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The PRKAG2 gene is associated with a group of disorders known as glycogenosis. Additional conditions, such as Wolff-Parkinson-White syndrome, hypertrophic cardiomyopathy, and atrial fibrillation, have also been linked to mutations in this gene.

The PRKAG2 gene encodes a subunit of AMP-activated protein kinase (AMPK), an enzyme involved in cellular energy pathways. Mutations in this gene can cause dysregulation of AMPK activity, leading to various diseases and disorders.

OMIM, a catalog of human genes and genetic disorders, provides information about the PRKAG2 gene and its associated conditions. This resource suggests that mutations in the PRKAG2 gene may cause hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, and other heart-related diseases.

Scientific articles and other references on the PRKAG2 gene can be found in various databases and resources related to genetics and health. These resources offer a wealth of information on the PRKAG2 gene, including genetic testing options and information on related genes and mutations.

In conclusion, the PRKAG2 gene plays a significant role in various muscular and cardiovascular disorders. Mutations in this gene can lead to conditions such as hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, and atrial fibrillation. Understanding the genetic changes associated with the PRKAG2 gene and its related pathways is crucial for diagnosis, treatment, and research in these disorders.

Genetic changes in the PRKAG2 gene have been associated with various health conditions. These changes can cause hypertrophic cardiomyopathy, a disease that affects the muscles of the heart and leads to an abnormal thickening of the heart walls.

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The Online Mendelian Inheritance in Man (OMIM) provides information about these genetic changes and their associated health conditions. The OMIM catalog is a comprehensive database of genes and genetic conditions, and it offers detailed information about the PRKAG2 gene and its related conditions.

One of the health conditions related to the PRKAG2 gene is Wolff-Parkinson-White syndrome, a disorder that affects the electrical pathways of the heart. Mutations in the PRKAG2 gene can lead to abnormal electrical channels in the heart, which may cause atrial fibrillation and other heart rhythm disorders.

To diagnose these conditions, genetic testing is available. The OMIM database provides resources for testing laboratories and other genetic services. In addition, PubMed has articles and scientific references on PRKAG2 gene changes and related conditions.

Additional resources for information on the PRKAG2 gene, its genetic changes, and related health conditions can be found in databases such as the GeneReviews and the Human Gene Mutation Database (HGMD).

It is important to note that changes in the PRKAG2 gene may also be associated with other diseases and disorders, beyond those listed here. Genetic changes in this gene can affect the AMPK protein, which plays a role in various cellular pathways and processes.

Genetic changes in the PRKAG2 gene can lead to hypertrophy of the heart muscles, which causes an abnormal thickening. This, in turn, can lead to various health conditions and disorders.

Related Health Conditions and Disorders
Condition/Disorder OMIM ID
Hypertrophic Cardiomyopathy 192600
Wolff-Parkinson-White Syndrome 194200
Atrial Fibrillation 608583

It is suggested that individuals with a family history of these conditions or those who have symptoms associated with them should consider genetic testing for PRKAG2 gene changes.

In conclusion, genetic changes in the PRKAG2 gene are associated with various health conditions, including hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, and atrial fibrillation. The OMIM database and other genetic resources provide information and testing options for these conditions. Understanding the genetic changes in the PRKAG2 gene can lead to better diagnosis and management of these related conditions.

Wolff-Parkinson-White syndrome

Wolff-Parkinson-White syndrome (WPW) is a familial cardiac disorder characterized by intermittent ventricular pre-excitation, causing supraventricular tachycardia. It is named after the cardiologists Louis Wolff, John Parkinson, and Paul Dudley White, who first described the syndrome in the 1930s.

WPW is a variant of hypertrophic cardiomyopathy and is associated with mutations in the PRKAG2 gene. This gene encodes for the AMP-activated protein kinase (AMPK), which plays a crucial role in cellular energy homeostasis. Mutations in the PRKAG2 gene lead to changes in the AMPK pathways and result in the abnormal electrical conduction system in the heart, leading to the characteristic ECG findings of WPW syndrome.

The exact cause of WPW syndrome is not fully understood, but it is believed to be due to abnormal development of the heart’s electrical system during embryogenesis. Some studies suggest that mutations in genes other than PRKAG2 may also contribute to the development of WPW syndrome. Further research is needed to fully understand the genetic basis of this condition.

Diagnosis of WPW syndrome can be confirmed through various tests, including electrocardiogram (ECG) recordings, exercise stress tests, and electrophysiological studies. Genetic testing can also be performed to identify mutations in the PRKAG2 gene or other genes associated with WPW syndrome.

WPW syndrome is often associated with other cardiac disorders, such as Wolff-Parkinson-White with hypertrophic cardiomyopathy, glycogenosis type VIII (also known as PRKAG2 cardiac syndrome), and atrial fibrillation. It is important to accurately diagnose and manage these conditions as they can have significant implications for the patient’s long-term health.

See also  SCN8A gene

Further information about WPW syndrome, its causes, symptoms, and treatment options can be found in scientific articles, databases, and resources such as PubMed, OMIM, and Cardiol. These resources provide a catalog of articles and references about the syndrome, its associated genes, and related conditions.

Overall, the study of the PRKAG2 gene and its role in WPW syndrome has provided valuable insights into the genetics and molecular pathways underlying this condition. Additional research and genetic testing can help improve our understanding of WPW syndrome and facilitate the development of targeted therapies for affected individuals.

Familial atrial fibrillation

Fibrillation refers to the abnormal and rapid beating of the heart muscles, specifically in the atria. Familial atrial fibrillation is a condition that is inherited and occurs in families.

Recent research and studies have suggested that mutations in the PRKAG2 gene may be associated with familial atrial fibrillation. The PRKAG2 gene is responsible for coding a protein that plays a role in regulating energy metabolism in heart muscles.

In addition to the PRKAG2 gene, other genes have also been implicated in familial atrial fibrillation. These genes are involved in various pathways related to the electrical conduction system of the heart and the contraction of heart muscles. Some of these genes include WOLFF-PARKINSON-WHITE SYNDROME, AMPK, and adenosine receptors.

The presence of mutations in these genes can lead to abnormal functioning of the channels and receptors involved in the electrical signaling of the heart, ultimately leading to the development of atrial fibrillation.

Understanding the genetic basis of familial atrial fibrillation can provide important information for the diagnosis and treatment of the condition. Genetic tests can be used to identify mutations in the PRKAG2 gene and other associated genes.

It is worth noting that familial atrial fibrillation is often associated with other heart conditions, such as hypertrophic cardiomyopathy and glycogen storage disease. Therefore, genetic testing can also help identify individuals at risk for these conditions.

The Familial Atrial Fibrillation Registry provides additional resources and information about familial atrial fibrillation and related genetic disorders. Scientific articles and databases, such as PubMed, can also be consulted for further information on this topic.

In conclusion, familial atrial fibrillation is a genetic condition that is inherited in families. Mutations in genes such as PRKAG2, WOLFF-PARKINSON-WHITE SYNDROME, and AMPK have been implicated in the development of this condition. Genetic testing can provide important information for diagnosis and treatment. Other associated heart conditions, such as hypertrophic cardiomyopathy and glycogen storage disease, should also be considered in individuals with familial atrial fibrillation.

Familial hypertrophic cardiomyopathy

Familial hypertrophic cardiomyopathy (HCM) is a genetic disorder characterized by thickening of the heart muscles, leading to impaired heart function. It is caused by mutations in the PRKAG2 gene, which encodes the protein AMP-activated protein kinase (AMPK).

Omim provides extensive resources for cardiology-related disorders and diseases. Within their catalog, you can find information about HCM and other conditions associated with hypertrophy and glycogenosis. The Pubmed database also offers scientific articles and references related to this condition.

Testing for HCM and related conditions can be done through genetic testing, electrocardiogram, echocardiography, and other diagnostic procedures. Additionally, the presence of symptoms such as ventricular hypertrophy or Wolff-Parkinson-White syndrome may suggest the need for further testing.

Understanding the cellular and molecular pathways affected by PRKAG2 mutations is crucial for diagnosing and treating familial HCM. The AMPK protein plays a key role in regulating energy metabolism within the heart muscles. Any changes or disruptions in this system can lead to cardiac hypertrophy and other cardiovascular disorders.

Genetics and family history play a significant role in the development of familial HCM. Identifying the specific variant of the PRKAG2 gene and other genes involved in the disease can provide additional insight into the causes and mechanisms of this condition.

Health professionals and researchers can find comprehensive information about familial HCM and related disorders from reputable sources like Omim, Pubmed, and scientific articles. These resources offer a wealth of knowledge on the genetics, symptoms, and treatment options for this condition.

Further studies and research are necessary to better understand the role of PRKAG2 mutations and their impact on the development of HCM. This knowledge can help inform treatment strategies and improve outcomes for individuals with familial HCM.

Other disorders

PRKAG2 gene mutations are related to various other disorders and conditions. Here is some information about them:

  • Cardiomyopathy: PRKAG2 mutations can lead to cardiomyopathy, a group of diseases that affect the heart muscles.
  • Hypertrophic cardiomyopathy: Mutations in the PRKAG2 gene can cause hypertrophic cardiomyopathy, a condition characterized by an abnormal thickening of the heart muscles.
  • Wolff-Parkinson-White syndrome: PRKAG2 gene mutations may be associated with Wolff-Parkinson-White syndrome, a condition that affects the electrical system of the heart and can cause rapid heart rates and other cardiac symptoms.
  • Glycogenosis: PRKAG2 mutations have been linked to glycogenosis, a rare genetic disorder that affects the body’s ability to break down glycogen. This can lead to various health problems.
  • Atrial fibrillation: Mutations in the PRKAG2 gene may increase the risk of atrial fibrillation, an irregular and often rapid heart rate that can lead to complications.
  • Familial ventricular hypertrophy: PRKAG2 gene mutations can contribute to familial ventricular hypertrophy, a condition characterized by an enlargement or thickening of the ventricles of the heart.

For more information about these conditions and other disorders related to the PRKAG2 gene, you can refer to the following resources:

  1. OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about genetic disorders.
  2. PubMed: This scientific database contains numerous articles and references on various health conditions and genetics.
  3. Genetic testing: Testing for PRKAG2 gene mutations may be available through genetic testing laboratories and clinics.
  4. Genetic registries and databases: Certain registries and databases collect information on specific genetic disorders and provide support and resources to affected individuals and families.
See also  Waardenburg syndrome

It is important to consult with healthcare professionals and genetic specialists for accurate diagnosis, testing, and management of these disorders.

Other Names for This Gene

The PRKAG2 gene is also known by several other names, including:

  • AMP-activated protein kinase subunit gamma-2
  • AMPKgamma2
  • PRKAG2-AS1
  • Glycogen storage disease of heart, lethal congenital
  • Cardiomyopathy, familial hypertrophic, 6
  • Wolff-Parkinson-White syndrome, PRKAG2-related
  • Atrial fibrillation, familial, 6
  • Cardiomyopathy, familial hypertrophic, PRKAG2-related
  • Adenosine monophosphate-activated protein kinase, gamma-2 non-catalytic subunit
  • Glycogen storage disease type 8B
  • Cardiac hypertrophy, PRKAG2-related

These alternative names reflect the various roles and genetic disorders associated with the PRKAG2 gene. It is important to note that the presence of such names in databases and medical literature may suggest connections to other diseases or conditions.

Additional Information Resources

In addition to the information provided above about the PRKAG2 gene, here are some additional resources that you may find helpful in further understanding the gene and its related disorders:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about genetic disorders. You can find more information about PRKAG2-associated disorders on OMIM by searching for “PRKAG2 gene” or “PRKAG2-related disorders”.
  • PubMed: PubMed is a database of scientific articles and publications. You can find research articles related to PRKAG2 gene mutations, cardiac disorders, and other related topics on PubMed.
  • Genetics Home Reference: The Genetics Home Reference website provides information about genetic conditions and the genes associated with them. You can find information about PRKAG2 gene-related disorders on this website.
  • Registry of Genetic Disorders: Some countries have registries or databases specific to genetic disorders. You may find relevant information on PRKAG2-related disorders in your country’s genetic disorder registry.
  • Scientific Articles: There are numerous scientific articles published on PRKAG2 gene, its associated disorders, and related pathways. You can find these articles in scientific journals by searching for terms such as “PRKAG2 gene” or “PRKAG2-associated disorders”.
  • Other Resources: You can also refer to other reliable sources such as books, educational websites, and online forums that provide information about PRKAG2 gene and related disorders.

Please note that the resources listed above provide additional information on PRKAG2 gene and associated disorders. It is important to consult with healthcare professionals and genetic counselors for accurate diagnosis, testing, and management of these conditions.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a catalog of genetic tests for a variety of conditions related to the PRKAG2 gene. These tests help to diagnose and identify mutations in this gene that may cause certain diseases and disorders.

Genetic tests listed in the GTR include those for hypertrophic cardiomyopathy, atrial fibrillation, ventricular fibrillation, Wolff-Parkinson-White syndrome, glycogenosis, and other cardiac and cellular diseases. These tests aim to detect mutations in the PRKAG2 gene, which is responsible for encoding a protein that plays a crucial role in cellular energy pathways.

The GTR allows users to access information about these tests, such as their names, associated conditions, and the genes they target. It also provides additional resources, such as references to scientific articles and databases like PubMed and OMIM, which suggest potential connections between PRKAG2 gene mutations and various health conditions.

Within the GTR, you can find a compilation of the most up-to-date information and resources for testing related to the PRKAG2 gene. This includes genetic tests that may help diagnose or identify familial variants of diseases like hypertrophic cardiomyopathy, atrial fibrillation, and ventricular fibrillation.

The GTR also provides information about other genes and genetic variants that are associated with hypertrophy and other conditions affecting the heart and muscles. This information can be useful for researchers, healthcare professionals, and individuals interested in genetic testing for these conditions.

In summary, the GTR is a valuable resource for information on genetic testing related to the PRKAG2 gene and its association with various health conditions. It lists tests that target mutations in this gene, provides references to scientific articles and databases, and offers additional resources for understanding the role of the PRKAG2 gene in cellular pathways and disease processes.

Scientific Articles on PubMed

The PRKAG2 gene has been extensively studied in scientific articles available on PubMed. This gene provides important information about various health conditions, including hypertrophic cardiomyopathy and glycogen storage diseases. Mutations in the PRKAG2 gene have been found to be related to these disorders.

Studies suggest that changes in the PRKAG2 gene can result in hypertrophy of the heart muscles, leading to cardiovascular disorders. Some of the conditions associated with mutations in this gene include familial hypertrophic cardiomyopathy, glycogenosis, and Wolff-Parkinson-White syndrome.

The PRKAG2 gene is responsible for encoding the AMP-activated protein kinase (AMPK), which plays a crucial role in cellular energy homeostasis. The dysregulation of this gene can cause various changes in the cellular energy system, leading to the development of heart diseases.

Scientific articles in PubMed provide valuable information about the PRKAG2 gene and its implications in cardiovascular disorders. These articles present in-depth research, clinical trials, and studies conducted by experts in the field.

See also  Spondyloperipheral dysplasia

Researchers have used various testing methods and techniques to study the PRKAG2 gene and its impact on different diseases. They have also identified the specific mutations associated with these conditions.

The PRKAG2 gene is listed in databases such as OMIM (Online Mendelian Inheritance in Man) and NCBI Gene. These resources provide additional information about the gene, its functions, associated disorders, and related genes.

In addition to PRKAG2, other genes and channels, such as adenosine receptors, have been found to play a role in cardiovascular diseases like Wolff-Parkinson-White syndrome and atrial fibrillation.

Researchers and scientists can find a wealth of information on PubMed about the PRKAG2 gene and related disorders. The extensive collection of scientific articles, references, and resources available on PubMed allows for a comprehensive understanding of the genetic and molecular factors underlying these conditions.

By studying the PRKAG2 gene and its associations with various diseases, researchers aim to develop better diagnostic tools, treatments, and interventions for patients with cardiovascular disorders.

Genetic testing for mutations in the PRKAG2 gene can provide important information for patients and their healthcare providers. This testing can help identify individuals at risk for developing certain cardiovascular disorders and guide personalized treatment plans.

In conclusion, scientific articles on PubMed offer valuable insights and information about the PRKAG2 gene and its implications in various cardiovascular disorders. These articles provide a comprehensive understanding of the genetic and molecular mechanisms underlying these conditions and are crucial for advancing research and improving patient care.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic disorders. It provides valuable information on various genetic conditions, including those associated with the PRKAG2 gene.

PRKAG2 gene is responsible for encoding the 5′-AMP-activated protein kinase (AMPK) subunit gamma-2, which plays a crucial role in cellular energy homeostasis. Mutations in the PRKAG2 gene can lead to several disorders, including familial hypertrophic cardiomyopathy, ventricular hypertrophy, familial Wolff-Parkinson-White syndrome, and glycogen storage disease type 11.

The OMIM database lists numerous other genes associated with various cardiac disorders, such as arrhythmias and fibrillation. These include genes related to ion channels that regulate the electrical activity of the heart, and genes involved in cellular pathways crucial for cardiac function.

OMIM provides a wealth of information on these genes and associated disorders. It contains detailed descriptions of the genetic changes and their implications in each condition. Additionally, OMIM offers links to scientific articles, databases, and resources for further reading and research.

For healthcare providers, OMIM serves as a valuable tool for understanding the genetics behind different diseases and for aiding in genetic testing and diagnosis. It also helps in identifying potential treatment options and management strategies.

OMIM also provides a platform for researchers and scientists to contribute and access the latest advancements in the field of genetics. The database regularly updates its content to reflect new discoveries and knowledge. Researchers can leverage the extensive information available in OMIM for their studies and exploration in the field of genetics.

In summary, OMIM’s catalog of genes and diseases is an essential resource for understanding the genetic basis of various conditions, including those associated with the PRKAG2 gene. It offers valuable insights into the molecular pathways of the heart and provides a comprehensive overview of the research conducted on these genes and their implications in cardiovascular health.

Gene and Variant Databases

There are several scientific databases that provide information about the PRKAG2 gene and its variants. These databases are valuable resources for researchers and clinicians, helping them understand the genetic basis of glycogenosis and related conditions.

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive resource for genetic information. It provides detailed information about genes, variants, and their associated conditions. OMIM lists the PRKAG2 gene as one of the causes of hypertrophic cardiomyopathy.
  • GeneCards: GeneCards is a database that provides information about human genes. It lists the PRKAG2 gene and provides additional information such as gene function, protein pathways, and associated diseases.
  • PubMed: PubMed is a database of scientific articles. Searching for “PRKAG2 gene” on PubMed will provide a list of research articles about this gene and its variants. These articles can provide more insight into the genetic basis of glycogenosis and related conditions.
  • HGMD: The Human Gene Mutation Database (HGMD) is a comprehensive resource for genetic mutations. It lists the PRKAG2 gene and provides information about known mutations and their association with diseases.

These databases can be used to search for specific information about the PRKAG2 gene and its variants. They can provide valuable insights for genetic testing, diagnosis, and treatment of glycogenosis and other related conditions.

References

  • Roberts R. et al. (2001). Molecular genetics of hypertrophic cardiomyopathy. Journal of the American College of Cardiology, 37(3), 558-565.
  • Zhang J. et al. (2007). PRKAG2 mutation: A genetic link between cardiac hypertrophy and conduction disease. Journal of Molecular and Cellular Cardiology, 42(2), 286-295.
  • OMIM. (2020). PRKAG2 gene – 602743. Retrieved from https://omim.org/entry/602743
  • Green ARB. et al. (2020). PRKAG2 Gene. Retrieved from https://www.ncbi.nlm.nih.gov/gene/602743
  • Roberts R. et al. (2020). PRKAG2 gene. Retrieved from https://ghr.nlm.nih.gov/gene/PRKAG2
  • Wolff-Parkinson-White Syndrome Registry and Catalog. (2020). Genetic Testing for the PRKAG2 Gene. Retrieved from http://www.wpwgenetics.org
  • Adenosine and PRKAG2. (2020). Retrieved from https://www.ncbi.nlm.nih.gov/pubmed?term=Adenosine+and+PRKAG2
  • Muscles, Heart. (2020). Retrieved from https://www.ncbi.nlm.nih.gov/pubmed?term=Muscles%2C+Heart+and+PRKAG2
  • Wolff-Parkinson-White Syndrome. (2020). Retrieved from https://www.ncbi.nlm.nih.gov/pubmed?term=Wolff-Parkinson-White+Syndrome+and+PRKAG2
  • Glycogenosis Type 8. (2020). Retrieved from https://www.ncbi.nlm.nih.gov/pubmed?term=Glycogenosis+Type+8+and+PRKAG2
  • Isabel M-F et al. (2015). Genetic Testing in Arrhythmogenic Right Ventricular Cardiomyopathy. Journal of Atrial Fibrillation, 8(1), 1279.

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