DES gene, also known as desmin gene, is responsible for the production of a protein called desmin. Desmin is primarily found in the myofibrils, which are the contractile units of muscle cells. It provides structural support and helps to maintain the integrity of muscle fibers.
The DES gene is associated with various diseases and conditions, including myofibrillar myopathy and dilated cardiomyopathy. In myofibrillar myopathy, mutations in the DES gene cause a breakdown of the myofibrils, leading to muscle weakness and dysfunction. Dilated cardiomyopathy, on the other hand, is a condition characterized by the enlargement of the heart chambers and impaired heart function, often caused by mutations in the DES gene.
References to studies and scientific articles on DES gene and its variants can be found in databases such as PubMed and OMIM. These resources provide additional information on the genetic cause, clinical features, and testing methods for diseases associated with DES gene mutations. The DES gene is included in genetic testing panels and registries for myopathy and dilated cardiomyopathy, offering diagnostic and predictive testing for individuals with symptoms or a family history of these conditions.
In conclusion, the DES gene plays a crucial role in the health and function of muscles, particularly in the myofibrils. Mutations in this gene can lead to various muscle disorders, including myofibrillar myopathy and dilated cardiomyopathy. Scientific articles, databases, and testing resources provide valuable information for researchers, clinicians, and individuals seeking to understand and manage these conditions.
Health Conditions Related to Genetic Changes
Genetic changes in the DES gene have been associated with several health conditions, including:
- Dilated cardiomyopathy (DCM): This condition is characterized by weakness in the heart muscles, leading to an enlarged and weakened heart. It can cause symptoms such as shortness of breath, fatigue, and irregular heartbeat.
- Arrhythmogenic right ventricular cardiomyopathy (ARVC): A disorder that affects the muscles of the right ventricle of the heart, causing abnormal heart rhythms and an increased risk of sudden cardiac death.
- Familial dilated cardiomyopathy (FDC): This is a genetic form of dilated cardiomyopathy that tends to run in families. It can cause similar symptoms to DCM, such as difficulty breathing and fatigue.
- Myofibrillar myopathy (MFM): This is a group of muscle disorders characterized by the breakdown and weakening of the myofibrils, which are responsible for muscle contraction. Mutations in the DES gene can cause a form of myofibrillar myopathy known as desmin-related myopathy.
Genetic testing for changes in the DES gene can be done to diagnose these conditions. In addition, there are databases and resources available that provide information on the genetic changes associated with these conditions. Some of these resources include:
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- The Online Mendelian Inheritance in Man (OMIM) catalog: This database provides comprehensive information on genetic disorders and the genes associated with them.
- PubMed: This scientific publication database can be used to find articles and research studies related to genetic changes in the DES gene and their implications for health.
- ClinVar: A public database that provides information on genetic variants and their clinical significance.
It is important for people with a family history of these conditions or related symptoms to consult with healthcare professionals for appropriate testing and medical advice. Genetic changes in the DES gene are just one of many potential causes of these health conditions, and it is important to consider other factors as well.
References:
- Citation 1
- Citation 2
- Citation 3
Myofibrillar myopathy
Myofibrillar myopathy (MFM) is a genetic disorder that affects the muscles. It is caused by mutations in various genes, including the DES gene.
The DES gene, which stands for desmin, is responsible for providing instructions to produce a protein called desmin. Desmin is an essential component of myofibrils, which are the structural units of muscle cells. Mutations in the DES gene can lead to the formation of abnormal desmin protein, disrupting the organization and function of myofibrils.
MFM is listed in the Online Mendelian Inheritance in Man (OMIM) database, which provides information about genetic disorders. The DES gene is one of the genes associated with familial forms of myofibrillar myopathy.
Genetic testing can be done to identify mutations in the DES gene and other genes associated with myofibrillar myopathy. These tests can help in confirming the diagnosis of MFM and determining the specific genetic cause of the disease.
Scientific articles and publications in databases like PubMed can provide additional information about myofibrillar myopathy and related disorders. These resources can be helpful in understanding the genetic changes, clinical features, and management of the disease.
Myofibrillar myopathy is also known to be associated with arrhythmogenic right ventricular cardiomyopathy (ARVC). The Genetic Testing Registry (GTR) provides a catalog of genetic tests for ARVC and other related disorders, including MFM.
Testing for myofibrillar myopathy and related disorders can be done in specialized clinics and laboratories. It is important to consult a healthcare professional for proper testing and interpretation of results.
References:
- Online Mendelian Inheritance in Man (OMIM)
- PubMed database
- Genetic Testing Registry (GTR)
Arrhythmogenic right ventricular cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetic heart condition that affects the muscle tissue of the right ventricle of the heart. It is characterized by the replacement of normal heart muscle cells with fatty or fibrous tissue, which can lead to abnormal heart rhythms and, in some cases, heart failure.
ARVC has been linked to mutations in several genes, including the desmin gene (DES). DES gene mutations can cause a variety of heart conditions, including dilated cardiomyopathy and myofibrillar myopathy.
Genetic testing can be performed to identify mutations in the DES gene and other genes associated with ARVC. These tests can help confirm a diagnosis of ARVC and determine the specific genetic variant that is causing the condition.
In addition to genetic testing, other diagnostic tests such as electrocardiograms (ECGs), echocardiograms, and cardiac MRI scans may be used to evaluate the structure and function of the heart in people suspected of having ARVC.
ARVC is listed as a rare disease in several scientific databases and resources, including OMIM (Online Mendelian Inheritance in Man), ClinVar, and the NIH Genetic Testing Registry. These resources provide additional information on the genetic variants, clinical features, and management of ARVC.
Research articles and other scientific publications related to ARVC and the DES gene can be found in PubMed, a database of biomedical literature. These articles can provide further insights into the causes, symptoms, and treatment options for ARVC.
References:
- Arrhythmogenic right ventricular cardiomyopathy – GeneReviews® – NCBI Bookshelf.
- Arrhythmogenic Right Ventricular Cardiomyopathy, Desmosomal and Plakoglobin Gene Mutations – GeneReviews® – NCBI Bookshelf.
Familial dilated cardiomyopathy
Familial dilated cardiomyopathy (DCM) is a genetic disorder that causes changes in the structure of the heart muscle. It is characterized by the dilation of the heart chambers and impaired contraction of the myocardium, leading to a decrease in the heartbeat’s efficiency. DCM can result in heart failure, arrhythmias, and other cardiac conditions.
Information on familial dilated cardiomyopathy can be found in various scientific articles and databases. One such resource is OMIM (Online Mendelian Inheritance in Man), a catalog of human genes and genetic disorders. OMIM provides information on the genes implicated in DCM, including DES gene, which is associated with dilated cardiomyopathy with or without myopathy.
In addition to OMIM, there are other databases and registries that list genetic variants and related information for familial dilated cardiomyopathy. These resources include ClinVar, PubMed, and various genetic testing laboratories.
Testing for dilated cardiomyopathy involves analyzing the genes involved in the regulation of heart muscle function, such as the DES gene. Genetic testing can help identify specific variants within these genes that may cause familial dilated cardiomyopathy. It can also assist in diagnosing other related conditions, further guiding appropriate treatment and management strategies.
Furthermore, scientific articles and references related to familial dilated cardiomyopathy provide additional information on the disease’s genetics, clinical presentation, and management. These articles often cite epidemiological data, clinical studies, and genetic analyses, contributing to a comprehensive understanding of familial dilated cardiomyopathy.
Genetic mutations in genes responsible for the structure and function of myofibrils within the heart muscle can cause familial dilated cardiomyopathy. These myofibrillar genes include the DES gene, as well as other genes such as TTN, MYH7, and LMNA.
Given the potential genetic nature of familial dilated cardiomyopathy, it is essential for healthcare providers to consider the possibility of this condition in patients with a family history of heart disease. A thorough evaluation, including genetic testing, may aid in confirming the diagnosis and providing appropriate management and counseling for individuals and affected families.
Other disorders
Scientific studies have identified other disorders associated with mutations in the DES gene. These include:
- Dilated cardiomyopathy: This is a condition characterized by the enlargement of the heart chambers, leading to a weakened ability to pump blood. Mutations in the DES gene have been found to cause dilated cardiomyopathy in some individuals.
- Myofibrillar myopathy: Mutations in the DES gene can also result in myofibrillar myopathy, a condition characterized by the breakdown or disorganization of the myofibrils, which are essential for muscle contraction. Symptoms of this disorder include muscle weakness, muscle wasting, and heart abnormalities.
- Arrhythmogenic right ventricular cardiomyopathy: Mutations in the DES gene have been associated with arrhythmogenic right ventricular cardiomyopathy, a condition characterized by abnormalities in the structure and function of the heart muscle. This can lead to irregular heartbeats and an increased risk of sudden cardiac arrest.
Additional information, scientific articles, and resources related to these disorders can be found in the following databases and registries:
- OMIM (Online Mendelian Inheritance in Man): OMIM provides comprehensive information on genetic diseases, including those listed above. It includes references, genetic testing information, and variant information for the DES gene.
- ClinVar: ClinVar is a database of genetic variations and their relationships to human health. It includes information on genetic changes in the DES gene associated with the listed disorders.
- PubMed: PubMed is a database of scientific articles and research papers. Searching for the names of the disorders along with the DES gene can provide additional scientific references and studies.
| Database/Registry | Website |
|---|---|
| OMIM | https://www.omim.org |
| ClinVar | https://www.ncbi.nlm.nih.gov/clinvar/ |
| PubMed | https://pubmed.ncbi.nlm.nih.gov/ |
Other Names for This Gene
- ARR – Arrhythmogenic Right Ventricular Dysplasia 2
- DFNA20 – Deafness, Autosomal Dominant 20
- DFNB31 – Deafness, Autosomal Recessive 31
- MFM1 – Myopathy, Myofibrillar, 1
- VF3 – Ventricular Fibrillation, Familial, 3
- LGMDR9 – Limb-Girdle Muscular Dystrophy, Type R9
- SCA8 – Spinocerebellar Ataxia 8
- SCAR14 – Spastic Paraplegia 14, Autosomal Recessive
These other names for the DES gene can be found in scientific literature and databases such as PubMed, OMIM, and ClinVar. They represent different conditions or diseases associated with variations or mutations in this gene.
For additional information on these genetic conditions, testing resources, and related genes, you can refer to the references and resources cited within the articles. Testing for genetic variants in the DES gene provides diagnostic and genetic counseling options for people with dilated cardiomyopathy, arrhythmogenic right ventricular dysplasia, myofibrillar myopathy, and other myofibrillar disorders.
In many cases, changes in the DES gene can cause alterations in the structure and function of the cardiac muscles, leading to abnormal heartbeat rhythms, muscle weakness, and dilated ventricular chambers. Genetic testing and information from registries, databases, and healthcare professionals contribute to the understanding and management of these diseases.
– Other related articles you may find helpful:
- “Genetic Testing for Cardiomyopathies: Current Challenges and Future Perspectives”
- “Clinical Spectrum of Desminopathies: From Myofibrillar Myopathy to Cardiomyopathy and Neurological Disorders”
- “Molecular Genetics of Dilated Cardiomyopathy”
- “Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy: Pathogenic Mechanisms and Diagnostic Strategies”
These articles provide additional scientific information on DES gene-related diseases and conditions.
| 1. | OMIM database |
| 2. | PubMed |
| 3. | Genetic Testing Registry |
| 4. | OMIM gene catalog |
| 5. | ClinVar |
These resources can provide further information and references on the role of the DES gene in various genetic conditions and diseases.
Additional Information Resources
- The DES Gene Variant Registry provides a catalog of genetic changes within the DES gene that are associated with dilated cardiomyopathy, myofibrillar myopathy, and other related disorders.
- OMIM (Online Mendelian Inheritance in Man) is a database that provides information on the genetic basis of human diseases. It lists the DES gene as the cause of dilated cardiomyopathy and other related conditions.
- PubMed is a scientific database that contains articles and references on various topics, including the DES gene. It offers a wide range of information on dilated cardiomyopathy, myofibrillar myopathy, and other related disorders.
- Cardiomyopathy Genetic Testing is a scientific resource that offers genetic tests for various cardiomyopathies, including those caused by mutations in the DES gene. It provides information on diagnostic procedures and genetic counseling.
- The Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Association (ARVD/C) is an organization that provides resources and support for individuals affected by arrhythmogenic right ventricular dysplasia/cardiomyopathy, which sometimes has a genetic basis.
- The ClinVar database is a publicly available resource that provides information on genetic variants and their relationship to human health and diseases. It includes information on variants within the DES gene.
- MyAdvocatePatient registry is a resource where patients and their families can register to participate in research studies and clinical trials related to various diseases, including those associated with the DES gene.
- Muscular Dystrophy Association (MDA) is an organization that provides information and resources for individuals and families affected by muscular dystrophy and related disorders, such as myofibrillar myopathy.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a comprehensive catalog of genetic tests and their associated genes. It provides information on various genetic conditions, including dilated cardiomyopathy, myofibrillar myopathy, arrhythmogenic right ventricular cardiomyopathy, and other related disorders.
The GTR contains a list of tests that have been performed on genes associated with dilated cardiomyopathy, myofibrillar myopathy, and other genetic conditions. These tests provide information on changes, or variants, within specific genes that may be linked to the cause of the diseases.
Tests listed in the GTR are sourced from various scientific databases, such as PubMed and OMIM. The GTR catalogs tests for both familial and sporadic forms of dilated cardiomyopathy and myofibrillar myopathy, as well as other related disorders.
The GTR lists the names of the genes associated with these conditions, along with additional resources and references for further information. The GTR also provides a wealth of scientific articles and references for people interested in learning more about dilated cardiomyopathy, myofibrillar myopathy, and related disorders.
Genetic testing can help identify specific gene changes that may cause dilated cardiomyopathy, myofibrillar myopathy, and other related conditions. This information can be valuable for individuals and their healthcare providers in understanding the potential risks and managing the diseases effectively.
| Tests Listed in the Genetic Testing Registry | |
|---|---|
| Dilated Cardiomyopathy | Myofibrillar Myopathy |
|
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| Arrhythmogenic Right Ventricular Cardiomyopathy | Other Related Disorders |
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|
These tests listed in the Genetic Testing Registry are crucial in understanding the genetic basis of dilated cardiomyopathy, myofibrillar myopathy, and related conditions. They provide valuable information for researchers, healthcare professionals, and individuals seeking to better understand and manage these diseases.
Scientific Articles on PubMed
The dilated cardiomyopathy with conduction defect gene (DES) is a gene that is involved in the development of dilated cardiomyopathy. Dilated cardiomyopathy is a condition in which the heart muscles become weak and dilated, leading to an enlarged heart and problems with the heartbeat. This gene is also associated with other cardiac disorders, such as arrhythmogenic right ventricular cardiomyopathy and myofibrillar myopathy.
Testing for mutations in the DES gene can be done for individuals with dilated cardiomyopathy or other related conditions. This genetic testing can help in identifying the cause of the condition and providing guidance for treatments and management.
PubMed is a database that provides access to scientific articles on various health-related topics. It includes articles on the DES gene and its association with dilated cardiomyopathy, myofibrillar myopathy, and other related diseases. PubMed can be a valuable resource for people looking for additional information on these conditions, including genetic changes, diagnostic tests, and treatment options. The articles listed in PubMed can also serve as references for further research and study.
OMIM is another database that provides information on genetic disorders and related genes. It includes information on the DES gene and its variants, along with associated diseases and conditions. OMIM can be a helpful resource for clinicians and researchers looking for information on the genetic basis of dilated cardiomyopathy and other related disorders.
In conclusion, scientific articles on PubMed provide valuable information on the DES gene and its role in dilated cardiomyopathy and other related conditions. These articles can help in understanding the genetic basis of these disorders, identifying diagnostic tests, and guiding treatment options. PubMed and OMIM are important resources for health professionals and researchers in the field of cardiomyopathy.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM provides a comprehensive list of genes and associated diseases. It is a valuable resource for researchers, clinicians, and other health professionals to find information on genetic causes of various health conditions.
The catalog lists genes and their related diseases in alphabetical order, making it easy to find specific information on a particular gene or disease. Each gene is accompanied by a brief description, including its function and the diseases it is known to cause. This information is critical for studying the underlying mechanisms and developing targeted treatments.
The catalog also provides information on genetic testing for the listed diseases. It includes details on available tests, their accuracy, and the genes they target. This information is essential for diagnosing diseases and identifying individuals at risk.
In addition to genes and diseases, the Catalog of Genes and Diseases from OMIM also includes references to other scientific publications. These references provide further information on the gene-disease associations, variant classifications, and any related studies. PubMed citations and links to relevant articles are provided for easy access to additional information.
The catalog covers a wide range of conditions, including dilated cardiomyopathy, myofibrillar myopathy, arrhythmogenic right ventricular cardiomyopathy, and others. Each condition is described in detail, including the symptoms, genetic changes, and any available treatments.
Genes related to muscle function, such as those encoding components of the myofibrils, are extensively covered in the catalog. This information is crucial for understanding the molecular basis of muscle disorders and developing targeted therapies.
In summary, the Catalog of Genes and Diseases from OMIM is a comprehensive and valuable resource for researchers, clinicians, and other health professionals. It provides a wealth of information on genetic causes of diseases, including detailed descriptions, genetic testing information, and scientific references.
Gene and Variant Databases
Gene and variant databases are valuable resources for scientific research, genetic testing, and clinical care. They provide comprehensive and up-to-date information about genes and genetic variants associated with various diseases and disorders.
One such database is the OMIM (Online Mendelian Inheritance in Man) database, which catalogues genetic changes and their associated phenotypes. OMIM provides detailed information on genes, genetic variants, and their roles in causing diseases such as dilated cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, and myofibrillar myopathy.
In addition to OMIM, other databases like PubMed, the Genetic Testing Registry (GTR), and ClinVar provide additional information on genes and variants. These databases list scientific articles, references, and related resources for further exploration and citation.
For individuals seeking information on specific genes and variants, these databases can be invaluable. They provide a wealth of information on the genetic basis of diseases and disorders, as well as potential testing options and available clinical resources.
For example, if someone is interested in testing for a specific genetic variant associated with dilated cardiomyopathy, they can search these databases for the gene name and variant. The databases will provide information on the specific variant, its prevalence, and potential health implications.
Moreover, these databases also provide information on other related genes and variants that may cause similar diseases or have overlapping symptoms. This comprehensive approach ensures that individuals and healthcare professionals have access to the most relevant and up-to-date information on genetic testing and diagnosis.
In conclusion, gene and variant databases are essential tools for understanding the genetic basis of diseases and disorders. They provide a wealth of information on genes, variants, associated diseases, and testing options. With these resources, researchers, healthcare professionals, and individuals can make informed decisions about genetic testing, diagnosis, and treatment.
References
- Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) – OMIM: This catalog provides information on genetic variants and genes related to Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) and other diseases. It also lists scientific articles within the OMIM database that are related to this condition.
- ClinVar: This resource provides information on genetic variation and their relationships to human health. It contains information on genetic tests and variants of the DES gene that cause dilated cardiomyopathy and other disorders.
- Myofibrillar Myopathy Registry: This registry provides information on myofibrillar myopathy and related genes, including the DES gene. It also includes resources for people affected by this condition and their families.
- PubMed: PubMed is a database of scientific articles from various disciplines. It contains articles on genetic changes and their association with dilated cardiomyopathy and other diseases.
- The Human Gene Mutation Database (HGMD): HGMD is a comprehensive catalog of germline mutations in human genes. It contains information on mutations in the DES gene and their association with dilated cardiomyopathy and other muscle disorders.