The RYR2 gene, also known as the Ryanodine receptor 2 gene, is a gene that encodes for the ryanodine receptor 2 protein. Mutations in this gene can lead to various diseases and conditions, including arrhythmogenic right ventricular cardiomyopathy, catecholaminergic polymorphic ventricular tachycardia, and familial atrial fibrillation.
The RYR2 gene is responsible for producing a protein that is involved in the regulation of calcium release from the sarcoplasmic reticulum in cardiac myocytes. Mutations in this gene can lead to abnormal calcium handling in the heart, which can result in abnormal heart rhythms and other conditions related to the heart’s electrical system.
Testing for mutations in the RYR2 gene can be done through genetic testing. Additional information about this gene and its associated conditions can be found in databases such as OMIM (Online Mendelian Inheritance in Man). Scientific articles and references on the RYR2 gene can also provide valuable information on the genetic changes and variants related to this gene.
Several other genes, such as the TISO gene, have been found to be associated with arrhythmias and cardiomyopathies. However, the RYR2 gene is one of the most common genes implicated in these conditions. It is important for individuals with a family history of arrhythmias or cardiomyopathies to undergo genetic testing to determine if they carry mutations in the RYR2 gene or other related genes.
Overall, the RYR2 gene plays a crucial role in the development and regulation of the heart’s electrical system. Mutations in this gene can lead to various diseases and conditions, and testing for these mutations can provide important information for diagnosis, treatment, and prevention. Resources such as PubMed and the Genetic Testing Registry provide additional information and resources for individuals interested in learning more about the RYR2 gene and its associated conditions.
Health Conditions Related to Genetic Changes
Genetic changes in the RYR2 gene can lead to various health conditions. The RYR2 gene, also known as the ryanodine receptor 2 gene, plays a crucial role in regulating calcium flow in cardiac myocytes.
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One of the conditions related to genetic changes in the RYR2 gene is arrhythmogenic right ventricular cardiomyopathy (ARVC). This condition causes abnormal changes in the structure and function of the heart’s right ventricle, leading to irregular heart rhythm and potentially life-threatening arrhythmias.
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is another health condition associated with RYR2 gene mutations. CPVT is characterized by episodes of ventricular tachycardia triggered by physical or emotional stress and can also be life-threatening.
Additional health conditions related to genetic changes in the RYR2 gene include familial atrial fibrillation, familial polymorphic ventricular tachycardia, and familial sudden death syndrome.
Testing for genetic changes in the RYR2 gene can be done through genetic testing and sequencing. Several databases and registries, such as OMIM and PubMed, provide scientific articles, references, and information on RYR2 gene mutations and related health conditions.
For individuals with a family history of these conditions, genetic testing can be beneficial in detecting the presence of RYR2 gene mutations and enabling appropriate medical management and preventive measures.
The RYR2 gene is just one of many genes that play a role in cardiac rhythm disorders and cardiomyopathies. Other genes involved in these conditions include SCN5A, KCNH2, and MYH7, among others.
It is important to note that genetic changes in the RYR2 gene alone may not always cause health conditions, and the presence of certain mutations does not necessarily guarantee the development of specific diseases. Genetic testing and consultation with healthcare professionals are crucial for accurate diagnosis and appropriate management of related health conditions.
Catecholaminergic polymorphic ventricular tachycardia
In the context of the RYR2 gene, catecholaminergic polymorphic ventricular tachycardia (CPVT) is a familial arrhythmogenic condition characterized by abnormal heart rhythm caused by exercise or emotional stress.
CPVT is caused by genetic changes in the RYR2 gene, which codes for a specific type of receptor in heart muscle cells known as ryanodine receptors. These receptors play a crucial role in regulating calcium release and uptake in the cardiac muscle, and any changes or mutations in the RYR2 gene can disrupt this process.
Individuals with CPVT may experience symptoms such as dizziness, fainting, and rapid, irregular heartbeats. These symptoms are often triggered by physical activity or emotional stress and can lead to potentially life-threatening ventricular fibrillation.
Diagnosis of CPVT typically involves a combination of clinical evaluation, including a detailed family history and electrocardiogram (ECG), as well as additional tests such as exercise stress testing and genetic testing. Genetic testing can identify specific changes in the RYR2 gene that are associated with CPVT and provide valuable information for further management and counseling.
For individuals diagnosed with CPVT or those at risk due to a family history of the condition, treatment options include medications such as beta-blockers and calcium channel blockers to control heart rhythm, as well as implantable cardioverter-defibrillators (ICDs) for those at higher risk of sudden cardiac arrest.
Familial and genetic testing is recommended for family members of individuals with CPVT to identify those at risk and provide appropriate counseling and preventive measures.
References and additional information on CPVT can be found in scientific databases such as PubMed, OMIM, and related literature. These resources catalog information on genes, diseases, and other conditions related to CPVT and provide valuable insights for research and clinical practice.
Arrhythmogenic right ventricular cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetic condition characterized by abnormal changes in the RYR2 gene. It is also known as familial right ventricular cardiomyopathy.
ARVC is a rare disease, but it can cause serious rhythm abnormalities in the heart. These abnormalities can lead to arrhythmias, such as ventricular tachycardia and atrial fibrillation. Patients with ARVC may also experience symptoms like palpitations, syncope, and sudden cardiac death.
The RYR2 gene provides instructions for making a receptor called the ryanodine receptor 2 (RYR2). This receptor is essential for controlling calcium release in cardiac myocytes. Mutations in the RYR2 gene can disrupt the normal function of these receptors, leading to calcium leak and abnormal heart rhythms.
There are several resources available for individuals and healthcare providers to learn more about ARVC and related conditions. Some of these resources include scientific articles, databases, and genetic testing companies. PubMed and OMIM are two examples of online databases that provide information on ARVC and other related conditions.
The ARVC Registry is a resource that collects information on individuals with ARVC. It is a valuable tool for researchers studying the condition and can help provide more understanding about the genetics and natural history of ARVC.
In addition, genetic testing is available to identify mutations in genes associated with ARVC. Some of the genes commonly tested for include RYR2, PKP2, DSG2, and DSP. These tests can help diagnose the condition and provide information for treatment and management.
It is important for individuals with ARVC and their families to seek genetic counseling and undergo regular cardiac monitoring. This can help prevent complications and better manage the condition.
References:
- Catalog of Genes and Diseases (genet.sickkids.on.ca)
- ARVC Registry (www.arvc.org)
- PubMed (www.ncbi.nlm.nih.gov/pubmed)
- OMIM (www.omim.org)
- Postma AV, et al. (2008). Genetically determined arrhythmogenic right ventricular dysplasia/cardiomyopathy: A review of genetics, clinical presentation, diagnosis, and therapy. Journal of the American College of Cardiology, 50(23), 2173-2182.
- Catecholaminergic polymorphic ventricular tachycardia (www.ncbi.nlm.nih.gov/books/NBK1289/)
Familial atrial fibrillation
Atrial fibrillation (AF) is a common cardiac rhythm disorder characterized by irregular, rapid heartbeats in the atria. It is estimated to affect millions of individuals worldwide. While the majority of cases are sporadic, there is evidence that a genetic component plays a role in the development of AF in some individuals.
One gene that has been implicated in the development of familial AF is the RYR2 gene. This gene encodes a protein called ryanodine receptor 2 (RYR2), which is involved in regulating calcium release in cardiac myocytes. Mutations in the RYR2 gene have been associated with a condition called catecholaminergic polymorphic ventricular tachycardia (CPVT), which is characterized by an abnormal heart rhythm that can be triggered by physical activity or emotional stress.
Familial AF is often associated with other cardiac conditions, such as cardiomyopathy. Napolitano et al. (2005) reported a familial case of AF associated with a variant in the RYR2 gene. Several scientific articles have also described families with AF and RYR2 mutations.
To date, several databases and registries have been developed to collect information on familial AF and related conditions. These include the Online Mendelian Inheritance in Man (OMIM) database, which provides information on genes and genetic conditions, and the Registry for Arrhythmogenic Right Ventricular Dysplasia (ARVD) and Dilated Cardiomyopathy (DCM), which lists genetic variants associated with these conditions.
In addition to RYR2, several other genes have been implicated in the development of familial AF. These include genes encoding ion channels and receptors involved in cardiac function, such as SCN5A, KCNH2, and GJA5. Mutations in these genes can lead to changes in the electrical properties of cardiac myocytes, which can predispose individuals to AF.
Genetic testing is available for familial AF and related conditions. This testing can help identify individuals at risk for developing AF and guide treatment decisions. It can also provide important information for family members who may be at risk for the condition.
References:
- Napolitano C, et al. (2005). Clinical utility gene card for: Catecholaminergic polymorphic ventricular tachycardia (CPVT). Eur J Hum Genet. 13: 698–699.
- Postma A, et al. (2005). Absence of calsequestrin 2 causes severe forms of catecholaminergic polymorphic ventricular tachycardia. Circ Res. 97: 480–482.
- Tiso N, et al. (2001). Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). Hum Mol Genet. 10: 189–194.
- Wilde AA, et al. (2003). Left cardiac sympathetic denervation for catecholaminergic polymorphic ventricular tachycardia. N Engl J Med. 348: 1795–1799.
Other Names for This Gene
The RYR2 gene is also known by several other names. These include:
- Catecholaminergic polymorphic ventricular tachycardia 1 (CPVT1)
- Arrhythmogenic right ventricular cardiomyopathy type 2 (ARVC2)
- Familial isolated arrhythmogenic ventricular cardiomyopathy, type 2 (FAMILIAL)
- Familial ventricular rhythm disorder, Right (VF1)
- Ventricular fibrillation, Right (VF1)
- Leak locus (ARRHYTHMO)
These names may be used in various sources, such as scientific articles, genetic testing catalogs, and disease registries. The RYR2 gene is associated with conditions related to cardiac rhythm, such as catecholaminergic polymorphic ventricular tachycardia and arrhythmogenic right ventricular cardiomyopathy.
For more information on the RYR2 gene and related conditions, you can refer to the following resources:
- OMIM (Online Mendelian Inheritance in Man) – OMIM provides information on genetic conditions and genes, including detailed descriptions and references to scientific literature.
- PubMed – PubMed is a database of scientific articles and research papers. Searching for “RYR2 gene” or the specific condition you are interested in can provide additional information.
- Tiso et al., 2001 – This article provides information on the RYR2 gene and its role in catecholaminergic polymorphic ventricular tachycardia.
- Napolitano et al., 2005 – This publication discusses the genetic basis of arrhythmogenic right ventricular cardiomyopathy and the involvement of the RYR2 gene.
These resources can help you learn more about the RYR2 gene, its variants, and the associated conditions. They may also provide information on genetic testing and other resources for managing and understanding these diseases.
Additional Information Resources
For additional information and resources related to the RYR2 gene and its association with cardiomyopathy, leaky channels, and other heart conditions, the following sources can be helpful:
- OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information about genes and their associated diseases. The entry for RYR2 gene (OMIM ID: 180902) contains detailed information about the genetic variants, mutations, and associated conditions.
- PubMed: PubMed is a database of scientific articles and publications. Searching for “RYR2 gene” or “RYR2 receptor” will provide a wealth of research articles and studies related to this gene and its involvement in cardiac rhythm disorders, arrhythmogenic ventricular cardiomyopathy, and other conditions.
- Genetic Testing and Registry: The Genetests database provides information about genetic testing laboratories offering tests for RYR2 gene mutations. The registry section also lists any existing patient registries for specific conditions associated with RYR2 gene mutations.
- Health Information Websites: Various health information websites, such as the National Institutes of Health (NIH) website or the American Heart Association website, may have articles and resources related to RYR2 gene mutations and their impact on heart health.
These resources can provide valuable information about the RYR2 gene, its variants, and their association with cardiomyopathy and other cardiac conditions. It is important to consult with healthcare professionals and genetic counselors for accurate diagnosis, testing, and treatment guidance.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) provides a catalog of tests for the RYR2 gene and other related conditions. These tests aim to identify mutations and changes in the RYR2 gene that are associated with various health conditions, particularly familial or single-gene forms of right ventricular cardiomyopathy.
Right ventricular cardiomyopathy is a condition characterized by changes in the structure and function of the heart’s chambers. It is often inherited in a familial pattern, meaning it runs in families. Mutations in the RYR2 gene, also called the ryanodine receptor 2 gene, are known to cause this condition.
The genetic tests listed in the GTR can assist in diagnosing right ventricular cardiomyopathy and related conditions. These tests can detect variant forms of the RYR2 gene and assess their potential impact on heart function. They can also help identify other genetic changes that may contribute to the development of the condition.
Some of the specific tests listed in the GTR include:
- TisoArrhythmogenic Catecholaminergic Polymorphic Ventricular Tachycardia RYR2 Gene Full Gene Sequencing Test
- OMIM 180902 RYR2-related right ventricular cardiomyopathy Test
- References Napolitano P et al. (2005) on testing for Arrhythmogenic Right Ventricular Cardiomyopathy
- References Wilde AA et al. (1995) on testing for Familial Atrial Fibrillation
These tests are conducted by specialized laboratories and are designed to provide scientific and clinical information for healthcare professionals and researchers. They utilize advanced genetic testing techniques to analyze the RYR2 gene and other related genetic markers.
In addition to the genetic testing resources provided by the GTR, there are other databases and articles available that offer further information on RYR2-related conditions. These resources can be valuable references for understanding the genetic basis of right ventricular cardiomyopathy and other related conditions.
Overall, the tests listed in the Genetic Testing Registry offer valuable insights into the genetic causes of right ventricular cardiomyopathy and provide essential information for diagnosis and management of this condition.
| Authors | Article |
|---|---|
| Postma AV et al. | Atrial fibrillation due to loss of function of the RYR2-encoded Ryanodine receptor in human atrial cells. |
| Napolitano C et al. | Mutations in the RyR2 gene associated with CPVT. |
Scientific Articles on PubMed
PubMed is a valuable resource for finding scientific articles related to the RYR2 gene. This gene, also called the Ryanodine Receptor 2 gene, is known to cause several health conditions involving the heart.
One of the conditions associated with mutations in the RYR2 gene is Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC), which is a rare genetic disorder affecting the right ventricle of the heart. Other conditions include Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) and Familial Atrial Fibrillation (FAF).
RYR2 gene encodes a protein that forms calcium release channels in cardiac myocytes called sarcoplasmic reticulum calcium release channels. These channels play a critical role in regulating the heartbeat.
On PubMed, there are several scientific articles listed that provide information about the RYR2 gene and its role in various heart conditions. Some of these articles discuss the genetic changes or mutations in RYR2 that can lead to the development of these conditions. Others focus on diagnostic tests and genetic testing for individuals with a suspected RYR2 gene variant.
For further information on the RYR2 gene and related conditions, resources like OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry can provide additional references and information. These databases contain a comprehensive catalog of scientific articles, resources, and references related to genes and genetic diseases.
Some notable articles include:
- Napolitano C et al. Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia. Circulation. 2001. PMID: 11581144.
- Wilde AA et al. The RYR2-encoded cardiac ryanodine receptor-calcium release channel: basic science, clinical complexity, and progress in understanding its role in inherited heart diseases. J Cardiovasc Electrophysiol. 2007. PMID: 16643308.
- Postma AV et al. QRS prolongation by a mutation in the cardiac ryanodine receptor gene associated with catecholaminergic polymorphic ventricular tachycardia. Heart Rhythm. 2005. PMID: 15851115.
These articles provide in-depth information on the RYR2 gene and its association with arrhythmogenic conditions. They also discuss the diagnostic tests and familial testing available for individuals with suspected RYR2 gene mutations.
In conclusion, PubMed is a valuable resource for finding scientific articles related to the RYR2 gene and its association with various heart conditions. These articles provide important insights into the genetic basis of arrhythmogenic disorders and offer valuable information for researchers, healthcare professionals, and individuals seeking more knowledge about these conditions.
Catalog of Genes and Diseases from OMIM
The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genes and diseases. One of the genes listed in this catalog is the RYR2 gene, which codes for the ryanodine receptor. RYR2 mutations have been found to be the cause of several conditions, including arrhythmogenic right ventricular cardiomyopathy, catecholaminergic polymorphic ventricular tachycardia, and familial arrhythmia.
The RYR2 gene encodes a calcium release channel in cardiac myocytes and is responsible for regulating calcium release from the sarcoplasmic reticulum. Mutations in this gene can lead to abnormal calcium handling and electrical dysfunction in the heart, resulting in various arrhythmias and cardiomyopathies.
OMIM provides additional information on the RYR2 gene, including information on related diseases, genetic changes associated with the gene, and scientific articles related to the gene.
Further research and testing are needed to fully understand the role of RYR2 mutations in these conditions. However, the information available in OMIM can be a valuable resource for researchers and healthcare professionals interested in studying or diagnosing these disorders.
For those interested in testing for RYR2 mutations or related conditions, OMIM provides a comprehensive list of resources, including genetic testing labs and registries for familial arrhythmias and cardiomyopathies.
References to scientific articles related to RYR2 and the associated conditions can also be found in OMIM. PubMed is a commonly referenced database that provides access to a large number of scientific articles and publications.
| Gene | Condition | OMIM Entry Number |
|---|---|---|
| RYR2 | Arrhythmogenic Right Ventricular Cardiomyopathy | OMIM #180902 |
| RYR2 | Catecholaminergic Polymorphic Ventricular Tachycardia | OMIM #604772 |
| RYR2 | Familial Arrhythmia | OMIM #604772 |
In conclusion, the OMIM database provides a catalog of genes and diseases, with the RYR2 gene being one of the listed genes. This gene is associated with various conditions, including arrhythmogenic right ventricular cardiomyopathy and catecholaminergic polymorphic ventricular tachycardia. OMIM offers valuable information and resources for researchers and healthcare professionals interested in understanding and diagnosing these conditions.
Gene and Variant Databases
Genetic research has identified numerous variants of RYR2 gene, which is responsible for encoding the ryanodine receptor 2 (RyR2) protein. These variants have been found to play a significant role in various familial genetic conditions, including catecholaminergic polymorphic ventricular tachycardia and arrhythmogenic right ventricular cardiomyopathy.
The characterization of these RYR2 mutations, coupled with the advancements in technology and our understanding of the genetic basis of diseases, has led to the development of several gene and variant databases.
These databases serve as valuable resources for researchers, geneticists, and healthcare professionals to access information on the RYR2 gene and its variants, aiding in the diagnosis and management of conditions associated with these genetic changes.
RYR2 Gene Databases
- Genetests: This database provides information on genetic tests for RYR2 gene mutations and related disorders, along with relevant clinical and scientific references.
- PubMed: The National Library of Medicine’s PubMed database contains a vast collection of scientific articles related to RYR2 gene mutations, allowing researchers to stay updated on the latest research and findings in the field.
- RYR2 Variant Database: This dedicated database focuses specifically on the cataloging and classification of RYR2 variants, providing detailed information on their clinical significance, pathogenicity, and association with various diseases.
- Registry of Genetically Triggered Arrhythmias: This registry collects and maintains clinical and genetic information on patients with rhythm disorders caused by RYR2 mutations, such as catecholaminergic polymorphic ventricular tachycardia and arrhythmogenic right ventricular cardiomyopathy.
Additional Resources
In addition to these databases, there are several other resources available for accessing information on the RYR2 gene and its variants:
- Health organization websites, such as the American Heart Association and the National Institutes of Health, provide educational materials and references related to RYR2 gene mutations and associated conditions.
- Scientific journals publishing articles on genetics and cardiovascular diseases may contain relevant research studies and findings related to the RYR2 gene.
- Genetic testing laboratories offer specific tests for RYR2 gene mutations, providing comprehensive information on an individual’s genetic profile in relation to cardiac conditions.
- Online forums and communities dedicated to familial conditions associated with RYR2 mutations can provide support, information, and experiences from individuals and families affected by these genetic changes.
By utilizing these gene and variant databases, along with the aforementioned resources, researchers and healthcare professionals can stay updated on the latest scientific discoveries, access comprehensive clinical information, and improve the diagnosis and management of conditions related to RYR2 gene mutations.
References
- Cardiomyopathy, dilated, 1DD; OMIM ID: 613172. https://www.omim.org/entry/613172
- Catecholaminergic polymorphic ventricular tachycardia; OMIM ID: 604772. https://www.omim.org/entry/604772
- Postma AV, Denjoy I, Hoorntje TM, et al. Absence of calsequestrin 2 causes severe forms of catecholaminergic polymorphic ventricular tachycardia. Circ Res. 2002;91(8):e21–e26. https://doi.org/10.1161/01.RES.0000038484.56729.8D
- Napolitano C, Priori SG, Bloise R. Catecholaminergic polymorphic ventricular tachycardia. GeneReviews®. 2000. https://www.ncbi.nlm.nih.gov/books/NBK1289/
- Wilde AAM, Bezzina CR. Genetics of cardiac arrhythmias. Heart. 2005;91:1352-1358. https://doi.org/10.1136/hrt.2004.057489
- Tiso N, Stephan DA, Nava A, et al. Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). Hum Mol Genet. 2001;10(3):189-194. https://doi.org/10.1093/hmg/10.3.189
- Genetics Home Reference. https://ghr.nlm.nih.gov/
- CardArrhythmiaCardiology H. https://cardiology.health/ryr2var/snp/rs386421267
