HSPB8 gene – Austra Health

The HSPB8 gene, also known as HSP22, is a gene that is associated with various neurological conditions, including neuropathy and Charcot-Marie-Tooth disease. It plays a role in the maintenance and stabilization of muscle cells and is involved in the heat-shock response. Mutations in this gene can lead to dominant distal hereditary motor neuropathy type II, which is a genetic disorder characterized by muscle weakness and other signs and symptoms.

This gene is listed in various scientific databases and resources, including PubMed, OMIM, and the Genetic Testing Registry. These resources provide additional information on the role of HSPB8 gene in related diseases and conditions. The biochemistry and function of the HSPB8 protein are not fully understood and further research is needed to clarify its role in disease.

Testing for changes in the HSPB8 gene may be performed in individuals with symptoms or a family history of neuromuscular disorders. The results of genetic testing can help in diagnosing specific diseases and provide information about prognosis and treatment options.

Articles and references related to the HSPB8 gene and its associated diseases and conditions can be found in scientific journals and other literature sources. The HSPB8 gene is just one of many genes that are related to Charcot-Marie-Tooth disease and other neurological disorders. Research in this field is ongoing and new discoveries are constantly being made.

Health Conditions Related to Genetic Changes

Genetic changes in the HSPB8 gene are associated with various health conditions. According to scientific articles listed on Pubmed, these genetic changes can lead to the development of different diseases and conditions, including motor neuropathy, Charcot-Marie-Tooth disease type 2L, and distal hereditary motor neuropathy II.

Motor neuropathy is a term used to describe disorders that affect the nerves controlling voluntary muscles. Charcot-Marie-Tooth disease type 2L is a type of hereditary motor and sensory neuropathy that primarily affects the peripheral nerves in the body. Distal hereditary motor neuropathy II is a rare genetic disorder characterized by progressive muscle weakness and wasting.

The HSPB8 gene, also known as HSP22, encodes for heat-shock proteins that play a role in stabilizing other proteins in cells. Changes in this gene can disrupt the normal biochemistry of cells and lead to the development of these conditions.

Additional information on genetic testing and health conditions related to changes in the HSPB8 gene can be found in databases and resources such as OMIM, the Online Mendelian Inheritance in Man. OMIM provides a catalog of genetic disorders and the associated genes. It also includes references to scientific articles and other resources for further reading.

Testing for genetic changes in the HSPB8 gene can help in the diagnosis of motor neuropathy, Charcot-Marie-Tooth disease type 2L, and distal hereditary motor neuropathy II. However, the exact relationship between the HSPB8 gene and these diseases is still unclear in some cases.

It is important to consult with a healthcare professional or genetic counselor to understand the implications of genetic changes in the HSPB8 gene and the appropriate testing options available.

Charcot-Marie-Tooth disease

Charcot-Marie-Tooth (CMT) disease refers to a group of hereditary motor and sensory neuropathies, which are a set of inherited conditions affecting the peripheral nerves. CMT disease is named after the three physicians who first identified it: Jean-Martin Charcot, Pierre Marie, and Howard Henry Tooth.

There are many different types of Charcot-Marie-Tooth disease, each caused by mutations in different genes. The HSPB8 gene, also known as heat-shock protein 22 (HSP22), is related to Charcot-Marie-Tooth disease type 2L.

The HSPB8 gene provides instructions for making a protein that is involved in stabilizing other proteins in the cell. Mutations in this gene can disrupt the normal functioning of the protein, leading to the development of Charcot-Marie-Tooth disease.

Charcot-Marie-Tooth disease is characterized by a variety of signs and symptoms, including muscle weakness and wasting in the lower limbs, numbness or tingling in the feet and legs, and reduced reflexes. These symptoms usually begin in late childhood or early adulthood and gradually worsen over time.

Diagnosis of Charcot-Marie-Tooth disease involves a combination of clinical evaluation, genetic testing, and other diagnostic tests such as nerve conduction studies. Genetic testing can help identify specific mutations in genes associated with Charcot-Marie-Tooth disease.

There are several resources available for individuals and families affected by Charcot-Marie-Tooth disease. The Online Mendelian Inheritance in Man (OMIM) database provides information on the genetic basis of this and other diseases. Additionally, the Charcot-Marie-Tooth Association maintains a registry of individuals with Charcot-Marie-Tooth disease and provides information and support for affected individuals and their families.

Further research on the HSPB8 gene and other related genes may help in understanding the underlying mechanisms of Charcot-Marie-Tooth disease and developing new treatments for this condition.

References
Scientific Articles	Catalog	Genes
Charcot-Marie-Tooth disease: from genes to genomic medicine.	Neurosci Lett.	HSPB8
Genetic testing for distal hereditary motor neuropathy and other motor neuron diseases.	Cell Biochemistry and Biophysics.	HSPB8
Charcot-Marie-Tooth disease-related genes: an overview.	Hum Mutat.	HSPB8

Distal hereditary motor neuropathy type II

Distal hereditary motor neuropathy type II (dHMN Type II) is a genetic disease that affects the nerves in the muscles. It is also known as distal hereditary motor neuropathy type II (dHMN Type II) or HMSNIIC.

dHMN Type II is caused by mutations in the HSPB8 gene. HSPB8 encodes a protein called heat-shock 22-kDa protein 8 (HSP22), which is involved in stabilizing other proteins in the cell.

The symptoms of dHMN Type II can vary widely between individuals, but typically include muscle weakness and wasting in the distal parts of the limbs (hands and feet). Other signs and symptoms may include muscle cramps, foot deformities, and difficulty walking.

dHMN Type II is considered a rare disease, and its exact prevalence is unclear. It is listed in the Online Mendelian Inheritance in Man (OMIM) database, which provides information on genetic diseases, genes, and related scientific articles.

Testing for dHMN Type II can be done through genetic testing. Several laboratories offer testing for the HSPB8 gene, and information on these tests can be found in genetic testing registries and databases.

Currently, there is no specific treatment for dHMN Type II. Treatment focuses on managing the symptoms and improving quality of life. Physical therapy and assistive devices may be recommended to help maintain muscle function and mobility.

Other Names for This Gene

HSPB8 gene
Heat-shock 22-kDa protein 8
HSPB8

The HSPB8 gene is also known as “Heat-shock 22-kDa protein 8” or simply HSPB8. This gene has been extensively studied in the field of biochemistry and neuroscience, where it plays a crucial role in various health conditions.

HSPB8, also referred to as Hsp22, is associated with several neurodegenerative diseases, such as Charcot-Marie-Tooth disease type 2L and distal hereditary motor neuropathy. These conditions are characterized by changes in muscle cell proteins and cause motor and sensory impairments.

Additional names and related genes associated with HSPB8 include:

HSP22
Charcot-Marie-Tooth Disease Type 2L
Distal Hereditary Motor Neuropathy Type IIA

Scientific articles and databases, such as PubMed, OMIM, and the Charcot-Marie-Tooth Disease Registry, provide further information on this gene and its role in related diseases and conditions. However, the exact mechanisms and implications of HSPB8 gene variants in these diseases are still unclear.

Testing for HSPB8 gene variants may be conducted to understand the genetic basis of certain health conditions or to assess the risk of developing related diseases. This genetic testing can be done through specialized laboratories and clinics that offer comprehensive genetic testing services.

Overall, the HSPB8 gene, known by various names, is an important gene associated with neurodegenerative diseases and related conditions. It provides crucial information for understanding and diagnosing these diseases, and ongoing research aims to uncover its full significance in human health.

Additional Information Resources

OMIM: This is a catalog of human genes and genetic disorders, providing detailed information on the HSPB8 gene, its variants, and associated diseases. OMIM can be a valuable resource for researchers and clinicians in the field of neurogenetics.
PubMed: PubMed is a scientific database that contains a vast collection of scientific articles related to HSPB8 and its role in various diseases. Researchers and healthcare professionals can find a wealth of information on the molecular mechanisms, genetic changes, and clinical manifestations of HSPB8-related neuropathy and other related conditions.
Charcot-Marie-Tooth Association (CMTA): The CMTA is a non-profit organization that provides educational resources and support for individuals and families affected by Charcot-Marie-Tooth disease. Their website contains information on HSPB8-related CMT and other forms of this type of neuropathy.
Educational articles: Various scientific journals and medical websites publish educational articles on HSPB8 and related conditions. These articles can provide in-depth information on the role of HSPB8 in stabilizing proteins and genes, as well as its implications for neurodegenerative diseases.
Genetic testing: For individuals with suspected HSPB8-related neuropathy or other related diseases, genetic testing can be conducted to identify changes in the HSPB8 gene. Testing can be ordered through specialized laboratories and clinics. However, it is important to note that the significance of certain genetic changes may still be unclear.
Registry on Research for Distal Hereditary Motor Neuropathy: The registry is an online resource that aims to collect data on patients with distal hereditary motor neuropathy, a group of disorders that includes HSPB8-related neuropathy. It provides information on the disease, ongoing research studies, clinical trials, and resources for patients and their families.
Cell Signaling Technology: Cell Signaling Technology offers a wide range of scientific resources and products for studying HSPB8 and other heat-shock proteins. Their website contains detailed information on the functions, interactions, and pathways involving HSPB8, as well as access to various tools and reagents for research purposes.

Tests Listed in the Genetic Testing Registry

The HSPB8 gene is associated with various conditions and diseases. Genetic testing for this gene can help in diagnosing these conditions. The following tests are listed in the Genetic Testing Registry:

Charcot-Marie-Tooth Type 2L: This test helps in diagnosing Charcot-Marie-Tooth Type 2L, a type of hereditary motor and sensory neuropathy. Changes in the HSPB8 gene are associated with this condition.
Distal Hereditary Motor Neuropathy: Testing for HSPB8 gene variants can provide information for diagnosing distal hereditary motor neuropathy, a neurological disorder affecting the motor neurons of the peripheral nerves.
Muscle Diseases: The HSPB8 gene is related to various muscle diseases. Testing for this gene can help in diagnosing these conditions.

The Genetic Testing Registry provides a list of additional resources and databases related to genetic testing for the HSPB8 gene and other genes. These resources can provide more information about the conditions and diseases associated with these genes.

References to scientific articles and studies on the HSPB8 gene can be found in databases such as PubMed and OMIM. These references provide further information on the biochemistry, proteins, and changes associated with this gene.

Overall, genetic testing for the HSPB8 gene can help in diagnosing various conditions and diseases related to muscle and neuropathy. This registry and other resources provide valuable information for healthcare professionals and individuals seeking to understand the role of the HSPB8 gene in these conditions.

Scientific Articles on PubMed

The HSPB8 gene, also known as HSP22, is associated with various diseases and conditions. This gene is involved in the production of proteins that play a role in muscle and cell health. Mutations or changes in this gene can lead to the development of different diseases, including Charcot-Marie-Tooth disease and distal hereditary motor neuropathy.

Testing for HSPB8 gene variants is available, and it can help in diagnosing and understanding the underlying causes of these diseases. The identification of specific gene variants can provide important insights into the biochemistry and mechanisms related to these conditions.

PubMed is a comprehensive database of scientific articles, providing a wealth of information on HSPB8 gene-related diseases and conditions. Here are some references and resources available on PubMed:

OMIM: The Online Mendelian Inheritance in Man (OMIM) database lists the HSPB8 gene and its associated diseases, including Charcot-Marie-Tooth disease and distal hereditary motor neuropathy.
PubMed: On PubMed, you can find numerous scientific articles and studies related to the HSPB8 gene and its role in disease development. These articles explore the genetic changes, biochemical mechanisms, and other scientific aspects of the HSPB8 gene and its related conditions.
Charcot-Marie-Tooth Disease Registry: The Charcot-Marie-Tooth Disease Registry provides additional information about the HSPB8 gene and its connection to the disease. It offers resources, research updates, and support for individuals and families affected by Charcot-Marie-Tooth disease.
Motor Neuron Disease: This is another condition related to the HSPB8 gene. PubMed contains scientific articles that discuss the connection between this gene and motor neuron diseases, providing valuable insights into the underlying causes and potential treatment options.
Heat-Shock Proteins: The HSPB8 gene belongs to the family of heat-shock proteins, which are involved in protecting cells from stress. PubMed contains articles that focus on the role of these proteins and their significance in various diseases and conditions.

Catalog of Genes and Diseases from OMIM

The HSPB8 gene, also known as HSP22, is involved in the regulation and stabilization of proteins in cells, particularly in response to heat-shock. Mutations in this gene have been associated with various diseases, including Charcot-Marie-Tooth disease type 2L (CMT2L) and distal hereditary motor neuropathy type II (dHMNII). These conditions are characterized by changes in motor function and other neurological signs.

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on the genetic basis of human diseases. It catalogs genes and their related variants, as well as the associated diseases. OMIM serves as a valuable resource for researchers, clinicians, and individuals seeking information on hereditary conditions.

OMIM provides detailed information on various aspects of genes and diseases, including their names, functions, genetic changes, and additional references. Users can search for specific genes or diseases, view scientific articles and references related to them, and access testing resources for genetic testing.

For HSPB8 gene, OMIM provides information on its association with Charcot-Marie-Tooth disease, distal hereditary motor neuropathy, and other related conditions. The database includes information on the genetic changes associated with these diseases and provides links to the relevant scientific articles from PubMed. OMIM serves as a centralized repository of information for researchers and healthcare professionals working in the field of biochemistry and genetics.

In conclusion, OMIM is a valuable catalog of genes and diseases, offering comprehensive information on various hereditary conditions. It serves as a reliable resource for understanding the genetic basis of diseases and provides essential information for research, diagnosis, and treatment.

Gene and Variant Databases

The HSPB8 gene is one of the many genes that have been identified as being related to various diseases. Gene and variant databases provide a comprehensive catalog of genes and their associated variants, allowing researchers and clinicians to access valuable information for testing and diagnosis purposes.

These databases contain articles, scientific papers, and other resources that provide information on the role of genes like HSPB8 in different diseases. They also provide information on the specific variants or changes in the gene that are associated with certain conditions.

For example, the HSPB8 gene codes for the heat-shock protein HSP22, which is involved in stabilizing other proteins in the cell. Changes in this gene have been found to be associated with several conditions, including Charcot-Marie-Tooth disease, a hereditary neuropathy that affects the muscles and nerves.

The HSPB8 gene is listed in various gene and variant databases, such as the Online Mendelian Inheritance in Man (OMIM) and the Human Gene Mutation Database (HGMD). These databases provide detailed information on the gene, its associated variants, and the diseases or conditions they are linked to.

Researchers and clinicians can use these databases to search for specific genes and variants, access references to relevant scientific articles, and gather information on disease manifestations and other important details. They serve as valuable resources for genetic testing, diagnosis, and research in the field of biochemistry and human health.

Additionally, these databases often include information on related genes and conditions, providing a broader context for understanding the HSPB8 gene’s role in various diseases. For example, the OMIM database lists other genes associated with Charcot-Marie-Tooth disease, such as MFN2, MPZ, and PMP22.

In summary, gene and variant databases are crucial resources for scientists, clinicians, and researchers interested in studying the HSPB8 gene and its association with diseases. They provide comprehensive and up-to-date information on genes, variants, associated diseases, and related conditions, helping to advance our understanding of various genetic disorders.

References

For additional information about the HSPB8 gene and related conditions, please refer to the following resources:

The GeneCards database provides information on the HSPB8 gene and its related genes and proteins. (source: gene cards)
The Online Mendelian Inheritance in Man (OMIM) catalog lists genetic changes associated with HSPB8-related diseases. (source: omim)
PubMed is a database of scientific articles that contain information on the HSPB8 gene and related conditions. (source: pubmed)
The Charcot-Marie-Tooth Disease (CMT) International Neuropathy Registry provides information on HSPB8-related CMT type II and other related genetic motor and sensory neuropathies. (source: CMT International Neuropathy Registry)

The HSPB8 gene, also known as HSP22, is involved in the biochemistry of cell and muscle function. Changes in this gene have been associated with distal hereditary motor neuropathies and other related conditions. The exact role of HSPB8 in these diseases is unclear. Further scientific research is needed to understand the precise mechanisms by which HSPB8 variants contribute to disease development.