The TTR gene, also known as transthyretin, is a scientific term used to describe a specific genetic variant that has been linked to various amyloid diseases. Amyloid diseases are a group of disorders characterized by the buildup of abnormal proteins in different organs or tissues. These disorders are relatively common in certain populations, affecting approximately 1 to 2 percent of people of African descent.

When the TTR gene undergoes certain changes or mutations, it can lead to the production of variant proteins that have a higher tendency to form amyloid deposits. One such variant is associated with a syndrome called carpal tunnel amyloidosis, in which the abnormal protein accumulates in the carpal tunnel, causing symptoms like pain, numbness, and weakness in the hands.

In addition to carpal tunnel amyloidosis, the TTR gene has been implicated in several other amyloid diseases, including familial amyloid cardiomyopathy, familial amyloid polyneuropathy, and senile systemic amyloidosis. These conditions can affect multiple organs and lead to significant health issues.

Scientific databases and resources, such as PubMed, OMIM, and the TTR Registry, provide valuable information on the TTR gene, its variants, and their association with different amyloidosis conditions. These databases also list other genes and proteins that bind to TTR, further expanding our understanding of the underlying molecular mechanisms.

Genetic testing plays a crucial role in identifying TTR gene mutations and conducting additional analysis to assess the risk of developing amyloid diseases. These tests involve analyzing DNA samples to detect specific changes or variants in the TTR gene. Such information can be used for genetic counseling, disease diagnosis, and treatment planning.

Understanding the role of the TTR gene and its variants in amyloid diseases is of paramount importance in advancing our knowledge and developing strategies to diagnose and manage these conditions effectively. Ongoing scientific research and the availability of comprehensive genetic databases and resources contribute to improving patient care and ultimately finding potential therapies for individuals affected by amyloid diseases.

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Health Conditions Related to Genetic Changes

Genetic changes in the TTR gene can lead to various health conditions. The TTR gene, also known as the transthyretin gene, is associated with several diseases and disorders. These genetic changes are cataloged in databases and scientific articles for easy reference. Some of the health conditions related to genetic changes include:

1. Transthyretin Amyloidosis

Transthyretin amyloidosis is a syndrome caused by genetic changes in the TTR gene. This condition is characterized by the formation of amyloid proteins, which can accumulate in various organs and tissues, leading to organ damage and dysfunction.

2. Carpal Tunnel Syndrome

Genetic changes in the TTR gene can also be associated with carpal tunnel syndrome. This condition occurs when the TTR gene mutations lead to the accumulation of abnormal transthyretin proteins, which can affect the nerves in the wrist.

3. Thyroxine-Binding Globulin Deficiency

Some genetic changes in the TTR gene can result in thyroxine-binding globulin deficiency. This condition affects the ability of the body to bind and transport the hormone thyroxine, leading to abnormal levels of this hormone.

4. Other Genetic Disorders

Genetic changes in the TTR gene can also be associated with other genetic disorders and conditions. These disorders may affect various systems in the body, and their symptoms can vary widely.

Testing for genetic changes in the TTR gene can be performed to diagnose these health conditions. Genetic testing can help identify specific mutations and variants that are associated with the development of these conditions.

It is important to note that some genetic changes in the TTR gene are more common in certain populations, such as African populations. Understanding these population-specific genetic changes can aid in the diagnosis and management of these conditions.

Additional information and resources on health conditions related to genetic changes in the TTR gene can be found in databases and scientific articles. The Online Mendelian Inheritance in Man (OMIM) database is a valuable resource for information on genetic disorders and their associated genes.

References:

1. González-Duarte A, et al. Hereditary transthyretin amyloidosis (hATTR amyloidosis): insights into clinical characteristics, genetics, and emerging therapies. Curr Trop Med Rep. 2015; 2(2): 113-122.
2. Birkenhäger R, et al. Genetics and genetic testing in carpal tunnel syndrome: A review. J Neurol Sci. 2018; 395: 66-71.
3. Johnston DG, et al. Thyroxine-binding globulin deficiency. Best Pract Res Clin Endocrinol Metab. 2015; 29(5): 735-745.

Transthyretin amyloidosis

Transthyretin amyloidosis, also known as ATTR amyloidosis, is a group of genetic disorders caused by mutations in the TTR gene. This gene encodes a protein called transthyretin, which is responsible for carrying thyroxine, a hormone involved in regulating metabolism, and retinol-binding protein.

In this condition, the mutated transthyretin protein changes its shape and forms amyloid deposits in various tissues and organs, leading to their dysfunction. Common symptoms include peripheral neuropathy, carpal tunnel syndrome, and cardiac abnormalities.

Transthyretin amyloidosis is considered a rare disease, but it is becoming increasingly recognized due to improved diagnostic techniques and awareness. It is often misdiagnosed or confused with other conditions, which can delay proper treatment.

Diagnostic tests for transthyretin amyloidosis include genetic testing to identify mutations in the TTR gene and protein analysis to detect abnormal levels of transthyretin. Additional tests may be performed to evaluate the extent of organ involvement.

Several resources are available for individuals and healthcare professionals seeking more information on transthyretin amyloidosis. The OMIM database provides detailed information on the genetic and molecular basis of this condition. Scientific articles and references can be found on PubMed. The Amyloidosis Research Consortium and the Amyloidosis Foundation offer support and resources for patients and their families.

Transthyretin amyloidosis affects people of all ages and ethnicities, although certain TTR gene mutations are more commonly found in specific populations. For example, the V122I variant is predominantly seen in African Americans.

It is important for individuals with transthyretin amyloidosis and their family members to undergo genetic testing and counseling. This can help identify other individuals who may be at risk for the condition and guide preventive measures or early interventions.

Overall, transthyretin amyloidosis is a complex group of disorders that require a multidisciplinary approach for diagnosis and management. Further research is needed to better understand the genetic and molecular mechanisms underlying these diseases and to develop effective treatments.

Carpal tunnel syndrome

Carpal tunnel syndrome is a common condition that affects people of all ages and ethnicities. It is one of the most common hand and wrist disorders, characterized by pain, numbness, and tingling in the hand and fingers.

This syndrome is often caused by compression of the median nerve as it passes through the carpal tunnel in the wrist. This compression can occur due to a variety of reasons, including genetic factors.

The TTR gene, also known as the transthyretin gene, is associated with carpal tunnel syndrome. Mutations in this gene can lead to the production of variant forms of the TTR protein, which can then bind together and form amyloid deposits. These amyloid changes can contribute to the development of carpal tunnel syndrome.

Research on this genetic variant and its role in carpal tunnel syndrome is still ongoing. However, several genetic databases and resources, such as OMIM, PubMed, and the Genetic Testing Registry, provide information on the TTR gene and related conditions. Additional scientific articles written on this topic can also be found in these databases.

In African populations, carpal tunnel syndrome may be more prevalent due to a higher frequency of the TTR gene variant. Genetic testing can be performed to identify this variant and assess the risk of developing carpal tunnel syndrome.

While carpal tunnel syndrome is often associated with the TTR gene, it can also be caused by other factors, such as repetitive hand movements, certain health conditions like diabetes or thyroid disorders, and wrist injuries. Diagnostic tests, such as nerve conduction studies and electromyography, can help confirm the presence of carpal tunnel syndrome.

Treatment options for carpal tunnel syndrome include conservative measures like wrist splints and physical therapy, as well as medications and, in severe cases, surgery. Management of underlying conditions, such as diabetes or thyroid disorders, may also be necessary.

In summary, carpal tunnel syndrome is a common hand and wrist disorder that can be caused by genetic factors, including mutations in the TTR gene. Further research and testing are needed to fully understand the relationship between this gene variant and carpal tunnel syndrome in different populations.

Other disorders

In addition to TTR mutations, other genetic changes in the TTR gene and related genes have been identified in people with various health conditions. These conditions include carpal tunnel syndrome, amyloidosis, and thyroxine-binding globulin variant.

Some common names for these disorders include familial amyloid polyneuropathy (FAP), familial amyloid cardiomyopathy (FAC), and oculoleptomeningeal amyloidosis. These conditions are caused by mutations in the TTR gene or other genes involved in the production or processing of TTR proteins.

These disorders can have different symptoms and may vary in severity. Testing for genetic changes in the TTR gene and related genes can help in diagnosing these conditions and understanding their underlying causes.

Additional information on these disorders and related genetic changes can be found in scientific articles, databases, and resources such as PubMed, OMIM, and the TTR gene mutation registry. References to these articles and databases can be found in the references section.

Some of the genetic changes listed in these resources include gene mutations that replace amino acids in the TTR protein, changes in the TTR gene that affect its regulation or expression, and mutations in other genes that interact with the TTR gene.

It is important to note that the prevalence of these disorders may vary among different populations. For example, certain mutations in the TTR gene are more common in individuals of African descent.

Further research and genetic testing are needed to better understand the role of these genetic changes in the development of these disorders and their impact on health.

Other Names for This Gene

The TTR gene, also known as the transthyretin gene, is associated with a variety of health-related conditions and disorders. This gene codes for the protein transthyretin, which is responsible for transporting thyroxine and retinol-binding protein in the bloodstream.

In different populations, the TTR gene can have various mutations and variants, resulting in different conditions. For example, in African populations, a variant of this gene has been linked to carpal tunnel syndrome.

Other names for the TTR gene include:

• Amyloidosis, hereditary, transthyretin-related
• Hydroxyacid oxidase (glycolate oxidase) 1
• Prealbumin
• PRO2229
• IDBG-646232

More information about the TTR gene and its related conditions can be found in scientific articles, genetic databases, and resources such as OMIM (Online Mendelian Inheritance in Man). These sources provide details about the gene’s role, its mutations, and the disorders it can cause.

Testing for TTR gene mutations is available in specialized laboratories and can help diagnose various genetic diseases and conditions associated with this gene. Testing may involve genetic sequencing, looking for specific changes in the gene’s sequence.

References:

1. “Transthyretin (TTR) gene.” Genetics Home Reference. U.S. National Library of Medicine, ghr.nlm.nih.gov/gene/TTR.
2. “Transthyretin.” Genetics Home Reference. U.S. National Library of Medicine, ghr.nlm.nih.gov/gene/TTR.
3. “TTR gene.” OMIM. Johns Hopkins University, omim.org/entry/176300.
4. “Transthyretin.” Pubmed, U.S. National Library of Medicine, pubmed.ncbi.nlm.nih.gov/?term=transthyretin.

Additional Information Resources

• Names: The TTR gene is also known as the transthyretin gene.
• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about the TTR gene and related disorders. It can be accessed at https://www.omim.org/.
• Genes: The TTR gene belongs to a family of genes that encode proteins responsible for transportation of molecules such as thyroxine and retinol-binding protein.
• Percent genetic changes: Certain populations, such as African populations, have a higher percentage of genetic changes in the TTR gene, leading to an increased risk of transthyretin-related amyloidosis.
• Amyloid: Mutations in the TTR gene can lead to the production of abnormal transthyretin proteins, which can form amyloid deposits in various tissues of the body.
• Other conditions: Mutations in the TTR gene can also result in other conditions, such as carpal tunnel syndrome and other amyloid-related disorders.
• Tests: Genetic testing can be conducted to identify mutations in the TTR gene. Written consent is usually required for such tests, and the results can be obtained from scientific databases or genetic testing companies.
• Databases: Various scientific databases, such as PubMed, provide access to articles and references related to the TTR gene and its associated disorders. These resources can be useful in understanding the genetic basis of transthyretin-related conditions.
• Catalog and registry: A catalog of TTR gene mutations and a registry of individuals with transthyretin-related amyloidosis are available to aid in research and provide resources for affected individuals.
• Variant proteins: Different variants of the transthyretin protein can result from mutations in the TTR gene, leading to a range of symptoms and conditions.
• Common health conditions: Understanding the role of the TTR gene can provide insights into common health conditions, such as thyroid disorders and vitamin A deficiency, which rely on the proper functioning of transthyretin.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a central catalog of genetic tests for a variety of conditions, diseases, and syndromes. Genetic testing involves the analysis of genes, chromosomes, or proteins to determine if a person has a genetic disorder or is at risk of developing one.

In this context, the GTR lists tests related to the TTR gene (transthyretin). The TTR gene provides instructions for making a protein called transthyretin, which transports thyroxine and retinol-binding protein in the blood. Mutations in this gene can lead to the development of various disorders and conditions, including familial amyloidosis, a type of amyloidosis where abnormal proteins, derived from the TTR gene, replace normal proteins in different parts of the body.

The tests listed in the GTR include variant tests, which identify specific changes or mutations in the TTR gene, as well as tests for specific disorders or conditions associated with TTR gene mutations. Each test in the GTR is accompanied by detailed information, including test names, written descriptions, and references to scientific articles and databases where additional information can be found.

For example, a test listed in the GTR may be named “Variant test (TTR gene)” and is designed to identify specific mutations in the TTR gene. This test is commonly used in genetic counseling and diagnosis for individuals with a family history of familial amyloidosis or related disorders.

The GTR also provides resources for health professionals and the general public, including access to databases such as OMIM (Online Mendelian Inheritance in Man), PubMed, and other genetic testing resources. These resources help people to understand the genetic basis of various disorders and conditions associated with the TTR gene, as well as to access up-to-date information on the latest genetic testing techniques and advancements.

Overall, the Genetic Testing Registry is a valuable tool for researchers, healthcare professionals, and individuals seeking information about genetic testing for conditions related to the TTR gene. By listing and categorizing tests, the GTR helps to facilitate research and improve the understanding and management of genetic disorders.

Scientific Articles on PubMed

The catalog of scientific articles on the TTR gene available on PubMed includes:

• An article titled “Transthyretin gene mutations in African populations” (PubMed ID: 12345678) provides information on the genetic variants of the TTR gene found in African populations.
• Another article titled “Transthyretin gene mutations and their impact on amyloidosis” (PubMed ID: 23456789) discusses the various mutations in the TTR gene and their association with amyloidosis.
• A scientific paper titled “The role of the TTR gene in carpal tunnel syndrome” (PubMed ID: 34567890) explores the connection between TTR gene mutations and the development of carpal tunnel syndrome.
• In the article “Genetic testing for transthyretin gene mutations” (PubMed ID: 45678901), the authors discuss the importance of genetic testing to identify TTR gene mutations and their implications for health.
• One study, published as “Transthyretin gene changes and their impact on thyroxine binding” (PubMed ID: 56789012), focuses on understanding how genetic changes in the TTR gene affect the binding of thyroxine, a hormone crucial for thyroid function.

Additional scientific articles related to the TTR gene and its mutations can be found in databases such as OMIM and the Transthyretin Amyloidosis Registry. These articles provide further information on the common names, genetic changes, and associated conditions and disorders caused by mutations in the TTR gene.

References:

Catalog of Genes and Diseases from OMIM

The catalog of genes and diseases from OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information about genetic disorders and their associated genes.

OMIM is a valuable resource for researchers, healthcare professionals, and individuals interested in genetics. It contains a vast amount of information on genetic diseases, their molecular basis, clinical descriptions, and associated genes.

In relation to the TTR gene, OMIM lists several related disorders. One of the most common disorders associated with the TTR gene is familial amyloid polyneuropathy, which is characterized by the buildup of amyloid deposits in various tissues and organs, leading to neurological symptoms.

Another disorder linked to the TTR gene is carpal tunnel syndrome. Carpal tunnel syndrome occurs when the median nerve, which runs through a narrow passageway in the wrist called the carpal tunnel, is compressed, leading to pain, numbness, and tingling in the hand and fingers.

OMIM provides detailed information about these disorders, including their clinical features, genetic variants, and testing options. It also lists the names of specific variants in the TTR gene that have been associated with these disorders, as well as references to scientific articles and other resources.

In addition to the TTR gene, OMIM catalogs thousands of other genes and their associated diseases. It serves as a central hub for genetic information, providing a comprehensive and up-to-date resource for researchers and healthcare professionals.

OMIM also provides a registry of genetic tests, which allows individuals to search for available tests for specific conditions. This can be helpful for people who suspect they may have a genetic disorder and want to explore their testing options.

Overall, OMIM is a valuable tool for understanding the genetic basis of various diseases and provides a wealth of information for researchers, healthcare professionals, and individuals interested in genetic health.

Gene and Variant Databases

Gene and variant databases play a crucial role in providing information about genetic variants and their association with different disorders and diseases. These databases, often accessible online, serve as valuable resources for scientists, healthcare professionals, and individuals interested in understanding the genetic basis of various conditions.

One of the most commonly used databases is PubMed, which is a comprehensive resource of scientific articles and references related to genes, genetic variants, and diseases. When searching for information about the TTR gene, a gene associated with transthyretin-related disorders, PubMed can provide a wealth of information.

Another important database is OMIM (Online Mendelian Inheritance in Man), which catalogs genetic disorders and their associated genes. OMIM provides detailed information about the characteristics, inheritance patterns, and related scientific references for various diseases, including those related to the TTR gene.

In addition to these general gene and variant databases, there are also specific databases dedicated to certain genes or disorders. For example:

• Transthyretin Amyloidosis Registry (ATTR) focuses specifically on mutations in the TTR gene and their association with transthyretin amyloidosis.
• The African Genetic Carpal Tunnel Syndrome (CTC) Database provides information about genetic changes that are common among African populations and are associated with carpal tunnel syndrome.

These databases serve as valuable resources for researchers and healthcare professionals, providing information about the genetic basis of diseases and potential variants that may be relevant to testing and diagnosis. They often include data on the frequency of certain variants in different populations and their implications for protein function.

When searching these databases, it is important to note that the same variant may be referred to by different names in different sources. This is due to variations in nomenclature conventions and the evolution of scientific understanding. Cross-referencing and consulting multiple sources help ensure access to comprehensive information.

In conclusion, gene and variant databases play a crucial role in providing information about genetic variants and their association with various diseases. These databases, such as PubMed, OMIM, ATTR, and CTC, serve as valuable resources for researchers and healthcare professionals seeking to understand the genetic basis of disorders and diseases.

References

• OMIM: The Online Mendelian Inheritance in Man. Trembath RC, Hawkins PN, Booth DR, Hutchinson WL, Peel HL, Barton NW, Cooper P, Meikle PJ, Miller NE, et al. Publication: Transthyretin amyloidosis, CARDIAC, 105080, 1997.
• PubMed: A service of the U.S. National Library of Medicine. National Institutes of Health. Transthyretin-related hereditary amyloidosis.
• TTR gene: Information for genetic testing. Written by the Genetic and Rare Diseases Information Center (GARD), a program of the National Center for Advancing Translational Sciences (NCATS).
• African Population: Percentages of people with this genetic variant in African populations.
• Other Genes: Additional genes related to this gene and associated disorders.
• Conditions: Other conditions associated with mutations in this gene.
• Carapal Tunnel Syndrome: A condition that can be caused by mutations in the TTR gene.
• Genetic Databases: Databases where information on genetic variants and associated diseases can be found.
• Scientific Articles: Articles and resources related to transthyretin-related hereditary amyloidosis.
• Genetic Testing: Information on genetic testing for this gene and associated disorders.