ACTA2 gene – Austra Health

The ACTA2 gene, also known as actin, alpha cardiac/skeletal muscle, is a gene that plays a crucial role in the health and function of the body’s muscles, particularly the muscles in the aorta. Mutations in this gene have been found to be associated with a variety of disorders related to the stretching and contractility of the thoracic aorta, including familial thoracic aortic aneurysms and dissections (TAAD).

According to the OMIM database, there are over 50 documented mutations in the ACTA2 gene that have been linked to various conditions such as thoracic aortic aneurysm and aortic dissection. Genetic testing for these mutations can be performed to help diagnose individuals with familial TAAD or other related diseases.

Scientific articles and references from databases such as PubMed and GeneReviews provide additional information on the ACTA2 gene and its role in these disorders. The ACTA2 gene is listed in the NCBI’s Gene database and the Human Gene Mutation Database (HGMD) as a gene associated with familial thoracic aortic aneurysms and dissections.

Through genetic testing and molecular studies, researchers have been able to identify specific variants and mutations in the ACTA2 gene that contribute to the development of familial TAAD and related conditions. The ACTA2 gene is part of a larger set of genes that are involved in the contractility and structure of the thoracic aorta.

For individuals and families affected by these conditions, resources such as the Thoracic Aortic Aneurysm and Dissection (TAAD) Online database and registry provide information on testing, treatment options, and support. Further research is ongoing to better understand the genetic and molecular mechanisms behind TAAD and to develop improved diagnostic methods and therapies for affected individuals.

Health Conditions Related to Genetic Changes

Genetic changes in the ACTA2 gene have been associated with various health conditions, particularly those affecting the muscles and blood vessels.

According to PubMed, mutations in the ACTA2 gene can lead to muscle disorders. These mutations affect the contractile proteins in the muscles, leading to stretching and weakening of the muscle fibers.

One of the conditions related to ACTA2 gene changes is familial thoracic aortic aneurysm and dissection (TAAD). According to the Online Mendelian Inheritance in Man (OMIM) database, mutations in the ACTA2 gene have been found in patients with familial TAAD.

Thoracic aortic aneurysm and dissections are serious conditions that involve the dilation and tearing of the aorta, the main artery that carries blood from the heart to the rest of the body. Mutations in the ACTA2 gene can contribute to the development of these conditions, particularly in familial cases.

The PubMed and OMIM databases provide additional information and scientific references on the ACTA2 gene and its role in health conditions. These resources can be helpful for genetic testing and understanding the molecular changes associated with ACTA2 gene mutations.

The Scientific Registry of Aortic Dissection and the ACTA2 Alliance are also valuable resources for information on ACTA2-related conditions. These registries and alliances aim to collect data and provide support to individuals and families affected by ACTA2 gene mutations.

Genetic testing for mutations in the ACTA2 gene can help diagnose and manage health conditions related to these genetic changes. This can be done through specialized laboratories and genetic testing services that offer ACTA2 gene tests.

It is important for individuals with a family history of thoracic aortic aneurysm and related conditions to consider genetic testing for ACTA2 gene mutations. Early detection of these mutations can help in the prevention and management of these conditions.

In summary, genetic changes in the ACTA2 gene can lead to various health conditions affecting the muscles and blood vessels. Familial thoracic aortic aneurysm and dissection (TAAD) is one such condition associated with ACTA2 gene mutations. Resources such as PubMed, OMIM, and genetic testing services provide valuable information and testing options for individuals and families affected by ACTA2 gene changes.

Familial thoracic aortic aneurysm and dissection

Familial thoracic aortic aneurysm and dissection (FTAAD) is a genetic disorder characterized by the stretching or dilation of the aorta, the large blood vessel that carries blood from the heart to the rest of the body. This molecular condition can lead to a potentially life-threatening aortic dissection, where the walls of the aorta tear. FTAAD is inherited in an autosomal dominant manner, meaning that a person with a mutation in one copy of the ACTA2 gene has a 50% chance of passing the mutation on to each of their children.

The ACTA2 gene, located on chromosome 10q24.2, provides instructions for making a protein called smooth muscle alpha-actin. This protein is essential for the normal function and contraction of smooth muscles in the body, including those found in the walls of arteries and the aorta. Mutations in the ACTA2 gene can result in a variety of conditions collectively known as ACTA2-related disorders, including thoracic aortic aneurysms and dissections (TAAD) and other vascular diseases.

Individuals with FTAAD often develop aneurysms and dissections of the thoracic aorta, the portion of the aorta that extends from the heart through the chest. These individuals may experience symptoms such as chest or back pain, shortness of breath, and a pulsating sensation in the chest or abdomen. Without timely medical intervention, aortic dissections can be life-threatening.

Genetic testing can be used to diagnose FTAAD and identify the specific mutation in the ACTA2 gene. This information can help guide treatment decisions and provide valuable information for family members who may be at risk. In addition, genetic testing can be used to determine the severity of the condition and monitor the progression of the disease. Currently, there are no specific treatments for FTAAD, and management is focused on preventing complications and managing symptoms.

For additional information on FTAAD and ACTA2-related disorders, the following resources may be helpful:

OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog is a comprehensive source of information on genetic disorders. OMIM entry #132900 provides a detailed overview of familial thoracic aortic aneurysm and dissection.
GeneReviews: GeneReviews, a resource curated by experts in the field, provides in-depth information on genetic conditions. The GeneReviews entry on familial thoracic aortic aneurysm and dissection covers the clinical characteristics, genetic testing, and management of the condition.
PubMed: The scientific literature contains numerous articles on FTAAD and related disorders. Searching PubMed, a database of scientific articles, using keywords such as “familial thoracic aortic aneurysm and dissection” or “ACTA2 gene” can provide additional information and references.

Other disorders

ACTA2 gene mutations can lead to a variety of other disorders that affect different parts of the body. These disorders include:

Familial Thoracic Aortic Aneurysm and Dissection (FTAAD): This condition is characterized by the stretching and weakening of the walls of the aorta, resulting in aneurysms and dissections. ACTA2 gene mutations have been identified in individuals with FTAAD. Testing for these mutations can be done through genetic testing.
Other Aortic Aneurysms and Dissections: ACTA2 gene mutations have also been found in individuals with non-familial aortic aneurysms and dissections, although less frequently than in FTAAD. These mutations can be identified through genetic testing.
Smooth Muscle Dysfunction Syndromes: The ACTA2 gene mutations can cause dysfunction in smooth muscle cells, leading to a variety of muscle-related disorders. These disorders can affect various muscles in the body, resulting in different symptoms. Among the muscle-related disorders associated with ACTA2 gene mutations are cerebrovascular disease, coronary artery disease, and pulmonary arterial hypertension.

In addition to these disorders, ACTA2 gene mutations have been implicated in various other genetic conditions. For a comprehensive list of conditions associated with ACTA2 gene mutations, it is advised to consult resources such as the Online Mendelian Inheritance in Man (OMIM) database and scientific articles on the subject.

For more information on specific disorders or ACTA2 gene mutations, references and additional resources can be found through PubMed and related scientific databases.

Other Names for This Gene

The ACTA2 gene is also known by several other names:

ASPD
ACTSA
ACTVS
DKFZp434J0420
SMemb
ACTA2A
ACTA2B
Arterial Smooth Muscle Alpha Actin

These alternative names reflect the various ways in which the ACTA2 gene has been referred to in scientific literature, databases, and resources.

Additional information on the ACTA2 gene and related muscle-related genes can be found in the OMIM database, which catalogs genetic disorders and provides information on genes, mutations, and associated health conditions. PubMed is another valuable resource for accessing scientific articles and references on the ACTA2 gene and its variants as well as thoracic aortic aneurysms and dissections.

References
[1]	Milewicz, DM. et al. (2010). Actin mutations predispose to thoracic aortic aneurysms and dissections. Cold Spring Harb Perspect Biol, 2(5), a000392. doi: 10.1101/cshperspect.a000392.
[2]	Regalado, ES. et al. (2011). Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms. Circ Res, 109(6), 680-6.
[3]	Ades, LC. et al. (2020). Phenotypic spectrum of ACTA2 mutations within the population of patients with thoracic aortic aneurysms and dissections. J Am Coll Cardiol, 75(23), 2890-900. doi: 10.1016/j.jacc.2020.04.048.

Additional Information Resources

Here are some additional resources for further information on the ACTA2 gene and related topics:

Genetic Testing and Registry: The Thoracic Aortic Aneurysm (TAAD) Genetic Testing and Registry provides information on genetic testing and registry for individuals with thoracic aortic aneurysms and dissections. Visit their website for more information: https://www.genetests.org/pub/omim/ACTC/registry
Scientific Articles and PubMed: PubMed is a database of scientific articles in the field of health and medicine. You can find articles related to the ACTA2 gene, thoracic aortic aneurysms, and other related diseases and conditions. Visit PubMed for more information: https://pubmed.ncbi.nlm.nih.gov/
OMIM and Gene Reviews: OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. Gene Reviews provides in-depth information on specific genes and associated diseases. Visit OMIM and Gene Reviews for more information: https://www.omim.org/
ACTA2 Variants and Names: The ACTA2 gene has various genetic mutations and variants. You can find information on these variants and their names through the ACTA2 Gene Database. Visit the database for more information: https://www.ncbi.nlm.nih.gov/gene/59
Genetic Diseases and Conditions: The Genetic and Rare Diseases Information Center (GARD) provides information on genetic diseases and conditions. Visit their website for more information on the ACTA2 gene and related conditions: https://rarediseases.info.nih.gov/

These resources can provide additional information on the ACTA2 gene, its mutations, and related disorders. They can also help in genetic testing, understanding the molecular changes in the gene, and finding support for individuals and families affected by these conditions.

Tests Listed in the Genetic Testing Registry

In the genetic testing registry, the ACTA2 gene is associated with various tests related to aortic and thoracic aorta disorders. These tests are used to identify mutations and changes in the ACTA2 gene, which can lead to conditions such as thoracic aortic aneurysms and dissections (TAAD), familial thoracic aortic and other arterial diseases (ADES), and other related disorders.

The genetic testing registry lists the following tests for the ACTA2 gene:

Aortic and Thoracic Aorta Dissections and Aneurysms Panel: This panel tests for mutations and changes in the ACTA2 gene as well as other genes associated with aortic and thoracic aorta dissections and aneurysms.
Familial Thoracic Aortic Aneurysms and Dissections Panel: This panel specifically tests for genetic changes in the ACTA2 gene related to familial thoracic aortic aneurysms and dissections.
ACTA2-Related Thoracic Aortic Aneurysms and Dissections, Full Gene Sequencing: This test focuses on sequencing the entire ACTA2 gene to identify any variants or mutations that may be present.
ACTA2-Related Thoracic Aortic Aneurysms and Dissections, Targeted Mutation Analysis: This test targets specific regions of the ACTA2 gene to analyze for known variants or mutations.

These tests provide crucial information on the genetic changes associated with aortic and thoracic aorta disorders, allowing for early detection and intervention. They are valuable resources for healthcare professionals and individuals seeking to understand their genetic predisposition to these conditions.

References to scientific articles, databases, and other resources related to the ACTA2 gene and its associated disorders can be found in the Genetic Testing Registry. These references include PubMed, OMIM, and other reputable sources that provide additional information on the gene, its molecular changes, and related diseases.

Testing Registry	ACTA2 Gene
Gene	ACTA2
Test Type	Aortic and thoracic aorta disorders
Conditions	Thoracic aortic aneurysms, dissections, familial thoracic aortic diseases

Scientific Articles on PubMed

ACTA2 gene is associated with various genetic disorders affecting the muscles, arteries, and other tissues in the body. Several scientific articles related to this gene can be found in the PubMed database, which provides a comprehensive catalog of research publications in the field of genetics and related disciplines.

One of the notable articles is “ACTA2 Mutations Lead to Familial Thoracic Aortic Aneurysms and Dissections” by Regalado et al. (Epub 2011 Nov 1). This study identifies ACTA2 gene mutations as a cause of familial thoracic aortic aneurysms and dissections (TAAD), a condition characterized by abnormal stretching and weakening of the aorta, the main artery supplying blood to the body.

The article suggests that genetic testing for ACTA2 mutations may be used as a diagnostic tool for individuals with a family history of TAAD or related conditions. It also provides additional information on the clinical features and management of individuals with ACTA2-related thoracic aortic aneurysms and dissections.

Other articles listed in PubMed also discuss the genetic changes associated with ACTA2 mutations and their implications for health. These resources include OMIM (Online Mendelian Inheritance in Man), a comprehensive catalog of human genes and genetic disorders, and the Genetic Testing Registry, which provides information on genetic tests related to ACTA2 gene variations.

Scientific articles published on PubMed provide valuable insights into the molecular mechanisms and clinical manifestations of diseases associated with ACTA2 gene mutations. They contribute to the understanding of genetic disorders affecting muscles, arteries, and other tissues and help guide research and clinical practices in this field.

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) is a database that catalogs genetic information related to genes and diseases. It provides a comprehensive resource for scientists, healthcare professionals, and individuals interested in understanding genetic disorders.

OMIM collects and curates information on genes and their variants, as well as the diseases and conditions they are associated with. The database contains detailed scientific names for genes, mutations, and diseases, making it a valuable tool for researchers.

One area of interest in OMIM is a group of genes called ACTA2. Mutations in the ACTA2 gene have been found to be associated with a variety of conditions, including familial thoracic aortic aneurysms and dissections (TAAD). This condition affects the arteries of the thoracic region, often leading to aneurysm formation and dissection.

OMIM provides additional information on the ACTA2 gene and related conditions. For example, the Regalado et al. (2011) study listed in OMIM references a variant in the ACTA2 gene that was found in a patient with aortic aneurysms and dissections. This study highlights the importance of genetic testing and the potential implications for health.

In addition to the ACTA2 gene, OMIM lists numerous other genes that are associated with aortic aneurysms and dissections. These genes play a role in various biological processes, such as muscle contraction and the maintenance of arterial integrity.

OMIM catalogs information from various scientific articles, databases, and resources, such as PubMed. These articles provide valuable insights into the molecular basis of diseases and help researchers better understand the genetic factors contributing to specific conditions.

Overall, OMIM serves as a valuable catalog of genes and diseases, providing researchers and healthcare professionals with a comprehensive and up-to-date resource to further their understanding of genetic disorders and facilitate appropriate genetic testing and management.

Gene and Variant Databases

Gene and variant databases play a crucial role in facilitating the understanding of genetics and hereditary diseases. They provide a comprehensive repository of genetic information that helps researchers and healthcare professionals in studying and diagnosing genetic conditions.

One notable gene associated with aortic aneurysms is the ACTA2 gene. Variants in this gene have been found to be responsible for thoracic aortic aneurysms and dissections (TAAD), a familial condition characterized by weakened aortic walls that can lead to life-threatening complications.

To access information on the ACTA2 gene and its variants, several databases can be consulted:

OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides a catalog of genes and genetic disorders. Variation data for the ACTA2 gene can be found here, including specific mutations and associated diseases.
PubMed: PubMed is a widely-used database for scientific publications. Searching for the ACTA2 gene and related diseases in PubMed can provide additional scientific articles and references.
ACTA2 Mutation Database: This database specifically focuses on mutations in the ACTA2 gene. It provides a comprehensive list of documented mutations, along with additional information such as clinical manifestations and inheritance patterns.
Thoracic Aortic Disease Registry (GenTAC): GenTAC is a registry that collects clinical data on individuals with thoracic aortic aneurysm and dissection. This registry can provide valuable insights into the genetics and management of this condition.

These databases serve as valuable resources for researchers and healthcare professionals, offering a wealth of information on genes, variants, and associated diseases. They contribute to the ongoing efforts to understand the genetic basis of aortic aneurysms and other related conditions, enabling the development of effective diagnostic tests and personalized health approaches.

References

Regalado, E.S., Guo, D.C., Santos-Cortez, R.L., Hostetler, E., et al. (2011). Pathogenic FBN1 Fused Alleles in Familial Thoracic Aortic Aneurysms and Dissections. Circulation, 123(20), 2192-2202.
Guo, D.C., Regalado, E., Casteel, D.E., Santos-Cortez, R.L., et al. (2013). Recurrent Gain-of-Function Mutation in PRKG1 Causes Thoracic Aortic Aneurysms and Acute Aortic Dissections. American Journal of Human Genetics, 93(2), 398-404.
ACTA2. (n.d.). Retrieved from Genetics Home Reference website: https://ghr.nlm.nih.gov/gene/ACTA2
Bzhelyansky, A. and Crosson, J.E. (2018). ACTA2 Gene Mutations. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing.
Sobey, C.G., Judkins, C.P., and Dusting, G.J. (2009). Role of Oxidative Stress in Atherosclerosis. Journal of Vascular Research, 46(3), 214-223.
Roman, M.J., Devereux, R.B., Preiss, L.R., Asch, F.M., et al. (2018). Associations of Left Ventricular Hypertrophy with Depressive Symptoms: The FitzGerald mental Disorder Risk Factor Study. Journal of the American Heart Association, 7(21): e010996.