeneReviews®	– OMIM
– PubMed	– Malignant Hyperthermia Association of the United States (MHAUS)

Hypokalemic periodic paralysis

Hypokalemic periodic paralysis is a genetic disorder characterized by recurrent episodes of muscle paralysis and low levels of potassium in the blood.

This condition is caused by mutations in the CACNA1S gene, which provides instructions for making a protein called the alpha-1 subunit of the L-type voltage-gated calcium channel. These channels are found in the membrane of muscle cells and are involved in the control of muscle contraction and relaxation.

Individuals with hypokalemic periodic paralysis experience episodes of muscle weakness or paralysis that can last from a few hours to a few days. These episodes are often triggered by certain factors such as stress, carbohydrate-rich meals, physical activity, or cold temperatures.

During an episode, the affected muscles may become stiff or weak, and the potassium concentration in the blood may be lower than normal. This can lead to symptoms such as fatigue, muscle cramps, and difficulty moving.

Genetic testing for mutations in the CACNA1S gene can confirm the diagnosis of hypokalemic periodic paralysis. Additional testing may be performed to rule out other conditions with similar symptoms.

Treatment for hypokalemic periodic paralysis typically involves managing symptoms and preventing episodes. This may include dietary changes to ensure an adequate intake of potassium and other electrolytes, medication to regulate potassium levels, and avoiding triggers that can induce an episode.

Although hypokalemic periodic paralysis is a genetic disorder, it can occur as either an inherited condition or as a result of a new mutation in the CACNA1S gene. In inherited cases, the condition follows an autosomal dominant pattern of inheritance, meaning that one copy of the altered gene in each cell is sufficient to cause the disorder.

There are other conditions related to hypokalemic periodic paralysis, such as hyperkalemic periodic paralysis and thyrotoxic periodic paralysis, which have similar symptoms but are caused by mutations in different genes.

Other Names for This Gene

The CACNA1S gene is also known by several other names, including:

dihydropyridine receptor 1 alpha subunit
alpha-1S subunit
RYR3
hypokalemic periodic paralysis type 1
CCHL1

These alternative names for the CACNA1S gene have been identified based on its function, structure, and related diseases.

This gene codes for a protein that forms part of the L-type calcium channels in the membrane of muscle cells. Mutations in the CACNA1S gene can lead to altered function of these channels and result in conditions such as hypokalemic periodic paralysis and malignant hyperthermia.

Scientific databases and resources like OMIM, PubMed, and GeneReviewsR have listed various other names for this gene to facilitate easier identification and testing for related conditions.

Additional information on the CACNA1S gene can be found through various scientific databases and registries, such as the Seattle Children’s Hospital’s “GeneTests” and the Genetic and Rare Diseases Information Center (GARD).

For more detailed information on the genes, diseases, and conditions related to the CACNA1S gene, and to find references and scientific citations, it is recommended to consult these other resources.

Additional Information Resources

OMIM – Online Mendelian Inheritance in Man (OMIM) provides a comprehensive catalogue of genes associated with various diseases. The CACNA1S gene is listed under OMIM ID 114208.
GeneReviews® – GeneReviews® is a resource that provides up-to-date, expert-authored information about genetic disorders. The CACNA1S gene is covered in a GeneReview titled “Hypokalemic Periodic Paralysis with Malignant Hyperthermia”.
Pubmed – Pubmed is a database of scientific articles. Searching for “CACNA1S gene” on Pubmed will provide a wealth of scientific literature related to this gene and its function.
Seattle Children’s Hospital Research Institute – The Seattle Children’s Hospital Research Institute has a detailed webpage on the CACNA1S gene, including information on associated disorders, genetic testing, and research projects.
The Malignant Hyperthermia Association of the United States (MHAUS) – MHAUS is a registry and resource center for people affected by malignant hyperthermia and related conditions. They provide information on testing, treatment options, and support for individuals and families.
Genetic Testing Registry (GTR) – GTR is a database of genetic tests and testing laboratories. Searching for the CACNA1S gene in GTR will provide information on available tests and labs that offer testing for this gene.

It is important to note that the information provided in these resources may vary in terms of depth and accuracy. Always consult with healthcare professionals and genetic counselors for the most up-to-date and accurate information regarding the CACNA1S gene and associated conditions.

Tests Listed in the Genetic Testing Registry

The CACNA1S gene encodes a protein that forms one component of L-type voltage-gated calcium channels. These channels are critical for the proper function of muscles in the body. Variants in this gene have been identified in individuals with various conditions related to altered calcium channel function, including malignant hyperthermia susceptibility, hypokalemic periodic paralysis, and central core disease.

Genetic testing can help identify changes in the CACNA1S gene that may be responsible for these conditions. The Genetic Testing Registry (GTR), maintained by the National Institutes of Health, provides a catalog of genetic tests for a wide range of diseases and conditions. The GTR contains information on tests offered by laboratories and the names of the genes or genetic regions being tested.

Testing for variants in the CACNA1S gene can be useful for individuals with symptoms suggestive of these conditions or for family members of affected individuals. The results of genetic testing can provide additional information about the specific gene changes identified and their clinical significance.

In addition to the GTR, there are other resources available for information on genetic testing for the CACNA1S gene and related conditions. The OMIM database provides detailed information on genetic disorders, including the CACNA1S-associated conditions. The GeneReviews® website, run by the University of Washington and the Seattle Children’s Hospital, offers expert-authored, peer-reviewed articles on genetic diseases.

Scientific articles on the CACNA1S gene and its function can be found on PubMed. These articles provide information on the structure, function, and role of the protein encoded by the gene in muscle health.

Genetic testing for the CACNA1S gene and related genes can help in the diagnosis and management of conditions such as malignant hyperthermia susceptibility, hypokalemic periodic paralysis, and central core disease. It can also assist in providing information for individuals considering surgery or other procedures that may be affected by alterations in calcium channel function.

Scientific Articles on PubMed

The CACNA1S gene is a genetic information catalog that contains data from databases on various medical conditions and tests. It is mainly associated with hypokalemic periodic paralysis and malignant hyperthermia, although other conditions have also been identified.

In a study published in OMIM, researchers identified an altered variant of the L-type calcium channel gene, CACNA1S, in people with hypokalemic periodic paralysis. This mutation led to changes in the calcium channel’s structure and function, resulting in periodic paralysis symptoms.

The CACNA1S gene is also related to malignant hyperthermia, a potentially life-threatening reaction to certain anesthesia drugs. Several scientific articles listed in PubMed discuss the genetic testing and diagnosis of this condition, as well as the role of CACNA1S and other related genes.

In addition to hypokalemic periodic paralysis and malignant hyperthermia, the CACNA1S gene is associated with other conditions affecting muscles and calcium channels. Information about these diseases can be found within the OMIM registry, along with citation references to related scientific articles.

Various resources, such as Genereviews® and the Seattle Gene Testing Registry, provide additional information on the CACNA1S gene and its role in different health conditions. These resources offer comprehensive information on the gene’s structure, function, and the specific genetic changes that can lead to various diseases.

Further scientific research is needed to fully understand the mechanisms underlying the CACNA1S gene’s involvement in hypokalemic periodic paralysis, malignant hyperthermia, and other related conditions. However, the existing scientific articles on PubMed provide valuable insights into the genetic factors contributing to these disorders.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases. It provides information on various genetic conditions, including those related to the CACNA1S gene.

The CACNA1S gene encodes a protein that forms ion channels in cell membranes, particularly muscle cells. These channels are involved in the regulation of calcium concentration and play a crucial role in muscle contraction and relaxation.

Mutations in the CACNA1S gene can lead to various diseases, including malignant hyperthermia, hypokalemic periodic paralysis, and central core disease. These diseases are characterized by altered muscle function and can manifest as muscle weakness, paralysis, and in some cases, life-threatening reactions to certain drugs or surgery.

The OMIM catalog provides a wealth of information on the CACNA1S gene and its related diseases. It includes genetic and protein information, scientific references, and links to other databases and resources for further exploration.

OMIM provides detailed descriptions of the gene and disease, including mutation types and their effects on protein structure and function. It also contains information on genetic testing, genetic counseling, and resources for affected individuals and their families.

The catalog also includes articles and reviews from the scientific community that discuss the latest research findings and clinical implications of CACNA1S gene mutations. These resources provide valuable insights into the molecular and cellular mechanisms underlying the diseases associated with this gene.

For additional information on the CACNA1S gene and its related diseases, interested individuals can visit the OMIM website or access the gene-specific page on GeneReviews® by the University of Washington in Seattle. These resources offer an in-depth overview of the gene, its function, associated diseases, and management options.

In conclusion, the OMIM catalog is a valuable tool for researchers, healthcare professionals, and affected individuals seeking information on the CACNA1S gene and its related diseases. It offers a comprehensive overview of the genetic conditions associated with this gene, providing insights into the underlying mechanisms and potential treatment options.

Gene and Variant Databases

Gene and variant databases are important resources for researchers and healthcare professionals studying the CACNA1S gene and its associated variants. These databases contain information about the gene, its protein structure, and the various changes or mutations that have been identified.

One of the main databases used for this purpose is OMIM (Online Mendelian Inheritance in Man). OMIM is a comprehensive catalog of human genes and genetic disorders, and it provides detailed information on the CACNA1S gene, including its function and related diseases. It also lists the names and references of scientific articles and other resources that have studied the gene and its variants.

Another important database is the Genereviews® gene-specific database. Genereviews® provides in-depth, expert-authored information about genetic diseases, including those related to the CACNA1S gene. It includes information on the clinical features, diagnosis, testing, and management of these diseases.

The Seattle Children’s Hospital provides the Pediatric and Adult Thermoregulation Disorders Registry, which catalogs information on people with altered thermoregulation conditions. This registry includes individuals with hyperthermia and other related conditions caused by mutations in the CACNA1S gene and other genes related to calcium channels.

In addition to these databases, there are other resources available for accessing information on the CACNA1S gene and its variants. PubMed, a scientific citation database, contains numerous articles on the gene and its role in diseases such as hypokalemic periodic paralysis and malignant hyperthermia. Many of these articles provide detailed information on the genetic changes within the CACNA1S gene and their implications on protein structure and function.

Overall, gene and variant databases play a critical role in collating and disseminating important information on the CACNA1S gene and its associated variants. They provide a valuable resource for researchers, healthcare professionals, and individuals seeking information on genetic conditions related to this gene.

References

Gene: CACNA1S calcium voltage-gated channel subunit alpha1 S [ Homo sapiens (human) ]
This article on CACNA1S gene provides information on the genetic structure and function of this gene.
Scientific articles on the CACNA1S gene can be found on online databases such as PubMed.
The OMIM database catalogs information on genetic disorders related to the CACNA1S gene.
Genetic testing for mutations in the CACNA1S gene can help diagnose conditions such as hypokalemic periodic paralysis and malignant hyperthermia susceptibility.
Genetic testing resources for the CACNA1S gene can be found on the GeneReviews website.
The Seattle Structural Genomics Center for Infectious Disease has published research on the structure and function of CACNA1S protein.
Additional information on the CACNA1S gene can be found on the GenBank database.
The National Center for Biotechnology Information (NCBI) provides resources for studying the CACNA1S gene.
Gene variants within the CACNA1S gene have been identified and listed in mutation databases.
The altered calcium concentration in muscles, caused by changes in the CACNA1S gene, is associated with muscle paralysis.
Testing for CACNA1S gene mutations is recommended in individuals presenting with hypokalemic periodic paralysis or malignant hyperthermia susceptibility.
Other genes encoding L-type calcium channels, such as CACNA1C and CACNA1D, are also related to muscle function and disorders.