The HTT gene, also known as the huntingtin gene, is a gene that is associated with Huntington’s disease. This gene codes for a protein called huntingtin, which plays a role in the normal function of the brain.
Huntington’s disease is a genetic disorder that is characterized by the progressive breakdown of nerve cells in the brain. It is caused by an abnormal repeat of a DNA sequence within the HTT gene. This repeat of the DNA sequence leads to the production of an abnormal form of the huntingtin protein, which in turn causes the characteristic symptoms of Huntington’s disease.
Researchers have identified additional functions of the HTT gene, including its role in the regulation of other genes and proteins. Changes within the HTT gene have also been found to be related to other conditions, such as certain types of cancer and neurodegenerative disorders.
Scientific research on the HTT gene has led to the development of genetic testing and diagnostic tools for Huntington’s disease. These tests can detect the presence of the abnormal repeat in the HTT gene and provide information about an individual’s risk of developing the disorder. Additionally, databases and registries have been created to catalog HTT gene variants and provide resources for researchers and healthcare professionals.
References to the HTT gene can be found in scientific articles, databases, and other resources, such as OMIM and PubMed. These references provide valuable information on the role of the HTT gene in health and disease, as well as potential therapeutic targets for treating Huntington’s disease and related conditions.
Health Conditions Related to Genetic Changes
Genetic changes can play a significant role in the development of various health conditions. These changes, also known as genetic mutations or variants, can significantly impact the proper functioning of genes and proteins within the body, leading to a range of diseases and disorders. In this article, we will explore some health conditions that are related to genetic changes and their implications for individuals.
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Huntington’s Disease
Huntington’s disease is a genetically inherited disorder caused by a mutation in the HTT gene. This gene encodes for a protein called huntingtin, which plays a crucial role in brain function. In individuals with Huntington’s disease, there is an abnormal repetition of a DNA segment known as the CAG repeat within the HTT gene. This repetition causes the production of abnormal huntingtin proteins, which accumulate in the brain and lead to the progressive degeneration of nerve cells.
Huntington’s disease is characterized by a wide range of symptoms, including involuntary movements, cognitive decline, and psychiatric disturbances. The severity and onset of symptoms can vary widely among affected individuals, with some individuals experiencing symptoms in their 30s or 40s, while others may not develop symptoms until later in life.
Testing for the HTT gene mutation can be done through genetic testing. Genetic counselors, clinicians, and other healthcare professionals can provide resources and information on the testing process, as well as the implications and management of the disease.
Additional resources and information on Huntington’s disease can be found in various databases and scientific publications. The OMIM (Online Mendelian Inheritance in Man) catalog, PubMed, and other genetic databases are valuable sources of information for clinicians, researchers, and individuals seeking further knowledge on the disease.
Other Health Conditions
Genetic changes can also contribute to the development of numerous other health conditions. There are thousands of diseases and disorders that are linked to genetic variations, affecting various organs, systems, and functions within the body. Some of these conditions include:
- Cystic fibrosis
- Down syndrome
- Sickle cell anemia
- Phenylketonuria
- Hereditary breast and ovarian cancer
Many of these conditions have well-established genetic tests that can identify specific mutations or variants associated with the disease. These tests can be used for diagnostic purposes, as well as for carrier screening and genetic counseling.
Understanding the genetic basis of these health conditions is crucial for developing targeted therapies and improving patient outcomes. Ongoing research and advancements in genomics continue to expand our knowledge of the role of genetics in disease and open new doors for therapeutic interventions.
Conclusion
Genetic changes are key players in the development of various health conditions. These changes can disrupt the normal function of genes and proteins, leading to a wide range of diseases and disorders. Huntington’s disease and other genetic conditions highlight the importance of genetic testing and research in understanding and managing these conditions. By exploring the genetic basis of health conditions, we can strive towards better prevention, diagnosis, and treatment strategies for individuals affected by these genetic changes.
Huntington disease
Huntington disease, also known as Huntington’s disease or HD, is a genetic disorder that affects the brain. It is caused by mutations in the HTT gene, which stands for huntingtin.
The HTT gene is responsible for producing the huntingtin protein, which plays a role in the normal function of brain cells. However, in individuals with Huntington disease, the gene contains an abnormal repeating series of three DNA building blocks, known as a CAG repeat.
This CAG repeat is unstable and can expand in size as it is passed from one generation to the next. As the repeat expands, it increases the production of an altered form of the huntingtin protein. This mutated protein causes damage to the brain cells, leading to the symptoms of Huntington disease.
The symptoms of Huntington disease can vary widely from person to person, but commonly include involuntary movements, difficulty with coordination and balance, and changes in mood and thinking abilities. The age at which symptoms appear can also vary, with some individuals experiencing onset in childhood or adolescence, while others may not develop symptoms until middle age or later.
| Website | Description |
|---|---|
| Online Mendelian Inheritance in Man (OMIM) | A comprehensive catalog of human genes and genetic disorders, including Huntington disease. Provides information on the genetic changes associated with the disease. |
| PubMed | A database of scientific articles on Huntington disease. Includes research on the genetic and molecular basis of the disease, as well as clinical studies and therapeutic approaches. |
| ClinVar | A public archive of genomic variants and their clinical significance. Contains information on genetic changes associated with Huntington disease. |
| Genetics Home Reference | A consumer-friendly resource that provides information on the genetic basis of Huntington disease, its symptoms, and available tests and treatments. |
Testing for Huntington disease can be done using genetic tests that detect the presence of the abnormal CAG repeat in the HTT gene. These tests can help confirm a diagnosis in individuals with symptoms of the disease, as well as provide information for genetic counseling and family planning.
Overall, understanding the role of the HTT gene and the changes associated with Huntington disease is important for further research on therapeutic approaches and improving the health and well-being of individuals affected by this disorder.
Other Names for This Gene
Testing, series, variant, scientific, and additional function times to this gene
- Gene testing
- Genetic testing
- Huntington disease modifier gene HTT
- Huntington disease protein
- Huntingtin
- Huntingtin protein
- Huntingtin protein homolog
- Huntington’s
- Huntington’s protein
- HD protein
- HD
The HTT gene, also known by different names listed above, plays a critical role in the development of Huntington’s disease. This gene is associated with changes in the HTT protein, which increases the risk of developing the disorder. Various genetic testing techniques and resources, such as databases like PubMed and OMIM, provide information on the HTT gene and its related conditions. Additionally, scientific articles, genetic registries, and health resources catalog the therapeutic and clinical tests for Huntington’s disease and other diseases related to the HTT gene. Further research on the functions and proteins of the HTT gene contributes to understanding its role in physiological processes and potential treatments for Huntington’s disease.
Additional Information Resources
- Huntington’s Disease Gene – This website provides comprehensive information on the HTT gene, including its role in the development of Huntington’s disease. It discusses the genetic changes and the function of HTT proteins in detail. The website also offers links to other resources related to Huntington’s disease and genetic testing.
- Huntington’s Disease Genetic Testing – The Genetic Testing Registry (GTR) provides a catalog of genetic tests for Huntington’s disease. It lists the different types of genetic tests available, including DNA analysis and repeat length testing. The GTR offers detailed information on the availability, purpose, and methodology of each test.
- Huntington’s Disease Databases – There are several databases that contain information on Huntington’s disease and the HTT gene. These databases, such as OMIM (Online Mendelian Inheritance in Man) and ClinVar, provide comprehensive references and scientific articles related to this genetic disorder. They offer valuable resources for researchers, clinicians, and individuals seeking information on Huntington’s disease.
- Related Genes and Variants – Apart from the HTT gene, there are other genes and genetic variants that play a role in Huntington’s disease. These genes and variants have been extensively studied and are listed in various scientific articles. PubMed is a reliable source for finding these articles and references, providing further insight into the genetic and molecular basis of Huntington’s disease.
- Health Conditions and Huntington’s Disease – Huntington’s disease is associated with several health conditions. Understanding these associations is crucial for comprehensive patient care. Physiol Genet is a series of scientific articles that explores the relationship between Huntington’s disease and various health conditions. It highlights the impact of the HTT gene on other physiological processes and provides valuable information for clinicians.
Tests Listed in the Genetic Testing Registry
The HTT gene, also known as the huntingtin gene, is associated with Huntington’s disease, a genetic disorder that affects the brain’s function. The Genetic Testing Registry (GTR) lists various tests related to this gene and its associated diseases.
The GTR is a database that provides information on genetic tests for a wide range of conditions. It includes tests for different variants of the HTT gene and related proteins, as well as tests for other genes that may play a role in Huntington’s disease.
The GTR lists tests for different disease-causing variants of the HTT gene. These tests can help determine the presence of specific variants that are associated with Huntington’s disease. The database also includes tests for other genes that may be relevant to Huntington’s disease or related conditions.
In addition to the information on genetic tests, the GTR also provides resources related to Huntington’s disease and genetic testing in general. This includes links to scientific articles and publications from PubMed and OMIM, as well as therapeutic and health resources for individuals with Huntington’s disease.
The GTR organizes the information into series, each focusing on a specific aspect of the HTT gene and its associated diseases. This includes information on the role of the HTT gene in Huntington’s disease, the repeat expansion that leads to the disorder, and the function of the HTT protein in normal physiological processes.
Within each series, the GTR lists tests for different disease-causing variants of the HTT gene. It provides detailed information on the specific variants, including their names, the associated conditions they cause, and the testing methods used to identify them.
The GTR is constantly updated with changes and new information, as scientific understanding of the HTT gene and Huntington’s disease evolves. This ensures that the database remains a valuable resource for clinicians, researchers, and individuals seeking information on genetic testing for Huntington’s disease.
| Test Name | Related Conditions |
|---|---|
| Variant-specific DNA test for Huntington disease | Huntington disease |
| Huntingtin gene (HTT) analysis | Huntington disease |
| Huntingtin repeat primed PCR analysis | Huntington disease |
| Huntingtin gene (HTT) sequencing | Huntington disease |
| HTT repeat expansion analysis | Huntington disease |
| HTT gene deletion/duplication analysis | Huntington disease |
Scientific Articles on PubMed
The HTT gene, also known as the huntingtin gene, plays a crucial role in the development of Huntington’s disease. It codes for the huntingtin protein, which is involved in various cellular functions. Mutations or repeat expansions in this gene can lead to the production of abnormal huntingtin proteins, causing the disorder.
On the PubMed database, you can find numerous scientific articles related to the HTT gene and its role in Huntington’s disease. These articles provide valuable information on the function of the gene, changes in its structure, and potential therapeutic approaches.
The PubMed database is a comprehensive registry of scientific articles and references from various health and medical journals. It is a valuable resource for researchers, clinicians, and individuals interested in understanding and studying Huntington’s disease.
In addition to the HTT gene, other related genes and proteins are also discussed in these scientific articles. These include genes involved in the regulation of huntingtin protein production and genes associated with other neurodegenerative diseases and conditions.
By searching PubMed, you can access a series of articles that provide information on the HTT gene, its function, and its role within the context of Huntington’s disease. These articles can help researchers and clinicians better understand the disease and develop potential therapeutic interventions.
The PubMed database includes scientific articles that focus on testing and diagnosing Huntington’s disease. These articles discuss various tests and genetic assays used to identify changes in the HTT gene, such as repeat expansions or mutations. They also provide information on the clinical manifestation and progression of the disorder.
Scientific articles listed on PubMed also provide information on the genetic changes associated with Huntington’s disease. They explore the effect of repeat expansions in the HTT gene on protein production and the development of the disorder. These articles contribute to our understanding of the disease at a molecular level.
The catalog of articles on PubMed includes information on other resources and databases that researchers can use to study Huntington’s disease. These resources may provide additional data on the HTT gene, such as sequence variations, genetic variants, and associated diseases or conditions.
In conclusion, the scientific articles available on PubMed provide a wealth of information on the HTT gene and its role in Huntington’s disease. Researchers and clinicians can access this information to expand their understanding of the disease and develop new therapeutic approaches.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive and authoritative database that catalogs genes and diseases. It provides valuable resources for scientific research, genetic testing, and health-related information.
Within OMIM, various databases are listed that focus on different genetic disorders and genes. OMIM serves as a registry for genetic disorders, gathering information on genes related to specific diseases. This information is crucial for understanding the genetic basis of diseases and the role that genes play in their development.
The catalog includes genes associated with a wide range of conditions, including the well-known Huntington’s disease. Huntington’s disease is a genetic disorder caused by changes in the HTT gene. This gene produces a protein that is involved in the normal function of brain cells. In Huntington’s disease, the HTT gene contains an excessive number of repeats, leading to the production of mutant proteins that impair brain function.
In addition to genes and diseases, OMIM provides information on genetic variants and their effects. These variants can have different impacts on an individual’s health, ranging from benign to disease-causing. OMIM also includes references to scientific articles and resources, such as PubMed, that provide further information on specific genes and diseases.
The catalog serves as a valuable resource for genetic testing laboratories and researchers, as it provides a comprehensive list of genes associated with different diseases. Genetic testing is used to identify mutations in specific genes that are known to be linked to particular conditions. This information helps in diagnosing individuals with genetic disorders and understanding the underlying causes of their conditions.
In conclusion, the catalog of genes and diseases from OMIM plays a crucial role in advancing our understanding of genetic disorders. It provides a wealth of information on different genes, their functions, and their role in various diseases. This information is essential for scientific research, genetic testing, and the development of therapeutic strategies for managing and treating genetic disorders.
Gene and Variant Databases
In the field of genetic research, gene and variant databases play a vital role in cataloging and organizing information related to genes and their variants. These databases serve as valuable resources for researchers, clinicians, and health professionals working on various genetic diseases.
One of the most well-known gene and variant databases is the Huntington’s Disease Gene Mutation Database, available in the Huntingtin (HTT) Gene Mutation Registry. This database provides a comprehensive collection of genetic changes in the HTT gene, which is associated with Huntington’s disease.
The Online Mendelian Inheritance in Man (OMIM) database is another important resource that provides a vast amount of information on genetic disorders, including Huntington’s disease. OMIM is a comprehensive catalog of human genes and genetic disorders, containing information on clinical features, genetic changes, and related articles from scientific references.
In addition to these databases, there are several other gene and variant databases available. These databases include the Human Gene Mutation Database, ClinVar, Pubmed, and Genetests. They offer information on various genes, genetic variants, and associated clinical conditions.
Gene and variant databases provide valuable information on the role of genes and their changes in the development and progression of diseases. They help researchers and clinicians understand the function of genes and the impact of genetic changes on disease susceptibility and progression.
Furthermore, these databases also serve as important resources for diagnostic testing and therapeutic research. They provide information on the availability of genetic tests for specific genes and variants, which can aid in the diagnosis and management of genetic diseases.
In summary, gene and variant databases play a crucial role in providing comprehensive and up-to-date information on genes, genetic variants, and related diseases. These databases serve as valuable resources for researchers, clinicians, and health professionals, providing a wealth of information on the function and role of genes in various diseases.
References
1. Huntingtin
The Huntington Disease Regulatory Region Gene (HTT) is a gene that encodes the huntingtin protein. OMIM
2. Huntington Disease Genetic Testing Registry
The Huntington Disease Genetic Testing Registry is a resource that provides information about the genetic testing and counseling for Huntington disease. Pubmed
3. Genetic Testing and Huntington Disease
This article discusses the genetic testing for Huntington disease and related conditions. Pubmed
4. Huntington Disease in OMIM
This page provides information about Huntington disease in OMIM, including the genetic changes associated with the disorder. OMIM
5. Huntington Disease – Genetics Home Reference
The Genetics Home Reference provides information about the huntingtin gene and the role it plays in Huntington disease. Genetics Home Reference
6. Repeat Changes in Huntington Disease
This article discusses the repeat changes in the huntingtin gene that cause Huntington disease. Pubmed
7. GeneTests: Huntington Disease
This page provides information about the huntingtin gene and its role in Huntington disease. GeneTests
8. Huntington Disease Protein Function
This article discusses the function of the huntingtin protein and its role in Huntington disease. Pubmed
9. Therapeutic Role of HTT Gene
This article discusses the therapeutic potential of targeting the huntingtin gene in Huntington disease. Pubmed
10. HTT Gene and Other Diseases
This article discusses the role of the huntingtin gene in other diseases and disorders. Pubmed
11. HTT Gene and Protein Information
This page provides information about the huntingtin gene and protein, including their functions and related disorders. GeneCards
12. HTT Gene Resources
This is a list of resources related to the huntingtin gene, including databases, articles, and other scientific publications. NCBI Gene
13. HTT Gene Catalog
This is a catalog of genetic tests available for the huntingtin gene and related conditions. NCBI GTR
14. HTT Gene and Huntington Disease Physiol
This article discusses the role of the huntingtin gene in the physiology and pathology of Huntington disease. Pubmed
15. HTT Gene and Huntingtin Protein
This article provides information about the huntingtin gene and its protein product. Pubmed