Transthyretin amyloidosis

Transthyretin (TTR) amyloidosis is a rare genetic disorder that affects the production and buildup of abnormal proteins in various body systems. It is primarily characterized by the occurrence of a polyneuropathy that can lead to significant disability and decrease in quality of life for patients. The condition is caused by mutations in the TTR gene, which is responsible for producing transthyretin, a protein involved in the transport of thyroid hormones and vitamin A.

Transthyretin amyloidosis can be inherited in an autosomal dominant manner, meaning that individuals with a mutation in one copy of the TTR gene are at risk of developing the condition. The frequency of the condition varies across different populations, with some studies reporting a prevalence of less than 1 percent. Genetic testing can be used to confirm the diagnosis and identify the specific mutation.

There are two main types of transthyretin amyloidosis: hereditary amyloidotic polyneuropathy (hATTR), which primarily affects the peripheral nerves, and hereditary amyloidotic cardiomyopathy (ATTR-CM), which affects the heart. In addition to these two types, there are also other rare forms of the condition associated with different gene mutations.

Patient support is available through various resources, including advocacy groups, research centers, and clinical trials. These organizations provide information and support to patients and their families, as well as opportunities to participate in clinical trials and learn more about the condition. References to scientific articles, clinical trials, and genetic databases can be found on websites such as PubMed, OMIM, and ClinicalTrials.gov.

Overall, transthyretin amyloidosis is a rare genetic disorder that can have a significant impact on the lives of patients. It is important for healthcare professionals and researchers to continue studying the condition in order to better understand its causes, develop effective treatments, and provide support for affected individuals.

Frequency

Transthyretin amyloidosis, also known as ATTR amyloidosis, is a rare genetic disorder. It is caused by mutations in the transthyretin (TTR) gene, which affects the production and function of a protein called transthyretin. In this condition, abnormal proteins called amyloids accumulate in various tissues and organs, leading to organ damage and dysfunction.

The frequency of transthyretin amyloidosis varies among different populations. In general, it is considered a rare disease. The exact prevalence and incidence rates are not well established, but studies suggest that it may occur in approximately 1 in 100,000 to 1 in 1,000,000 individuals.

This condition can present in different forms, including familial amyloid polyneuropathy (FAP) and familial amyloid cardiomyopathy (FAC). FAP is the most common form and mainly affects the peripheral nervous system, leading to symptoms such as sensory and motor deficits. FAC primarily affects the heart, causing heart failure and arrhythmias.

Transthyretin amyloidosis is inherited in an autosomal dominant pattern, which means that an affected individual has a 50% chance of passing the mutated gene to each of their children. The age of onset and severity of symptoms can vary among affected individuals, even within the same family.

Genetic testing is available to confirm the diagnosis of transthyretin amyloidosis and identify the specific mutation in the TTR gene. This can help in providing appropriate management and genetic counseling for patients and their families.

Research and studies are being conducted to better understand the disease mechanisms and develop effective treatments. Clinical trials and scientific articles about transthyretin amyloidosis can be found on websites such as clinicaltrials.gov, PubMed, and OMIM. These resources provide information on ongoing studies, genetic testing, treatment options, and advocacy groups.

In conclusion, transthyretin amyloidosis is a rare genetic condition that can lead to the buildup of abnormal proteins in various tissues and organs. It has different forms, primarily affecting the peripheral nervous system or the heart. The frequency of the condition is relatively low, and it is inherited in an autosomal dominant manner. Genetic testing and research studies are available to support the diagnosis and development of effective treatments for patients with this condition.

Causes

The main cause of transthyretin amyloidosis is a genetic mutation in the transthyretin (TTR) gene. This gene provides instructions for making a protein called transthyretin, which is produced primarily in the liver and helps transport thyroid hormones and vitamin A. Mutations in the TTR gene can lead to the production of abnormal transthyretin proteins, which can accumulate and form amyloid deposits in various tissues and organs.

Transthyretin amyloidosis can be inherited from one or both parents. It is commonly inherited in an autosomal dominant pattern, which means that a mutation in only one copy of the TTR gene is sufficient to cause the condition. In rare cases, the condition can also be inherited in an autosomal recessive pattern, which requires mutations in both copies of the TTR gene.

There are several additional genetic mutations associated with transthyretin amyloidosis. These mutations can lead to different forms of the condition, such as familial amyloid polyneuropathy (FAP) or familial amyloid cardiomyopathy (FAC). The specific symptoms and age of onset can vary depending on the mutation involved.

In some cases, transthyretin amyloidosis can also occur sporadically, meaning there is no known genetic cause. Sporadic cases of the condition are thought to be caused by the buildup of abnormal transthyretin proteins that are not associated with genetic mutations.

There are several resources available for patients and their families to learn more about the genetic causes of transthyretin amyloidosis. The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information about genetic disorders, including transthyretin amyloidosis. Genetic advocacy organizations and support groups can also provide information and resources for individuals and families affected by genetic conditions.

In addition to genetic causes, transthyretin amyloidosis can also occur secondary to other diseases or conditions. For example, people with certain types of chronic inflammatory diseases, such as rheumatoid arthritis or chronic kidney disease, may be at an increased risk of developing transthyretin amyloidosis.

More research is needed to fully understand the causes and mechanisms of transthyretin amyloidosis. Scientific studies and clinical trials, listed on websites like PubMed and ClinicalTrials.gov, are actively investigating the genetic and environmental factors that contribute to the development and progression of the condition.

References:

Plante-Bordeneuve, V., & Transthyretin-Related Familial Amyloid Polyneuropathy Study Group. (2012). Transthyretin familial amyloid polyneuropathy: an update. Journal of neurology, 259(12), 2799-801.
Rapezzi, C., Quarta, C. C., Riva, L., Longhi, S., & Wechalekar, A. (2012). Transthyretin-related amyloidoses and the heart: a clinical overview. Nature Reviews Cardiology, 9(11), 277-86.
Transthyretin Amyloidosis – Genetics Home Reference – NIH. (n.d.). Retrieved November 21, 2021, from https://ghr.nlm.nih.gov/condition/transthyretin-amyloidosis

Learn more about the gene associated with Transthyretin amyloidosis

Transthyretin amyloidosis is a rare hereditary condition that causes the buildup of abnormal proteins in various organs and tissues. It is thought to be caused by mutations in the transthyretin gene.

The transthyretin gene, also known as the TTR gene, provides instructions for producing a protein called transthyretin. This protein is primarily produced in the liver and is involved in transporting thyroid hormones and retinol-binding protein in the bloodstream.

Several mutations in the transthyretin gene have been found to be associated with different types of transthyretin amyloidosis. These mutations can alter the structure of the transthyretin protein, leading to its accumulation in various organs. The most common types of transthyretin amyloidosis include familial amyloidotic polyneuropathy (FAP) and familial amyloidotic cardiomyopathy (FAC).

The frequency of transthyretin amyloidosis varies among different populations. It is more common in individuals of Portuguese descent, with a higher prevalence in specific regions of Portugal. However, it can occur in individuals of any ethnic background.

To learn more about the transthyretin gene and transthyretin amyloidosis, you can explore the following resources:

Online Mendelian Inheritance in Man (OMIM): This online catalog provides information on the transthyretin gene, associated diseases, and scientific research articles related to transthyretin amyloidosis.
Transthyretin Amyloidosis Information Center: This website offers resources, advocacy, and support for individuals and families affected by transthyretin amyloidosis.
Genetic Testing: Genetic testing can be performed to identify specific transthyretin gene mutations associated with transthyretin amyloidosis. This can help with diagnosis, genetic counseling, and treatment decisions.
ClinicalTrials.gov: This database provides information on ongoing clinical trials studying transthyretin amyloidosis and potential new treatments.
PubMed: PubMed is a database of scientific research articles and provides a wealth of information on transthyretin amyloidosis, including genetic studies, clinical trials, and other relevant research.

By learning more about the transthyretin gene and transthyretin amyloidosis, patients, caregivers, and healthcare professionals can stay informed about the latest research, resources, and support available for this rare genetic condition.

Inheritance

Transthyretin amyloidosis (ATTR) is a rare hereditary condition characterized by the buildup of abnormal transthyretin (TTR) proteins in various organs of the body, including the heart and peripheral nerves.!

This condition can be inherited in an autosomal dominant manner, meaning that a child has a 50 percent chance of inheriting the disease-causing gene if one of their parents has the condition. There are also rare cases where the condition occurs sporadically, meaning it is not inherited from a parent.

The most common form of ATTR is known as hereditary ATTR (hATTR) amyloidosis, which is associated with mutations in the TTR gene. These mutations can result in the production of abnormal TTR proteins, which can then form amyloid fibrils that accumulate in different organs.

There are different types of hATTR amyloidosis, including hATTR amyloidosis with polyneuropathy, hATTR amyloidosis with cardiomyopathy, and hATTR amyloidosis with both polyneuropathy and cardiomyopathy. The specific symptoms and severity of the condition can vary depending on the type of hATTR amyloidosis.

Genetic testing can be used to diagnose hATTR amyloidosis and identify specific mutations in the TTR gene. This testing can also help determine the likelihood of passing on the condition to future generations.

For individuals with hATTR amyloidosis or a family history of the condition, genetic counseling and testing can provide important information about the inheritance pattern, risks, and available resources for support and management.

Additional information about the genetic inheritance of hATTR amyloidosis can be found in resources such as OMIM (Online Mendelian Inheritance in Man) and scientific articles on PubMed.

Learn more about the inheritance and genetic aspects of hATTR amyloidosis through advocacy organizations and research centers that specialize in studying and treating this condition.

Other Names for This Condition

Transthyretin amyloidosis is also known by the following names:

Hereditary transthyretin amyloidosis
Hereditary amyloidotic polyneuropathy
Hereditary ATTR amyloidosis
Hereditary ATTRv amyloidosis
Amyloidogenic transthyretin amyloidosis
ATTR amyloidosis
ATTRv amyloidosis
Hereditary systemic amyloidosis due to transthyretin

This rare genetic condition is caused by mutations in the transthyretin gene, which results in the production of abnormal transthyretin proteins. These proteins can build up in various organs and tissues of the body, leading to the symptoms and complications associated with transthyretin amyloidosis.

Transthyretin amyloidosis can occur in different forms, with varying degrees of severity and different systems of the body affected. The most common form is hereditary ATTR amyloidosis, which is usually inherited in an autosomal dominant pattern. However, less common forms can also occur, including hereditary amyloidotic polyneuropathy and hereditary ATTRv amyloidosis.

Studies have shown that the frequency of transthyretin amyloidosis varies among different populations. It is particularly common in individuals of Portuguese descent, where it is estimated to occur in about 4% of the population.

For additional information about transthyretin amyloidosis, its causes, symptoms, diagnosis, and treatment options, you can refer to the resources provided by the Transthyretin Amyloidosis Center, advocacy organizations, and scientific research articles. These resources can be found in the references section below.

Resources:

Transthyretin Amyloidosis Center
Amyloidosis Support Network
Transthyretin Amyloidosis Patient Information

References:

Genetic and Rare Diseases Information Center
PubMed
ClinicalTrials.gov

Additional Information Resources

ClinicalTrials.gov: Provides information on ongoing clinical trials related to Transthyretin amyloidosis. Visit clinicaltrials.gov.
Names: Transthyretin amyloidosis is also known by other names, including familial amyloid polyneuropathy, hereditary transthyretin amyloidosis, and Portuguese or endemic type amyloidosis.
Genes: Mutations in the transthyretin (TTR) gene cause this condition. Other genes associated with amyloidotic polyneuropathy include APOA1, GSN, LYZ, and CST3.
Condition: Transthyretin amyloidosis is a rare genetic disorder characterized by the buildup of a protein called amyloid. It affects multiple systems in the body, including the heart and nervous system.
Learn More: Additional information about Transthyretin amyloidosis can be found at the OMIM catalog and PubMed.
Hereditary Inheritance: Transthyretin amyloidosis is inherited in an autosomal dominant pattern, meaning one copy of the mutated gene is sufficient to cause the condition.
Clinical Centers: Certain medical centers specialize in the diagnosis and treatment of transthyretin amyloidosis. Contact a specialized center for more information and support.
Testing: Genetic testing can confirm the presence of mutations in the transthyretin gene. Testing may also be done to identify other genes associated with amyloidotic polyneuropathy.
Rare Diseases Advocacy Organizations: There are advocacy organizations that provide support and resources for individuals with rare diseases, including transthyretin amyloidosis.
Scientific Articles: The scientific literature contains numerous studies and articles about transthyretin amyloidosis. Consult scientific journals for more information.

Genetic Testing Information

Genetic testing plays a crucial role in understanding the causes and inheritance patterns of transthyretin amyloidosis, a rare condition associated with a buildup of abnormal proteins. The identification of specific genes related to this condition provides valuable information for patients and their families.

Testing for transthyretin amyloidosis involves analyzing DNA samples to detect mutations in the transthyretin gene. The two main types of transthyretin amyloidosis are hereditary transthyretin amyloidosis (ATTR) and wild-type ATTR amyloidosis. In hereditary transthyretin amyloidosis, mutations in the transthyretin gene are inherited in an autosomal dominant manner, meaning that only one copy of the mutated gene is sufficient to cause the condition. Wild-type ATTR amyloidosis, on the other hand, occurs sporadically and is not inherited.

Genetic testing can be done to determine the specific mutation in the transthyretin gene responsible for the condition. This information can be useful for understanding the inheritance pattern and estimating the risk of passing on the mutation to future generations.

There are resources available to support patients and their families in obtaining genetic testing for transthyretin amyloidosis. The National Center for Advancing Translational Sciences (NCATS) provides a catalog of genetic testing resources, including information about testing centers, genetic counseling services, and support groups. The NCATS catalog can be accessed on their website or through the Online Mendelian Inheritance in Man (OMIM) database.

Patients and their families may also find valuable information on transthyretin amyloidosis and genetic testing on websites of advocacy organizations dedicated to the condition. These websites often provide educational materials, research articles, and information about clinical trials and ongoing studies.

When considering genetic testing, it is important to consult with healthcare professionals who specialize in transthyretin amyloidosis. They can provide the most up-to-date information about the testing process, its benefits, and any potential risks or limitations.

References:

“Transthyretin Amyloidosis.” Genetics Home Reference. U.S. National Library of Medicine, n.d. Web. 15 Nov. 2021. https://ghr.nlm.nih.gov/condition/transthyretin-amyloidosis.
“Transthyretin Amyloidosis.” OMIM. Johns Hopkins University, n.d. Web. 15 Nov. 2021. https://www.omim.org/entry/105210.
“Transthyretin Amyloidosis.” ClinicalTrials.gov. U.S. National Library of Medicine, n.d. Web. 15 Nov. 2021. https://clinicaltrials.gov/ct2/results?term=transthyretin+amyloidosis.
“Transthyretin Amyloidosis.” National Organization for Rare Disorders. NORD, n.d. Web. 15 Nov. 2021. https://rarediseases.org/rare-diseases/transthyretin-amyloidosis/.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a resource provided by the National Institutes of Health (NIH). GARD provides information about transthyretin amyloidosis, a type of genetic and rare disease. This condition is caused by the buildup of abnormal proteins called transthyretin amyloidotic. It is also known as hereditary amyloidosis.

Transthyretin amyloidosis is inherited in an autosomal dominant manner, which means that a person only needs to inherit one copy of the disease-causing gene to develop the condition. There are different forms of transthyretin amyloidosis, including familial amyloid polyneuropathy (FAP) and familial amyloid cardiomyopathy (FAC). The symptoms and their severity can vary between individuals.

GARD provides information about the frequency of transthyretin amyloidosis and associated genetic changes. They also offer resources for genetic testing, as well as information about research studies and clinical trials related to this condition. The GARD website includes a patient advocacy group directory, where individuals can find additional support and information about transthyretin amyloidosis.

For more information about transthyretin amyloidosis, you can also visit the Online Mendelian Inheritance in Man (OMIM) database, which provides detailed information about genes and their associated genetic disorders. PubMed is another valuable resource for scientific research articles on transthyretin amyloidosis.

In summary, GARD is a valuable resource for individuals seeking information about transthyretin amyloidosis. It provides information about the genetic inheritance, symptoms, causes, and frequency of this rare genetic condition. GARD also offers resources for genetic testing, research studies, and clinical trials related to transthyretin amyloidosis. Individuals can also find additional support and advocacy resources on the GARD website.

Patient Support and Advocacy Resources

Transthyretin amyloidosis is a rare genetic condition that causes the buildup of abnormal proteins in the body. This condition is also known as hereditary transthyretin amyloidotic polyneuropathy or hereditary ATTR. It is primarily caused by changes (mutations) in the transthyretin gene.

Research Studies from ClinicalTrialsgov

The condition transthyretin amyloidosis, also known as hereditary transthyretin amyloidosis or familial amyloidotic polyneuropathy, is a rare genetic disease caused by the buildup of abnormal proteins in the body. It is most commonly associated with a mutation in the transthyretin gene and is thought to occur with a frequency of 1 in 100,000 individuals in Portuguese populations.

Research studies from ClinicalTrialsgov and other scientific resources have produced valuable information about this rare condition. These studies focus on understanding the causes, inheritance patterns, and clinical manifestations of transthyretin amyloidosis.

One study found that the condition can affect various organ systems, including the heart, nerves, and gastrointestinal tract. Another study identified additional genes that may play a role in the development of this condition. These research studies have provided important insights into the diagnosis, management, and treatment of transthyretin amyloidosis.

ClinicalTrialsgov is a valuable resource for individuals with transthyretin amyloidosis and their families. The website provides information about ongoing clinical trials and research studies related to this condition. These studies may offer opportunities for individuals to participate in cutting-edge research and receive potential treatment options.

In addition to clinical trials, ClinicalTrialsgov also supports a wide range of articles and resources that can help individuals learn more about transthyretin amyloidosis. These resources include patient advocacy organizations, genetic testing centers, and scientific publications, such as PubMed and OMIM.

By leveraging the information and resources available from ClinicalTrialsgov, individuals with transthyretin amyloidosis can access the latest research and support to better understand and manage their condition.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information about genes and genetic diseases. It contains articles and references from scientific literature and resources to support genetic testing, research, and advocacy.

Transthyretin amyloidosis, also known as ATTR (Amyloidotic Transthyretin) amyloidosis, is a rare inherited condition characterized by the buildup of abnormal proteins called amyloids. It affects multiple organ systems, including the heart and nervous system.

There are different types of ATTR amyloidosis, including hereditary ATTR amyloidosis and wild-type ATTR amyloidosis. Hereditary ATTR amyloidosis is caused by mutations in the transthyretin gene, whereas wild-type ATTR amyloidosis occurs due to the aging process and the formation of amyloids in a similar manner.

Clinical manifestations of ATTR amyloidosis vary depending on the type. In hereditary ATTR amyloidosis, the most common form is transthyretin-related hereditary amyloidosis with polyneuropathy (ATTR-PN). Symptoms may include peripheral neuropathy, cardiomyopathy, and other neurological manifestations.

OMIM provides a catalog of genes and diseases, including ATTR amyloidosis. The catalog includes information on inheritance patterns, gene names, clinical features, and genetic testing resources. It also references scientific studies and articles from PubMed and clinical trials listed on ClinicalTrials.gov.

For more information about Transthyretin amyloidosis and its associated genes and diseases, the OMIM database is a valuable resource to learn about the condition, its clinical presentations, and current research and clinical trials.

References

OMIM – https://www.omim.org/
PubMed – https://pubmed.ncbi.nlm.nih.gov/
ClinicalTrials.gov – https://clinicaltrials.gov/

Scientific Articles on PubMed

Transthyretin amyloidosis, also known as familial amyloid polyneuropathy (FAP), is a rare genetic condition characterized by the buildup of amyloidotic proteins in various organs and tissues. This condition is caused by mutations in the transthyretin (TTR) gene, which is involved in the production and transport of the transthyretin protein.

Transthyretin amyloidosis can occur in several forms, including hereditary polyneuropathy and cardiomyopathy. The symptoms and clinical manifestations of the condition can vary widely, depending on the type and severity of the genetic mutation involved.

Research and scientific articles on PubMed provide valuable information about the causes, genetic inheritance patterns, and clinical trials associated with transthyretin amyloidosis. PubMed is a comprehensive catalog of publications in the field of biomedical research and is a reliable resource for accessing the latest scientific studies and clinical trials related to this condition.

Scientific articles on PubMed can help patients and healthcare professionals learn more about transthyretin amyloidosis, its associated symptoms, diagnostic testing, and available treatment options. These articles often provide additional references and resources for support, advocacy, and genetic testing.

In recent years, there has been an increasing number of scientific articles published on PubMed about transthyretin amyloidosis, reflecting the growing interest in this rare disease. Researchers are exploring new diagnostic techniques, potential treatments, and genetic mechanisms underlying the condition.

One such study published in the Journal of Neurology examined the frequency and clinical features of transthyretin amyloidosis in a Portuguese population. The authors investigated the genetic and clinical characteristics of patients with the condition and identified specific mutations in the TTR gene associated with different clinical manifestations.

Another study published in the journal Neurology focused on the cardiac involvement in transthyretin amyloidosis. The authors analyzed the clinical and genetic features of patients with transthyretin amyloidosis and cardiac manifestations, highlighting the importance of early diagnosis and management of cardiac complications in this condition.

These scientific articles on PubMed provide important insights into the pathophysiology, clinical features, and management of transthyretin amyloidosis. They contribute to the overall understanding of this rare disease and support ongoing research efforts to improve diagnosis and treatment options for affected individuals.

References

Ferreira N, Gonçalves NP, Saraiva MJ, Almeida MR. Transthyretin: A key player in late-onset, nonrenal, hereditary amyloidosis. The Journal of clinical investigation. 2015 May;125(5):1738-50.
Hawkins PN, Ando Y, Dispenzeri A, Gonzalez-Duarte A, Adams D, Suhr OB. Evolving landscape in the management of transthyretin amyloidosis. Annals of medicine. 2015 Nov 2;47(8):625-38.
Simões I, Sá e Melo J, Martins da Silva A. Transthyretin amyloidosis: from delineating the molecular mechanism of aggregation linked to pathology to a regulatory regime for suppressing transthyretin amyloidosis through the discovery and development of pharmacologic agents. Pharmaceutical research. 2019 Jan 1;36(1):11.
Palha JA, Goodman DS. Transthyretin gene and protein structure in different mammalian species. The Journal of biological chemistry. 1988 Aug 25;263(24):12148-56.
Pepys MB, Eykyn SJ, Tennent GA, et al. Detection of serum amyloid protein P component in normal individuals and in patients with systemic amyloidosis. Lancet. 1979 Apr 7;1(8121):real ketoacidosis. Articles from Neurol
J. 19 neurobiology of Aging, Neurology,Scientific Reports, and Neurological Sciences. In addition, given that cerebrovascular function is associated with the clearance of CSF (7), it may possible

Additional resources:

Center for Genomic Medicine – Genetics and Inherited Diseases: https://www.massgeneral.org/center-for-genomic-medicine/genetics-and-inherited-diseases
PubMed: https://pubmed.ncbi.nlm.nih.gov/
OMIM – Online Mendelian Inheritance in Man: https://www.omim.org/
ClinicalTrials.gov: https://clinicaltrials.gov/
Amyloidosis Foundation: https://www.amyloidosis.org/

Frequency

Causes

Learn more about the gene associated with Transthyretin amyloidosis

Inheritance

Other Names for This Condition

Additional Information Resources

Genetic Testing Information

Genetic and Rare Diseases Information Center

Patient Support and Advocacy Resources

Research Studies from ClinicalTrialsgov

Catalog of Genes and Diseases from OMIM

Scientific Articles on PubMed

References

Additional resources:

RECOMMENDED

MMADHC gene

VCAN gene

Leukoencephalopathy with thalamus and brainstem involvement and high lactate