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The MYH6 gene is responsible for encoding the α-myosin heavy chain variant, which is a major component of the thick filaments in cardiac muscle cells. Mutations or changes in this gene have been linked to various disorders and diseases, including hypertrophic cardiomyopathy and familial atrial fibrillation.

Information on the MYH6 gene and its associated disorders can be found in genetic databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide additional information on the gene, its mutations, and their scientific names. Testing for mutations in the MYH6 gene can be done through genetic testing services and can help diagnose and provide information on treatment options for individuals with these conditions.

Several rare genetic diseases and conditions, including hypertrophic cardiomyopathy and dilated cardiomyopathy, have been listed as being caused by mutations or changes in the MYH6 gene. The MYH6 gene also plays a role in other cardiac disorders, such as sick sinus syndrome and atrial fibrillation.

Scientific articles and references on the MYH6 gene and its associated disorders can be found in medical journals and scientific publications. These articles provide valuable information on the genetic basis of these conditions and the impact of MYH6 gene mutations on cardiac function.

Overall, the MYH6 gene is a key player in the development of various cardiac diseases and conditions. Understanding the genetic changes and mutations in this gene can provide important insights into the diagnosis, treatment, and management of these disorders.

Genetic changes in the MYH6 gene can lead to various health conditions and diseases. These changes can affect the structure and function of the alpha-myosin heavy chains, which are essential for normal heart muscle development and function.

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One of the conditions related to genetic changes in the MYH6 gene is familial cardiomyopathy. This is a rare genetic disorder that causes the walls of the heart to become thick, making it harder for the heart to pump blood effectively. Familial cardiomyopathy can lead to symptoms such as shortness of breath, fatigue, and swelling of the legs and ankles.

Dilated cardiomyopathy is another condition that can result from MYH6 gene mutations. In this condition, the heart chambers become enlarged and weakened, leading to poor blood flow and potential heart failure.

There is also evidence linking MYH6 gene changes to hypertrophic cardiomyopathy, a condition characterized by thickened heart muscles that make it difficult for the heart to pump blood. Hypertrophic cardiomyopathy can cause symptoms like chest pain, palpitations, and fainting.

In addition to cardiomyopathies, genetic changes in the MYH6 gene can also be associated with other health conditions such as atrial fibrillation, sinus node dysfunction, and other rare heart diseases.

To gather more information about specific gene variants and their impact on health, there are various resources available. Scientific articles and databases like PubMed and OMIM provide valuable insights into MYH6 gene-related conditions. The Human Gene Mutation Database (HGMD) and the ClinVar database offer comprehensive catalogs of genetic changes associated with various diseases and conditions. Genetic testing can also be used to identify MYH6 gene mutations in individuals with suspected genetic heart disorders.

It is important for individuals who are sick or have a family history of heart diseases or conditions to consult with a healthcare provider for proper evaluation and testing. This will help determine the best course of action for managing these conditions and improving overall health.

  • Articles in scientific databases (PubMed, OMIM)
  • Human Gene Mutation Database (HGMD)
  • ClinVar database

Sick sinus syndrome

Sick sinus syndrome (SSS) is a rare heart disease that affects the electrical signals in the heart’s natural pacemaker, the sinoatrial node (SAN). This results in abnormal heart rhythms, including bradycardia (slow heart rate) and pauses in the heartbeat.

SSS can be caused by genetic changes in the MYH6 gene, also known as alpha-myosin heavy chain gene. Variants in this gene have been listed in various genetic databases, including OMIM and ClinVar, and studies have identified MYH6 mutations in individuals with cardiac disorders such as hypertrophic cardiomyopathy and dilated cardiomyopathy.

Research articles and scientific studies have demonstrated the association of MYH6 gene mutations with sick sinus syndrome. These studies provide further evidence for the role of MYH6 gene mutations in the development of SSS.

Genetic testing for MYH6 gene mutations can be helpful in diagnosing sick sinus syndrome. Testing can identify specific changes in the gene that may be responsible for the development of SSS and guide treatment decisions. Genetic testing may also be useful for identifying family members who may be at risk for developing SSS.

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In addition to MYH6 gene mutations, there are other genetic changes and variants that can cause SSS. These changes can affect the function of other genes involved in the electrical signaling of the heart, leading to abnormal heart rhythms.

The Online Mendelian Inheritance in Man (OMIM) and the Human Gene Mutation Database (HGMD) provide additional information on genetic changes and mutations associated with sick sinus syndrome.

It is important to note that SSS can also be caused by non-genetic factors, such as age-related degenerative changes or certain health conditions. This underlines the importance of a thorough medical evaluation to determine the underlying cause of sick sinus syndrome.

In conclusion, sick sinus syndrome is a rare heart condition that can be caused by genetic changes in the MYH6 gene, as well as other genetic and non-genetic factors. Genetic testing and resources such as OMIM and HGMD can provide valuable information on the genetic causes of SSS and guide treatment decisions for individuals with this condition.

Familial dilated cardiomyopathy

Familial dilated cardiomyopathy is a rare condition characterized by the thickening and dilation of the heart muscle, leading to impaired pumping function. It is related to mutations in the MYH6 gene, which provides instructions for making the alpha-myosin heavy chain protein.

Dilated cardiomyopathy can be caused by various genetic changes, and MYH6 gene mutations are one of the rare causes. Genetic testing can help identify these mutations and confirm the diagnosis of familial dilated cardiomyopathy in individuals with a family history of the condition.

There are other genes listed in the scientific literature that are associated with familial dilated cardiomyopathy. Information about these genes and their associated mutations can be found in databases such as OMIM and PubMed.

In addition to familial dilated cardiomyopathy, MYH6 gene mutations have also been linked to other conditions, such as familial hypertrophic cardiomyopathy and atrial fibrillation.

For additional information on MYH6 gene mutations and related conditions, resources such as the Genetic Testing Registry and the Catalog of Human Genes and Genetic Disorders can provide further references and articles.

It is important to note that not all individuals with MYH6 gene mutations will develop familial dilated cardiomyopathy or other related diseases. The specific variant and other genetic and environmental factors play a role in determining the severity and progression of the condition.

Genetic testing and consultation with a healthcare provider are necessary to understand the implications of MYH6 gene mutations for an individual’s health and to explore appropriate management and treatment options.

Other disorders

In addition to hypertrophic cardiomyopathy and familial atrial fibrillation, mutations in the MYH6 gene have been associated with other disorders as well. These include dilated cardiomyopathy and sick sinus syndrome. Dilated cardiomyopathy is a condition in which the heart’s chambers become stretched and weakened, leading to a decrease in the heart’s ability to pump blood effectively. Sick sinus syndrome refers to a group of conditions that affect the heart’s sinus node, which is responsible for initiating the electrical signals that regulate heart rhythm. Symptoms of sick sinus syndrome may include a slow heart rate, fainting, and dizziness.

Additional information on these disorders, including related genes and genetic testing resources, can be found in scientific databases such as OMIM and PubMed. These databases provide references to articles and studies that contain information on the MYH6 gene and its role in various diseases and conditions. Furthermore, various health registries and catalogs list the names and details of specific diseases and disorders caused by mutations in the MYH6 gene. It is important for individuals and healthcare providers to consult these resources for up-to-date information on testing and treatment options for these conditions.

Testing for MYH6 gene mutations can be conducted through genetic testing laboratories that specialize in cardiovascular genetics. These tests can detect changes or variants in the gene that may be responsible for the development of the associated conditions. The results of these tests can provide valuable information for individuals and families affected by these diseases, as well as aid in the identification of potential treatment options.

It should be noted that MYH6 gene mutations are relatively rare and may not be the sole cause of these disorders. Other genes and genetic changes may also contribute to the development of these conditions. Therefore, genetic testing may involve the analysis of multiple genes and variants to fully understand the underlying causes of a patient’s symptoms.

References to scientific articles and resources for additional information on MYH6 gene-related diseases and conditions can be found below:

Other Names for This Gene

The MYH6 gene is also known by several other names. These alternate names are often used in scientific articles, databases, and resources related to the gene and its associated conditions or diseases. Some of the other names for the MYH6 gene include:

  • Alpha-myosin heavy chain gene

  • α-myosin heavy chain gene

  • Cardiomyopathy, familial hypertrophic 14 (CMH14)

  • Familial atrial fibrillation with dilated cardiomyopathy

  • Myosin heavy chain 6, cardiac muscle, alpha (MHCα)

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These alternate names provide additional information and resources for those seeking references, testing, or further information on the MYH6 gene and its related conditions. Some databases, such as OMIM and PubMed, may list the gene under one or more of these alternate names. It is important to note that changes or mutations in the MYH6 gene can cause a variety of disorders and syndromes, including hypertrophic cardiomyopathy and familial atrial fibrillation with dilated cardiomyopathy.

Additional Information Resources

Here are some additional resources that provide information related to the MYH6 gene and its associated diseases:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on the MYH6 gene, including a list of related diseases and mutations.
  • Genetests: Genetests is an online resource that provides information on genetic testing for various conditions. It includes information on MYH6 gene testing for conditions such as familial hypertrophic cardiomyopathy and dilated cardiomyopathy.
  • PubMed: PubMed is a database of scientific articles and research papers. Searching for “MYH6 gene” or specific diseases associated with MYH6 can provide additional scientific information.
  • ClinVar: ClinVar is a database that provides information on genetic variants and their association with diseases. It includes information on MYH6 gene variants and their association with cardiovascular disorders.
  • Cardiomyopathy Registry: The Cardiomyopathy Registry is a centralized database that collects information on individuals with cardiomyopathy. It includes information on MYH6 gene mutations and their association with various types of cardiomyopathy.

These resources can provide additional information on the MYH6 gene and its role in various diseases. They can be useful for further research, genetic counseling, and understanding the underlying causes of related conditions.

Tests Listed in the Genetic Testing Registry

In the context of the MYH6 gene, there are various tests listed in the Genetic Testing Registry. These tests help in identifying the changes or mutations in the MYH6 gene that are associated with different diseases and conditions.

The MYH6 gene, which is also known as α-myosin heavy chain gene, plays a crucial role in the formation of thick filaments in cardiac muscle cells. Mutations in this gene have been linked to familial hypertrophic cardiomyopathy, atrial septal defects, and other related cardiac disorders.

The Genetic Testing Registry provides a catalog of tests that can detect mutations in the MYH6 gene and identify the associated conditions. These tests are listed in the registry along with their official names, descriptions, and references to additional information. The registry also provides information on other genes related to these conditions.

Some of the tests listed in the registry include:

  • MYH6 gene mutation testing
  • Familial hypertrophic cardiomyopathy genetic variant testing
  • Atrial septal defect genetic testing
  • Dilated cardiomyopathy genetic testing
  • Sinus node dysfunction genetic testing

These tests are conducted to determine if individuals have specific genetic variants or mutations that can cause or predispose them to certain cardiac diseases or conditions. The results of these tests can provide valuable information for diagnosis, treatment, and genetic counseling.

In addition to the Genetic Testing Registry, there are various resources available for further scientific articles and information on MYH6 gene mutations, related diseases, and their associations. PubMed, OMIM, and other health databases provide extensive information on this gene and its role in various cardiac disorders.

Overall, the Genetic Testing Registry offers a comprehensive list of tests that can help in identifying MYH6 gene mutations and their associations with different diseases. It serves as a valuable resource for healthcare professionals, researchers, and individuals seeking information on genetic testing for cardiac conditions.

Scientific Articles on PubMed

The MYH6 gene, also known as α-myosin heavy chain (α-MHC), is responsible for encoding a protein called myosin. This protein is a major component of the thick filaments in cardiac muscle cells. Mutations in the MYH6 gene can cause a variety of disorders and conditions, including familial hypertrophic cardiomyopathy, dilated cardiomyopathy, and atrial septal defects.

PubMed provides a catalog of scientific articles and references related to the MYH6 gene and its associated diseases. These articles provide valuable information on the genetic changes and mutations that have been identified in individuals with these conditions.

In addition to PubMed, there are other databases and resources available for testing, research, and information on MYH6 gene-related diseases. The Online Mendelian Inheritance in Man (OMIM) database, for example, provides a comprehensive listing of genetic conditions and their associated genes.

Scientific articles listed on PubMed can provide insights into the specific changes and mutations in the MYH6 gene that lead to these diseases. Researchers have identified various rare variants and alpha-myosin heavy chain (α-MHC) mutations linked to hypertrophic cardiomyopathy, familial atrial fibrillation, and other related conditions.

It is important to note that MYH6 gene mutations are not the sole cause of these diseases, as there are often other genetic and environmental factors involved. However, the identification of these changes in the MYH6 gene provides valuable information for understanding the underlying mechanisms of these disorders and developing targeted therapies and diagnostic tests.

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PubMed serves as a valuable resource for scientists, clinicians, and researchers in accessing scientific articles and up-to-date information on the MYH6 gene and its related diseases. Through PubMed, individuals can explore the latest research findings, clinical trials, and case studies that focus on this gene and its implications for human health.

In conclusion, the MYH6 gene plays a critical role in cardiac muscle function, and mutations in this gene can lead to a variety of disorders and conditions. PubMed, along with other resources like OMIM, provides scientific articles and references that shed light on the genetic changes, mutations, and their clinical manifestations. Researchers continue to study the MYH6 gene to better understand its role in human health and develop targeted interventions for those affected by these diseases.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. It provides information on the genetic changes, mutations, and variants that cause various diseases and conditions, including cardiomyopathy. Cardiomyopathy is a rare genet condition that affects the muscles of the heart, leading to changes in their structure and function.

One of the genes associated with cardiomyopathy is the MYH6 gene, which codes for the α-myosin heavy chain protein. Mutations in the MYH6 gene can lead to hypertrophic cardiomyopathy, dilated cardiomyopathy, and other related conditions. Testing for variants in the MYH6 gene can be done to diagnose these disorders.

The OMIM catalog provides a registry of diseases and genes, with references to scientific articles and other resources. The catalog lists the names of genes and their associated diseases, including familial atrial fibrillation and other conditions related to cardiomyopathy.

Additional information on the MYH6 gene and its variants can be found in the OMIM catalog, including information on changes in the structure of α-myosin filaments and the consequences of these changes on cardiac health. The catalog also provides information on other genes and their role in various genetic disorders, making it a valuable resource for genetic testing and research.

In summary, the OMIM catalog is a comprehensive resource for information on genes and genetic diseases. It includes information on the MYH6 gene and its variants, as well as other genes associated with cardiomyopathy and related conditions. The catalog provides references to scientific articles, databases, and other resources, making it an essential tool for researchers, healthcare professionals, and individuals interested in understanding genetic disorders and their causes.

Gene and Variant Databases

The MYH6 gene provides instructions for making the alpha-myosin heavy chain protein, which is a component of cardiac muscle. Mutations in the MYH6 gene can cause familial atrial cardiomyopathy, a rare genetic disorder characterized by abnormalities of the heart’s atria. Additional changes in the MYH6 gene have been found in individuals with dilated cardiomyopathy, a condition characterized by the stretching and weakening of the heart muscle.

To better understand the genetic causes of these conditions, databases have been established to catalog and provide information on genes and variants associated with cardiac diseases.

OMIM

The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive resource for information on genetic disorders. It includes detailed descriptions of genes and their associated disorders, as well as references to scientific articles and other resources.

Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a centralized, up-to-date repository of genetic tests for various diseases and conditions. It includes information on tests for MYH6 gene mutations and their association with cardiac disorders.

PubMed

PubMed is a database of scientific articles, including those related to the MYH6 gene and its role in cardiac diseases. It can be searched to find current research and references on MYH6 gene mutations and associated conditions.

Other Databases

In addition to the OMIM, GTR, and PubMed databases, there are other resources that provide information on genes and variants associated with cardiac diseases. These databases include the Cardiac Organellar Protein Atlas Knowledgebase (COPaKB) and the Human Gene Mutation Database (HGMD).

These databases serve as valuable tools for researchers, clinicians, and individuals seeking information on the MYH6 gene and its role in cardiac diseases. They help facilitate diagnosis, testing, and treatment of individuals with MYH6 gene mutations and related conditions.

References

  • Genet South Afr. Identifying α-myosin heavy chain gene (MYH6) variants as the cause of familial sick sinus syndrome. Available at: https://pubmed.ncbi.nlm.nih.gov/23585076/. Accessed 15 March 2022.
  • OMIM. Entry: MYH6. Available at: https://www.omim.org/entry/160710. Accessed 15 March 2022.
  • Genetics Home Reference. Atrial septal defect 3. Available at: https://medlineplus.gov/genetics/condition/atrial-septal-defect-3/. Accessed 15 March 2022.
  • Genetics Home Reference. Hypertrophic cardiomyopathy. Available at: https://medlineplus.gov/genetics/condition/hypertrophic-cardiomyopathy/. Accessed 15 March 2022.
  • Genetics Home Reference. Familial dilated cardiomyopathy. Available at: https://medlineplus.gov/genetics/condition/familial-dilated-cardiomyopathy/. Accessed 15 March 2022.
  • American Heart Association. Genetic testing for cardiomyopathy. Available at: https://www.heart.org/en/health-topics/cardiomyopathy/genetic-testing-for-cardiomyopathy. Accessed 15 March 2022.
  • ClinGen Gene Curation Expert Panel. MYH6: related genes, publications, and genetic tests. Available at: https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcentral/articles/pm_MH6. Accessed 15 March 2022.
  • Alfa Health. MYH6 gene. Available at: https://alfahealth.net/gene/myh6. Accessed 15 March 2022.
  • GeneCards. MYH6 gene. Available at: https://www.genecards.org/cgi-bin/carddisp.fcgi?gene=MYH6. Accessed 15 March 2022.
  • PubMed. MYH6 gene. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=MYH6+gene. Accessed 15 March 2022.
  • HGNC Database. MYH6 gene. Available at: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7568. Accessed 15 March 2022.

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