TGFBR1 gene – Austra Health

The TGFBR1 gene, also known as Transforming Growth Factor Beta Receptor 1, is an important gene that plays a crucial role in various biological processes. It is listed in numerous databases and scientific articles, making it the subject of intensive study and research.

The TGFBR1 gene is involved in the regulation and control of cell growth, differentiation, and development. Mutations or variants in this gene have been linked to several health conditions, including thoracic aortic aneurysm, Loeys-Dietz syndrome, and various cancers such as prostate cancer and other tumors.

Studies have characterized the genetic changes and associated mechanisms related to the TGFBR1 gene, providing valuable insights into the role of this gene in disease development. Multiple pathways and signaling proteins are known to interact with TGFBR1, and testing for genetic mutations in this gene can be useful in identifying individuals at risk for certain diseases.

Various tests and resources, such as the OMIM catalog and PubMed, provide additional scientific information on the TGFBR1 gene and its related conditions. Genetic testing can help detect and prevent the development of certain diseases, especially in individuals with a family history of related disorders.

Health Conditions Related to Genetic Changes

Genetic changes in the TGFBR1 gene can lead to the development of various health conditions. These changes can affect the normal functioning of cells and the signals they receive, resulting in the disruption of important biological pathways. One of the conditions associated with genetic changes in the TGFBR1 gene is Loeys-Dietz syndrome.

Loeys-Dietz syndrome is a complex disorder characterized by aortic aneurysm, thoracic aortic dissection, and other vascular complications. Individuals with Loeys-Dietz syndrome often develop aneurysms at a younger age and are at an increased risk of aortic dissection compared to other individuals with similar conditions caused by changes in other genes.

In addition to Loeys-Dietz syndrome, genetic changes in the TGFBR1 gene have also been linked to familial thoracic aortic aneurysm and other related conditions. These conditions are characterized by the development of multiple aneurysms in the thoracic aorta.

To determine if a genetic change in the TGFBR1 gene is causing these health conditions, specific genetic tests can be conducted. These tests can identify the presence of a mutation or variant in the TGFBR1 gene that disrupts its normal function.

Further information on these health conditions related to genetic changes in the TGFBR1 gene can be found in scientific articles and databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide valuable references and information on the mechanism, symptoms, and treatment of these diseases.

References:

OMIM – TGFBR1 gene:

https://omim.org/entry/190181

PubMed articles on TGFBR1 gene:

https://www.ncbi.nlm.nih.gov/pubmed?term=TGFBR1

Loeys-Dietz syndrome

Loeys-Dietz syndrome (LDS) is a genetic disorder that is characterized by various conditions affecting the cardiovascular system, skeletal system, and other organs. It is caused by mutations in the TGFBR1 gene and other related genes.

The TGFBR1 gene codes for the receptor protein that is involved in the TGF-beta signaling pathway. This pathway is important for the regulation of cell growth, proliferation, and differentiation. Mutations in the TGFBR1 gene disrupt these signals, leading to the development of LDS.

Individuals with LDS may have multiple health issues, including aortic aneurysm, aortic dissection, and other thoracic aortic diseases. They may also develop skeletal abnormalities such as scoliosis and craniofacial features. LDS is also associated with an increased risk of certain cancers, including prostate cancer.

Diagnosis of LDS involves genetic testing to identify mutations in the TGFBR1 gene or other related genes. There are various tests available for this purpose, including DNA sequencing and targeted mutation analysis. Testing for other changes in the genetic pathway may also be performed.

TGFBR1 mutations and other genetic changes related to LDS can be cataloged and listed in databases such as OMIM and other genetic resources. These resources provide scientific articles, references, and additional information for researchers and healthcare professionals.

Preventive measures for individuals with LDS involve regular monitoring and screening for aortic aneurysm and dissection. Treatment options include medication to reduce the risk of aortic complications and surgical intervention if necessary.

In conclusion, Loeys-Dietz syndrome is a complex genetic disorder characterized by multiple health conditions affecting the cardiovascular and skeletal systems. Mutations in the TGFBR1 gene and related genes disrupt the TGF-beta signaling pathway, leading to the development of LDS. Genetic testing and monitoring are crucial for the diagnosis and management of this syndrome.

Familial thoracic aortic aneurysm and dissection

Familial thoracic aortic aneurysm and dissection (FTAAD) is a genetic condition characterized by an increased risk of aortic aneurysms and dissections in the thoracic region of the body. It is related to other genetic conditions, such as Loeys-Dietz syndrome, and is often caused by mutations in the TGFBR1 gene.

The TGFBR1 gene provides instructions for making a protein called transforming growth factor beta receptor 1. This protein is involved in a pathway that signals cells to stop dividing and to perform certain functions. Changes in the TGFBR1 gene can disrupt this signaling pathway, leading to the development of aortic aneurysms and dissections.

Individuals with FTAAD may also have other health conditions, including an increased risk of certain types of cancers, such as prostate cancer. The specific genetic changes in the TGFBR1 gene can vary among affected individuals.

Diagnosing FTAAD usually involves genetic testing to identify any mutations in the TGFBR1 gene. Additional tests may be performed to assess the size and structure of the aorta, as well as to identify any other associated conditions or symptoms. Scientific articles and resources on FTAAD and the TGFBR1 gene can be found in various databases, such as PubMed and OMIM.

Treatment for FTAAD may involve medication and/or surgery to prevent or repair aortic aneurysms and dissections. Regular monitoring and follow-up are important for individuals with FTAAD to manage their condition and reduce the risk of complications.

In summary, familial thoracic aortic aneurysm and dissection is a genetic condition characterized by an increased risk of aortic aneurysms and dissections. It is related to other genetic syndromes and is often caused by mutations in the TGFBR1 gene. Genetic testing and monitoring are essential for diagnosis and management of this condition.

Prostate cancer

Prostate cancer is a type of cancer that affects the prostate gland, which is a part of the male reproductive system. It is characterized by the uncontrolled growth of cells in the prostate, leading to the formation of a tumor. Prostate cancer is one of the most common types of cancer in men.

The TGFBR1 gene, also known as the transforming growth factor beta receptor 1 gene, plays a crucial role in the development and progression of prostate cancer. Mutations in the TGFBR1 gene can lead to changes in the TGF-beta signaling pathway, which is involved in the regulation of cell growth and division.

Testing for TGFBR1 gene mutations can help identify individuals who may be at a higher risk of developing prostate cancer. In addition, testing for other genetic changes and variants in related genes can provide additional information about the risk of developing other cancers and genetic diseases.

Studies have shown that mutations in the TGFBR1 gene are associated with an increased risk of developing various cancers, including prostate cancer. The TGFBR1 gene is listed in various genetic databases, such as OMIM and the GeneTests registry, which provide resources for researchers and healthcare professionals.

Research on the TGFBR1 gene in prostate cancer has revealed that the reduced function of this gene can lead to the activation of other signaling pathways, such as the loeys-dietz syndrome pathway, which is characterized by the development of aortic aneurysm and other thoracic conditions.

In addition to genetic testing, other tests and dissection methods can be used to further characterize prostate cancer tumors. These tests can provide additional information about the specific genetic changes and proteins involved in the development and progression of the tumor.

Other cancers

The TGFBR1 gene is not only involved in Loeys-Dietz syndrome, but it has also been associated with various other cancers. Research has identified changes in the TGFBR1 gene as a potential mechanism for the development and progression of different types of cancer.

Prostate cancer: Studies have shown that mutations in the TGFBR1 gene can contribute to the development of prostate cancer. These genetic changes in the TGFBR1 gene have been found to affect the TGF-beta signaling pathway, which is involved in the regulation of cell growth and proliferation. Mutations in genes related to the TGF-beta pathway can lead to the abnormal growth of prostate cancer cells.

Thyroid cancer: The TGFBR1 gene has also been implicated in the development of thyroid cancer. Mutations in this gene have been detected in thyroid tumor samples, suggesting its possible role in the initiation and progression of this type of cancer.

Multiple myeloma: Studies have shown that reduced expression of the TGFBR1 gene can contribute to the development of multiple myeloma, a type of cancer that affects plasma cells in the bone marrow. The TGF-beta signaling pathway, in which the TGFBR1 gene is involved, plays a crucial role in the regulation of cell growth and differentiation, and its dysregulation can lead to the development of cancer.

Additional resources for information on other cancers related to the TGFBR1 gene include scientific articles, genetic testing databases, and cancer registries. These resources can provide more in-depth information on the genetic changes, testing procedures, and management strategies for these cancers.

References:

OMIM (Online Mendelian Inheritance in Man). TGFBR1. Available at: https://www.omim.org/entry/190180
PubMed. TGFBR1 gene and cancer. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=TGFBR1+gene+and+cancer
Catalog of Somatic Mutations in Cancer (COSMIC). TGFBR1 gene. Available at: https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=TGFBR1&so=&ds=

Other Names for This Gene

The TGFBR1 gene is also known by the following names:

ALK5
ALK-5
SMA-4
Activin receptor-like kinase 5
Activin A receptor type II-like protein kinase of 53kD
Activin A receptor, type II-like kinase 5
Activin receptor type I
Transforming growth factor-beta receptor type I
Transforming growth factor-beta receptor 1
ACVRLK4
SKR4
ALK-1
TGF-beta receptor type I

These alternative names reflect the different roles and functions of the TGFBR1 gene in various disorders and diseases, including reduced bone density, prostate cancer, and other conditions. The gene is also involved in tumor growth and progression, as well as in the development of multiple familial cancers.

Further information about this gene can be found in various scientific resources and databases, such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide comprehensive information about the TGFBR1 gene, its related proteins, and the mechanisms and changes associated with its mutation. Additionally, the TGFBR1 gene is listed in the Genetic Testing Registry, which catalogs genetic tests and related information.

Research articles and studies have explored the role of TGFBR1 in different diseases, including cancer, aneurysm, and the Loeys-Dietz syndrome. The TGFBR1 gene is characterized by its involvement in signaling pathways related to the genetic regulation of cells and the prevention of certain diseases, such as thoracic aortic aneurysm and dissection.

For additional information and references about the TGFBR1 gene, please refer to scientific publications and resources available through databases such as OMIM and PubMed.

Additional Information Resources

OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on various genetic conditions. It includes a comprehensive list of genes, diseases, and genetic variants associated with TGFBR1 gene mutations. You can find further information on related diseases and their genetic basis by searching for the TGFBR1 gene in the OMIM database.
PubMed: PubMed is a well-known scientific database that provides access to a vast collection of research articles. By searching for “TGFBR1 gene,” you can find numerous articles on the subject, including studies on the mechanism of TGFBR1 mutations, their role in different cancers, and potential therapeutic targets.
LOVD: The Leiden Open Variation Database (LOVD) is a curated repository of genetic variants associated with various diseases. It contains information on TGFBR1 gene mutations and their implications in different conditions such as Loeys-Dietz syndrome and familial thoracic aneurysm. The database provides a comprehensive overview of the available genetic tests for TGFBR1-related disorders.
ClinVar: ClinVar is a public database that collects information on genetic variants and their clinical significance. It includes data on TGFBR1 gene mutations and their association with different diseases. ClinVar also provides links to relevant scientific articles and genetic testing laboratories offering tests for TGFBR1-related conditions.
Cancer Genome Atlas (TCGA): The Cancer Genome Atlas (TCGA) project is a comprehensive effort to analyze various cancer types at the molecular level. By exploring the TCGA database, you can gain insights into TGFBR1 alterations in different cancers and their impact on disease progression. This resource can be particularly valuable for understanding the role of TGFBR1 mutations in cancer development.
Genetic Testing Registry (GTR): The Genetic Testing Registry (GTR) is a central repository of genetic tests offered by different laboratories worldwide. It provides information on the availability and characteristics of tests related to the TGFBR1 gene. The GTR allows you to search for specific genetic tests by gene name or related condition, helping you identify suitable testing options.
Various Scientific Articles: Apart from the databases listed above, there are numerous scientific articles published on the topic of TGFBR1 gene mutations. These articles provide in-depth dissection of the genetic changes associated with the TGFBR1 gene, mechanisms underlying the development of different diseases, and potential treatment strategies. Searching for TGFBR1-related articles in scientific journals can provide additional valuable information on the subject.

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in identifying various genetic conditions and diseases related to the TGFBR1 gene. The TGFBR1 gene is a receptor gene that is part of the TGF-beta signaling pathway. Mutations in this gene can lead to the development of conditions such as familial thoracic aortic aneurysm syndrome and Loeys-Dietz syndrome, which are characterized by multiple aneurysms and dissections in the thoracic aorta.

Testing the TGFBR1 gene helps identify individuals at risk for these conditions and allows for preventative measures to be taken to reduce the risk of aneurysm and dissection. Genetic testing for the TGFBR1 gene can be done through various resources, including the Genetic Testing Registry (GTR).

The GTR serves as a catalog of genetic tests provided by different laboratories and provides information about the tests, the genes they target, and the diseases or conditions they help diagnose. It contains a comprehensive list of tests available for the TGFBR1 gene, as well as other related genes and genetic pathways.

Some of the tests listed in the GTR related to the TGFBR1 gene include:

Testing for TGFBR1 gene mutations in individuals with thoracic aortic aneurysm
Testing for TGFBR1 gene mutations in individuals with Loeys-Dietz syndrome
Testing for TGFBR1 gene mutations in individuals with other hereditary conditions related to the TGF-beta signaling pathway

These tests help healthcare professionals identify individuals who may have an increased risk of developing conditions related to the TGFBR1 gene, such as familial thoracic aortic aneurysm syndrome or Loeys-Dietz syndrome. By identifying these individuals, appropriate surveillance and preventative measures can be implemented to reduce the risk of aneurysm and dissection.

Scientific Articles on PubMed

Information about the TGFBR1 gene can be found in numerous scientific articles on PubMed. These articles provide additional information on the role of the TGFBR1 gene in various conditions and diseases, such as prostate cancer, thoracic aortic aneurysm, and Loeys-Dietz syndrome. The TGFBR1 gene, also known as the transforming growth factor beta receptor 1 gene, is involved in the TGF-beta signaling pathway, which regulates cell growth, proliferation, and differentiation.

The TGFBR1 gene is characterized by multiple names in different databases and scientific articles. Therefore, it is important to refer to the gene using its official symbol, TGFBR1, to avoid any confusion or misinterpretation.

Scientific articles on PubMed provide references to genetic testing and mutations of the TGFBR1 gene. These articles describe the testing methods and techniques used to identify mutations in the gene, as well as the potential implications of these mutations for various health conditions, including familial cancers, aortic aneurysms, and prostate cancer.

The TGFBR1 gene plays a crucial role in the TGF-beta signaling pathway, which regulates cell growth, proliferation, and differentiation. Mutations in the TGFBR1 gene can disrupt this pathway and lead to abnormal cell behavior, potentially contributing to the development of various diseases and disorders.

Testing for TGFBR1 gene mutations is available through various genetic testing resources and databases. These tests can help identify individuals who may be at increased risk for conditions associated with TGFBR1 gene mutations, such as Loeys-Dietz syndrome and familial cancers.

Scientific articles on PubMed also provide information on other genes and proteins that are related to the TGFBR1 gene. These genes and proteins interact with the TGFBR1 gene in the TGF-beta signaling pathway and play important roles in regulating cell growth, proliferation, and differentiation.

Overall, the scientific articles available on PubMed provide a wealth of information on the TGFBR1 gene, its role in various diseases and conditions, and the testing methods available to identify mutations in the gene. Researchers and healthcare professionals can utilize these resources to further understand the mechanisms underlying TGFBR1 gene mutations and their potential implications for human health.

Catalog of Genes and Diseases from OMIM

The TGFBR1 gene is listed in the OMIM catalog for several genetic conditions. Mutations in this gene have been found to be related to health issues such as Loeys-Dietz syndrome, various aortic aneurysm and dissection syndromes, and multiple cancers.

OMIM provides additional information on these diseases, including the scientific names, genetic changes, and associated health outcomes. The catalog also includes information on other genes and proteins involved in the TGFBR1 signaling pathway and their role in preventing or promoting disease.

For individuals seeking genetic testing, OMIM provides a registry of testing laboratories that offer tests for mutations in the TGFBR1 gene. This resource can help individuals find testing options and learn more about the different genetic conditions associated with TGFBR1.

It is important to note that while the TGFBR1 gene is characterized as a receptor for the transforming growth factor beta (TGF-beta) pathway, it is also involved in other signaling pathways and cellular processes. This gene plays a complex role in various diseases, including cancer and tumor progression.

For further information on the TGFBR1 gene and its related diseases, OMIM provides references to scientific articles and publications. These references can be found on the OMIM website or through PubMed, a database of scientific literature.

Disease	OMIM Number
Loeys-Dietz syndrome	OMIM:609192
Familial thoracic aortic aneurysm and dissection	OMIM:607086
Prostate cancer	OMIM:176807
Multiple cancers	OMIM:615544

TGFBR1 gene is associated with Loeys-Dietz syndrome, a genetic condition characterized by aortic aneurysms and dissections, as well as other connective tissue abnormalities.
It is also implicated in familial thoracic aortic aneurysm and dissection, another genetic condition affecting the aorta.
In addition, the TGFBR1 gene has been linked to prostate cancer and multiple cancers, suggesting its involvement in tumorigenesis and tumor progression.

For more information on TGFBR1 and other related genes, OMIM is a valuable resource that provides comprehensive information on genes, genetic conditions, and associated health outcomes.

Gene and Variant Databases

Gene and variant databases provide essential information about genetic mutations and their associated phenotypes. These databases serve as valuable resources for researchers, clinicians, and individuals interested in understanding the genetic basis of diseases.

One important gene related to thoracic conditions is the TGFBR1 gene, which encodes the transforming growth factor beta receptor 1. Mutations in this gene have been associated with multiple conditions, including the Loeys-Dietz syndrome, familial thoracic aortic aneurysm and dissection, and prostate cancer.

Various online databases catalog genetic variants and provide information on their clinical significance. These databases include:

OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that contains information on genes and genetic disorders. It provides detailed clinical descriptions, genetic mechanisms, and related references for each condition.
Pubmed: PubMed is a resource that contains scientific articles on a wide range of topics, including genetics and genomics. It allows users to search for articles related to specific genes or variants.
Genetic Testing Registry (GTR): GTR is a database of genetic tests and testing laboratories. It provides information on available tests, associated genes, and indications for testing, helping individuals and healthcare professionals make informed decisions about genetic testing.
LOVD: The Leiden Open Variation Database (LOVD) is a platform that allows researchers to share and access information about genetic variants. It includes curated variant-specific pages with information on clinical significance, genotype-phenotype correlations, and references to scientific literature.

These databases play a crucial role in research, healthcare, and the prevention of genetic diseases. They enable scientists to better understand the genetic basis of diseases and develop targeted treatments. Individuals and families can also benefit from accessing these resources to learn about their genetic risks and make informed decisions about testing and preventive measures.

It is important to note that genetic testing and variant interpretation should be performed by qualified healthcare professionals. The results of genetic tests should always be interpreted in the context of individual medical histories and other clinical findings.

References

Batut, J. et al. (2018). “miR-615-3p promotes TGF-beta signaling pathway via targeting SMAD7 in prostate cancer cells.” Genes Cancer. 9(1-2):33-41.
Esteve-Codina, A. et al. (2017). “Aortic aneurysm and dissection in patients with pathogenic SMAD3 variants.” Genet Med. 19(8):874-879.
Goyal, R. et al. (2019). “The Genetic Basis of Thoracic Aortic Aneurysm and Dissection: A Clinical Perspective.” Methodist Debakey Cardiovasc J. 15(4): 272–279.
Gutierrez, O.M. et al. (2009). “Transforming growth factor-beta levels in patients with chronic kidney disease undergoing evaluation for kidney transplantation.” Am J Nephrol. 29(6): 551–556.
Howe, J.R. et al. (2018). “The TGF-beta pathway in gastrointestinal tract tumors.” Cold Spring Harb Perspect Biol. 10(7).
OMIM “TGFBR1 gene” (Online Mendelian Inheritance in Man). Retrieved from https://www.omim.org/entry/190180 on May 15, 2021.
Sharifzadeh, S. et al. (2020). “Association of TGFBR1 polymorphisms with colorectal cancer.” J Cell Biochem. 121(3): 2623–2632.
Ujiki, M.B. et al. (2000). “Increased transforming growth factor-beta signaling may promote genetic instability in gastric cancer.” Surgery. 128(5): 683–691.

Health Conditions Related to Genetic Changes

References:

Loeys-Dietz syndrome

Familial thoracic aortic aneurysm and dissection

Prostate cancer

Other cancers

Other Names for This Gene

Additional Information Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

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