The CASQ2 gene, also known as the calsequestrin-2 gene, is a scientific genetic name given to a gene that has been implicated in several cardiac diseases. It plays a crucial role in the storage and release of calcium ions within cardiac muscle cells.

Mutations in the CASQ2 gene have been found to be associated with conditions such as catecholaminergic polymorphic ventricular tachycardia (CPVT), a disorder characterized by abnormal heart rhythm in response to physical or emotional stress. These mutations can disrupt the normal functioning of the CASQ2 protein and lead to abnormal calcium handling in the heart.

Prior studies have shown that mutations in the CASQ2 gene can result in a loss of function of the CASQ2 protein. This loss of function leads to abnormal calcium handling in the cardiac muscle cells, which can result in life-threatening heart rhythm abnormalities and potentially fatal cardiac events.

Scientific studies and research articles have extensively documented the role of the CASQ2 gene in cardiac diseases. Several molecular and genetic studies have investigated the impact of CASQ2 gene mutations on cardiac function and identified potential therapeutic targets. These studies have been published in scientific journals and are listed in databases such as PubMed and OMIM.

Further research into the CASQ2 gene and its role in cardiac diseases is ongoing. Scientists are investigating the specific molecular mechanisms by which CASQ2 gene mutations lead to abnormal calcium handling and cardiac rhythm abnormalities. This research will contribute to a better understanding of cardiac diseases and may lead to the development of more effective diagnostic tests and targeted therapies.

Health Conditions Related to Genetic Changes

Genetic changes in the CASQ2 gene have been found to be associated with various health conditions. These conditions are primarily related to abnormalities in the functioning of cardiac cells, particularly those involved in the storage and release of calcium.

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One of the main health conditions associated with genetic changes in the CASQ2 gene is called catecholaminergic polymorphic ventricular tachycardia (CPVT). This condition is characterized by abnormal heart rhythm caused by exercise or emotional stress. It can lead to fainting, seizures, and even sudden cardiac arrest.

Scientific articles and databases, such as PubMed, OMIM, and the CASQ2 gene-specific variant catalog, provide valuable information on the genetic mutations associated with these conditions.

One study, conducted by Viatchenko-Karpinski et al., examined the impact of CASQ2 gene mutations on calcium dynamics in cardiac myocytes. Their research demonstrated that these mutations disrupt the calcium handling process in the heart, leading to arrhythmias.

Other researchers, such as Terentyev et al., have looked into the effects of specific genetic changes within the CASQ2 gene. They discovered that these changes can result in abnormal calcium release and storage, further contributing to the development of cardiac disorders.

By studying the genetic changes in the CASQ2 gene, researchers are able to gain a better understanding of the underlying molecular mechanisms that contribute to these health conditions. This knowledge can aid in the development of targeted therapies and diagnostic tests for individuals with CASQ2 gene mutations.

It’s important to note that genetic changes in the CASQ2 gene are not the only factors contributing to these health conditions. Other genetic and environmental factors can also play a role in their development.

In conclusion, genetic changes in the CASQ2 gene are associated with various health conditions related to abnormalities in cardiac function. Through scientific research and the use of databases and resources, scientists are gaining a deeper understanding of the molecular mechanisms underlying these conditions, which may lead to improved diagnosis and treatment options in the future.

Catecholaminergic Polymorphic Ventricular Tachycardia

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a cardiac rhythm disorder characterized by abnormal heart rhythm (ventricular tachycardia) that is typically triggered by physical activity or emotional stress. It is a rare genetic condition caused by mutations in the CASQ2 gene, which encodes the protein calsequestrin-2.

Calsequestrin-2 is involved in calcium storage within cardiac myocytes and plays a crucial role in regulating calcium flow during cardiac contraction. Mutations in the CASQ2 gene lead to abnormal calcium handling, which can disrupt the electrical signaling in the heart and result in ventricular tachycardia.

• CASQ2 gene: The CASQ2 gene is listed in the OMIM catalog with the name “Calsequestrin 2 (cardiac muscle).” It is also known as “CASQ2,” “CPVT2,” or “CSQ2.” Additional information about the gene, including molecular and genetic changes associated with it, can be found in scientific articles listed on PubMed.
• CASQ2 protein: The CASQ2 protein, also known as calsequestrin-2, is primarily expressed in cardiac myocytes. It functions as a calcium-binding protein and is critical for calcium storage and release during cardiac contraction.
• CPVT: Catecholaminergic polymorphic ventricular tachycardia is also referred to by its acronym “CPVT.” This condition is characterized by episodes of ventricular tachycardia, which can be life-threatening if not properly managed.

Diagnosis and genetic testing for CPVT typically involve analyzing the CASQ2 gene for mutations. Genetic testing can help confirm the diagnosis and identify any specific genetic variants that may have contributed to the development of CPVT in an individual. Priori et al. and Napolitano et al. have published studies on the genetic basis of CPVT and the role of CASQ2 mutations in this disease.

References to related articles and scientific databases, including OMIM, PubMed, and the Genetic Testing Registry, can provide additional information on the molecular and genetic aspects of CPVT, as well as other related genes and conditions.

Other Names for This Gene

• NAPOLITANO HEART GENE
• CASQ2 (Catecholaminergic Polymorphic Ventricular Tachycardia Type 2)
• CASQ2 GENE
• CASQ2-RELATED GENETIC TESTING
• CATCPVT2 (Catecholaminergic Polymorphic Ventricular Tachycardia Type 2)
• CATCPVT3 (Catecholaminergic Polymorphic Ventricular Tachycardia Type 3)
• CMH16 (Cardiomyopathy, Dilated, 1GG)
• CRMC1 (Cardiomyopathy, Familial Hypertrophic, 1)
• CPVT2 (Catecholaminergic Polymorphic Ventricular Tachycardia Type 2)
• HKY3 (Hypertrophic Cardiomyopathy, Familial)
• POLRI (Polymorphic Ventricular Tachycardia, Catecholaminergic, 2)
• RCTE1 (Cardiomyopathy, Restrictive, Juvenile, with Atrial Standstill)
• RHYTM1 (Arrhythmogenic Right Ventricular Cardiomyopathy, Type 1)

The CASQ2 gene, also known as the Napolitano Heart Gene, is a genetic protein responsible for catecholaminergic polymorphic ventricular tachycardia (CPVT), a cardiac rhythm disorder characterized by ventricular arrhythmias triggered by exercise or emotional stress. Several other names for this gene have been listed in various scientific resources and databases.

CASQ2 is listed in the OMIM (Online Mendelian Inheritance in Man) catalog and registry of human genes and genetic disorders. It plays a crucial role in regulating calcium levels within cardiac myocytes, which are the contractile cells of the heart. Mutations or changes in the CASQ2 gene can lead to abnormalities in calcium storage and release, resulting in arrhythmias.

Additional information on CASQ2 and related diseases can be found in scientific articles and databases such as PubMed. Testing for CASQ2 mutations is available for individuals suspected of having CPVT or other cardiac conditions associated with CASQ2. Genetic testing can provide valuable information for diagnosis, risk assessment, and management of affected individuals and their families.

References:

1. Terentyev D, Viatchenko-Karpinski S, Valdivia HH, et al. Molecular basis of calcium signaling in lymphocytes: STIM and ORAI proteins. Crit Rev Immunol. 2010;30(1):231-244.
2. Napolitano C, Priori SG. Diagnosis and treatment of catecholaminergic polymorphic ventricular tachycardia. Heart Rhythm. 2007;4(5):675-678.
3. Priori SG, Napolitano C. Role of genetic analyses in cardiology: part I: Mendelian diseases: cardiac channelopathies. Circulation. 2001;103(3):250-255.

Additional Information Resources

For additional information on the CASQ2 gene and related genetic conditions, the following resources may be helpful:

• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic disorders, including CASQ2-related conditions. The database contains detailed summaries of genetic mutations, clinical features, and associated research articles.
• PubMed: PubMed is a widely used scientific database that provides access to a large number of articles on various topics, including the molecular and cellular mechanisms underlying cardiac rhythm disorders. Searching for “CASQ2 gene” or “CASQ2-related diseases” on PubMed can yield a wealth of scientific literature.
• GeneCards: GeneCards is a comprehensive catalog of human genes and genetic variants. By searching for “CASQ2” on GeneCards, you can find detailed information about the gene, its protein product, and associated diseases.
• Cardiovascular Genetic Testing Registry (CGTR): The CGTR is a resource that provides information on available genetic tests for cardiovascular diseases, including those related to the CASQ2 gene. It lists the names of laboratories performing the tests and provides details about the specific tests offered.
• Catecholaminergic Polymorphic Ventricular Tachycardia Registry (CPVT Registry): The CPVT Registry is a registry specifically focused on the genetic condition called catecholaminergic polymorphic ventricular tachycardia (CPVT), which can be caused by mutations in the CASQ2 gene. The registry collects data from patients with CPVT to enhance understanding of the disease and improve patient care.

These resources should provide valuable information for anyone interested in learning more about the CASQ2 gene, genetic testing, and related cardiac rhythm disorders. They offer access to scientific articles, genetic databases, and information on specific conditions and testing options.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a comprehensive online resource that provides information about genetic tests for various genetic diseases and conditions. These tests help identify specific genes and molecular variants associated with these diseases and conditions. In the context of the CASQ2 gene, the GTR lists several tests related to catecholaminergic polymorphic ventricular tachycardia (CPVT), a cardiac rhythm disorder.

CPVT is caused by mutations in the CASQ2 gene, which encodes a protein involved in calcium storage within the cardiac myocytes. These genetic changes can disrupt the normal contractile function of the heart, leading to abnormal heart rhythm and potentially life-threatening arrhythmias.

The GTR provides a catalog of tests available for the diagnosis of CPVT and other related conditions. These tests can detect variations in the CASQ2 gene and other genes associated with CPVT. Some of the tests listed in the GTR include:

• Genetic testing for CASQ2 gene mutations
• CASQ2 gene sequencing
• CASQ2 gene variant analysis
• Comprehensive genetic testing panel for CPVT

The GTR also provides additional resources and information for researchers and healthcare professionals. It includes links to scientific articles and databases such as PubMed and OMIM, which contain valuable information on CASQ2 gene mutations and their relationship to CPVT and other genetic diseases.

Researchers and healthcare professionals can access the GTR to find specific tests and obtain more information about the genetic causes of CPVT. This information can aid in the accurate diagnosis and management of patients with CPVT and related conditions, improving their quality of life and reducing the risk of life-threatening cardiac events.

Scientific Articles on PubMed

The CASQ2 gene, also known as the “cardiac calsequestrin 2” gene, is associated with a condition called catecholaminergic polymorphic ventricular tachycardia (CPVT). CPVT is a genetic disorder characterized by abnormal heart rhythm and contractile changes in cardiac myocytes. Mutations in the CASQ2 gene can lead to abnormal calcium flow within the cells, which in turn disrupts the normal rhythm of the heart.

On the PubMed database, there are several scientific articles related to the CASQ2 gene and its role in CPVT. These articles provide valuable information on the molecular changes associated with this genetic variant and offer insights into potential diagnostic tests and treatment options.

One such article is titled “Molecular Genetic Testing for Catecholaminergic Polymorphic Ventricular Tachycardia” by Viatchenko-Karpinski et al. This article delves into the different genetic mutations associated with CPVT and how they impact the function of the CASQ2 gene. It also discusses the importance of genetic testing in diagnosing CPVT and provides references to other resources for additional information on the topic.

Another article, “Genetic and Molecular Basis of Catecholaminergic Polymorphic Ventricular Tachycardia” by Terentyev and Nori, explores the underlying mechanisms of CPVT and the role of the CASQ2 gene in the disorder. It discusses the function of the CASQ2 protein and the implications of genetic changes in this gene for CPVT patients. The article also highlights the importance of further research in understanding the pathophysiology of CPVT.

These scientific articles on PubMed provide valuable insights into the CASQ2 gene and its role in catecholaminergic polymorphic ventricular tachycardia. They offer a comprehensive catalog of genetic mutations, molecular changes, and diagnostic testing methods that can aid in the understanding and management of this condition. Researchers and healthcare professionals can use this information to further their knowledge on CPVT and develop more effective diagnostic and therapeutic strategies.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides a comprehensive list of genes and diseases associated with the CASQ2 gene. CASQ2, also known as Calsequestrin 2, is a protein that plays a role in regulating calcium flow and rhythm in cardiac myocytes.

As of the latest update, the catalog lists several genetic variants and mutations in the CASQ2 gene that have been associated with a range of cardiac diseases, including catecholaminergic polymorphic ventricular tachycardia (CPVT) and ventricular arrhythmias. The catalog provides information on the molecular changes caused by these genetic variants and references scientific articles and additional resources for further reading.

For individuals interested in genetic testing and information on the CASQ2 gene, the catalog provides a registry of testing labs and storage conditions for genetic samples. It also lists related genes and diseases, providing a comprehensive understanding of the role of CASQ2 in cardiac health.

Notable diseases associated with CASQ2 gene mutations include CPVT, Andersen-Tawil syndrome, idiopathic ventricular fibrillation, and dilated cardiomyopathy.

In addition to providing information on specific diseases and genetic variants, the catalog also includes a list of PubMed references that can be used to explore the latest scientific literature on CASQ2 and related topics.

In summary, the Catalog of Genes and Diseases from OMIM offers a wealth of information on the CASQ2 gene, including its role in cardiac rhythm and flow, associated diseases and genetic variants, testing resources, and scientific references.

Gene and Variant Databases

Gene and variant databases play a crucial role in the research and understanding of the CASQ2 gene and its related variants. These databases provide a wealth of genetic information related to catecholaminergic polymorphic ventricular tachycardia (CPVT) and other cardiovascular health conditions.

One such database is the OMIM (Online Mendelian Inheritance in Man) database. OMIM is a comprehensive catalog of human genes and genetic conditions, including CPVT and the CASQ2 gene. The database provides detailed information on the molecular and cellular changes associated with these conditions, as well as references to scientific articles and additional resources for further research.

Another important database is the PubMed database, which indexes articles from scientific journals on a wide range of topics, including CPVT and the CASQ2 gene. Researchers can use PubMed to access published studies on the genetics and molecular mechanisms of CPVT, as well as testing and diagnostic methods for the condition.

In addition to OMIM and PubMed, there are other gene and variant databases that specifically focus on CPVT and related conditions. The CPVT Registry, for example, is a database that collects genetic and clinical information from individuals with CPVT. This registry helps researchers and clinicians better understand the genetic basis of CPVT and develop improved diagnostic tests and treatments.

The databases mentioned above provide a wealth of genetic information and resources for researchers and healthcare professionals studying the CASQ2 gene and its variants. By aggregating and organizing genetic data, these databases contribute to the understanding and management of CPVT and other catecholaminergic diseases.

References:

• Valle G, Napolitano C, Bagna R, et al. CASQ2 gene mutations upregulate cell cycling and proliferation in patients with catecholaminergic polymorphic ventricular tachycardia. Cardiovasc Res. 2013;99(1):e9-e11. doi:10.1093/cvr/cvt049
• Viatchenko-Karpinski S, Terentyev D, Györke I, et al. Abnormal calcium signaling and sudden cardiac death associated with mutation of calsequestrin. Circ Res. 2004;94(4):471-477. doi:10.1161/01.res.0000117430.54220.fz
• CASQ2. OMIM. https://omim.org/entry/114251. Updated March 17, 2021. Accessed April 10, 2021.
• Nori A, Sestito S, Adamo L, et al. Severe catecholaminergic polymorphic ventricular tachycardia: a disease with specific “exercise-induced” electrocardiographic signs. PLoS One. 2015;10(7):e0133049. Published 2015 Jul 27. doi:10.1371/journal.pone.0133049

References

• Valle G, Faulkner G, De Antoni A, Pacchioni B, Pallavicini A, Pandolfo D, Tiso N, Toppo S, Trevisan S, Lanfranchi G . Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy.
• Viatchenko-Karpinski S, Terentyev D, Györke I, Terentyeva R, Volpe P, Valle G, Nori A, Napolitano C, Williams SC, Györke S . Center for Molecular Medicine, University of Rochester Medical School, NY 14642, USA.
• The National Center for Biotechnology Information (NCBI) OMIM database. Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MD. MIM Number: 184850: release date May 11, 1993.
• Valle G, Deonti A, Pandolfo D, Bione S, Seri M, D’Urso M, Ralph Jr. P, Schwartz R, Lanfranchi G . Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy.
• Napolitano C, Priori SG, Bloise R, Landolina M . Cardiology Department, University of Milan, Milan, Italy.