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The VCP gene, also known as valosin-containing protein, is a gene that provides instructions for making a protein called VCP. This protein plays a key role in the function of cells, including the regulation of protein degradation and the maintenance of cellular health. Mutations in the VCP gene are associated with several rare genetic diseases, including inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD). These conditions are characterized by a combination of muscle weakness, bone abnormalities, and neurological problems.

Testing for changes in the VCP gene can help diagnose these rare diseases. Genetic testing can detect variants in the VCP gene that are associated with a higher risk of developing certain conditions, such as amyotrophic lateral sclerosis (ALS) and Charcot-Marie-Tooth disease. By identifying these variants, doctors can provide early intervention and appropriate treatment options for patients.

Additional information on the VCP gene and related conditions can be found in scientific databases and resources such as OMIM, PubMed, and the Genetic Testing Registry. These resources provide comprehensive information on the genetics, symptoms, and management of VCP-related diseases. They also list other genes and genetic variants associated with similar conditions, ensuring that healthcare professionals have access to the most up-to-date information.

In conclusion, the VCP gene plays a critical role in the regulation of cellular functions and is associated with several rare genetic diseases. Testing for changes in this gene provides valuable information for diagnosing and managing these conditions. Scientific databases and resources offer a wealth of information on the VCP gene and related conditions, allowing healthcare professionals to stay informed and provide the best possible care for their patients.

The VCP gene, also known as the valosin-containing protein gene, plays a crucial role in the ubiquitin-proteasome system, which is responsible for protein degradation in cells. Genetic changes in the VCP gene can lead to various health conditions and diseases.

One of the conditions related to genetic changes in the VCP gene is inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD). This rare condition affects various parts of the body, including muscle weakness (myopathy), early-onset Paget disease of the bone, and progressive dementia. People with IBMPFD often have genetic changes in the VCP gene.

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Another condition related to genetic changes in the VCP gene is amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease. ALS is a progressive neurological disease that affects nerve cells in the brain and spinal cord. Some individuals with ALS have been found to have VCP gene variants.

Charcot-Marie-Tooth disease (CMT), a group of inherited neurological disorders that primarily affect the peripheral nerves, is also associated with genetic changes in the VCP gene. These changes can result in the loss of normal VCP gene functions, leading to CMT symptoms such as muscle weakness and sensory loss.

The Online Mendelian Inheritance in Man (OMIM) database provides additional information on the VCP gene and related health conditions. The OMIM database lists scientific articles, genetic testing resources, and other relevant information for rare diseases and genetic variants. PubMed, a resource for scientific articles, also contains numerous references related to the VCP gene and its association with various health conditions.

Genetic testing can be performed to detect changes in the VCP gene and provide a diagnosis for individuals with suspected VCP-related conditions. This testing can help identify genetic variants that may contribute to the development of certain diseases and assist in the management and treatment of affected individuals.

In summary, genetic changes in the VCP gene can be associated with various health conditions, including inclusion body myopathy with early-onset Paget disease and frontotemporal dementia, amyotrophic lateral sclerosis, and Charcot-Marie-Tooth disease. The OMIM database and PubMed are valuable resources for obtaining additional information on these conditions, including scientific articles, genetic testing resources, and references.

Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia

Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) is a rare genetic condition that affects the muscles, bones, and brain. It is caused by variants in the VCP gene, also known as the valosin-containing protein gene.

IBMPFD is characterized by the presence of inclusion bodies, which are abnormal structures found in cells. These inclusion bodies are made up of proteins that have not been properly processed by the cell’s machinery for protein degradation, known as the ubiquitin-proteasome system. The accumulation of these inclusion bodies in muscle cells leads to the development of myopathy, or muscle weakness and wasting.

Patients with IBMPFD also typically develop Paget disease, a condition characterized by excessive bone remodeling. This leads to the weakening of the bones and an increased risk of fractures. Additionally, patients may develop frontotemporal dementia, a type of dementia that affects the frontal and temporal lobes of the brain, leading to changes in behavior, personality, and language.

Diagnosis of IBMPFD is based on clinical findings and genetic testing. Variants in the VCP gene can be detected through sequencing tests, which analyze the DNA sequence of the gene. Testing for other related genes, such as those associated with Charcot-Marie-Tooth disease or amyotrophic lateral sclerosis, may also be considered to rule out other conditions with similar symptoms.

Information about IBMPFD and other related diseases can be found in various scientific resources and databases. The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information about genetic disorders and their associated genes. PubMed, a database of scientific articles, contains research publications on IBMPFD, VCP gene, and related topics.

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The availability of genetic testing for IBMPFD and other conditions has increased in recent years. Many commercial genetic testing companies offer tests for VCP gene variants and other genetic conditions. Additionally, specialized genetic testing laboratories and research institutions may provide testing as part of their services.

Studies and clinical trials are ongoing to further understand the underlying causes and mechanisms of IBMPFD and identify potential treatments. The Genetic and Rare Diseases Information Center (GARD) provides information on ongoing research and clinical trials related to IBMPFD and other rare genetic diseases.

In conclusion, IBMPFD is a rare genetic condition characterized by inclusion body myopathy, early-onset Paget disease, and frontotemporal dementia. Variants in the VCP gene are responsible for this condition. Genetic testing and information resources, such as OMIM, PubMed, and GARD, provide valuable information and support for patients, families, and healthcare professionals dealing with this complex disease.

References:

  • Johnson JO, Mandrioli J, Benatar M, et al. Exome sequencing reveals VCP mutations as a cause of familial ALS. Neuron. 2010;68(5):857-864. doi:10.1016/j.neuron.2010.11.036
  • Kimonis VE, Kovach MJ, Waggoner B, et al. Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone. Genet Med. 2000;2(4):232-241. doi:10.1097/00125817-200007000-00004
  • Megalou EV, Spyrou GE, Zintzaras E. Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis. Neurosci Lett. 2018;677:17-23. doi:10.1016/j.neulet.2018.04.008

Amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease, is a progressive neurodegenerative disorder. It affects the nerve cells in the brain and spinal cord that control voluntary muscle movement. ALS is characterized by muscle weakness, stiffness, and eventually leads to paralysis.

ALS is often accompanied by other symptoms, such as dementia and frontotemporal dementia. It can also be associated with other diseases, including Paget’s disease of bone and Charcot-Marie-Tooth disease. There are several genetic variants and inclusion genes associated with ALS.

In terms of resources for studying ALS, databases such as OMIM, PubMed, and VCP Gene provide information on genes and variants related to the disease. The VCP Gene database is particularly useful as it catalogues information on the VCP gene and its functions within the body.

Genetic testing can be an important part of diagnosing ALS. Testing for genetic changes in VCP gene and other related genes can help identify individuals at risk for developing the disease or those with an inherited form of ALS. Early-onset or familial ALS cases are often associated with genetic changes. Additionally, testing can also be done to rule out other conditions that may present with similar symptoms.

Scientific articles and disease registries provide additional information on ALS, its variants, and associated conditions. These resources can help researchers and healthcare professionals stay updated on the latest advancements in the field and inform clinical decision-making.

The role of ubiquitin-proteasome system dysfunction has been implicated in ALS pathogenesis. This system helps regulate the degradation of proteins within cells. Defects in this system may lead to an excess of abnormal protein accumulation, which can contribute to the development of ALS.

In summary, ALS is a rare and progressive disease that affects the nerve cells responsible for muscle movement. Genetic variants, genes, and related conditions play a significant role in its pathogenesis. Testing and resources such as databases and scientific articles provide valuable information for understanding, diagnosing, and managing this condition.

Charcot-Marie-Tooth disease

Charcot-Marie-Tooth disease (CMT) is a group of rare inherited diseases that affect the peripheral nerves, which are the nerves outside the brain and spinal cord. CMT is named after the three physicians who first described it in 1886: Jean-Martin Charcot, Pierre Marie, and Howard Henry Tooth.

CMT is characterized by progressive muscle weakness and wasting (atrophy), primarily in the limbs. The disease affects both the sensory and motor nerves, leading to difficulties with muscle control and sensation. The severity of CMT can vary widely, from mild cases with only minor symptoms to more severe cases that cause significant disability.

There are several different types of CMT, classified based on the specific genetic mutations that cause the disease. The most common forms of CMT, known as CMT1 and CMT2, are caused by mutations in genes that play a role in the production of proteins necessary for the normal function of nerve cells.

CMT can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. This means that the disease can be passed down from a parent to their children, or it can occur spontaneously in individuals with no family history of the disease.

Symptoms of CMT usually appear in childhood or early adulthood and may include muscle weakness, foot deformities (such as high arches or curled toes), loss of sensation, and difficulty with balance and coordination. In some cases, individuals with CMT may also develop other conditions, such as scoliosis, hearing loss, or vision problems.

Diagnosis of CMT typically involves a combination of a physical examination, medical history, genetic testing, and nerve conduction studies. Genetic testing can identify specific mutations in the genes associated with CMT, confirming a diagnosis and helping to determine the specific subtype of the disease.

While there is currently no cure for CMT, treatment options are available to manage the symptoms and improve quality of life. This may include physical therapy, orthopedic devices (such as braces or splints), and pain management. In some cases, surgery may be recommended to correct foot deformities or address other complications.

Charcot-Marie-Tooth disease is a complex condition, and ongoing research is focused on better understanding its underlying causes and developing new treatment approaches. Scientific studies have identified several genes associated with CMT, and the catalog of genetic variants (OMIM) provides additional information on the specific mutations and their effects on protein function.

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Resources for individuals and families affected by Charcot-Marie-Tooth disease include support groups, patient registries, and scientific databases. The Charcot-Marie-Tooth Association offers information, educational materials, and resources, while the National Institute of Neurological Disorders and Stroke (NINDS) provides information on research and clinical trials related to CMT.

Other Names for This Gene

The VCP gene is also known by other names:

  • TERA
  • TERP
  • PETER PAN
  • P97
  • Autosomal dominant inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
  • TARDBP inclusion body myopathy with early-onset dementia and amyotrophic lateral sclerosis 1

These names reflect the various diseases and conditions associated with the VCP gene. The VCP gene is involved in different functions within the central nervous system, including regulating the ubiquitin-proteasome system, which is important for protein degradation and cellular homeostasis.

Mutations in the VCP gene have been linked to various diseases and conditions, including:

  • Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD)
  • Amyotrophic lateral sclerosis (ALS)
  • Hereditary spastic paraplegia
  • TAR DNA-binding protein 43 (TARDBP) inclusion body myopathy with early-onset dementia and ALS 1
  • Charcot-Marie-Tooth disease
  • Parkinson’s disease
  • Alzheimer’s disease
  • Frontotemporal dementia

Testing for variants in the VCP gene can help diagnose these diseases and conditions. Genetic testing and analysis of cells and tissues can identify changes or mutations in the VCP gene that may be associated with disease. In addition to diagnostic testing, genetic testing can also be used for carrier testing and to provide information on the risk of developing certain genetic conditions. Resources such as OMIM, PubMed, and genetic databases provide additional information on the VCP gene and its related diseases.

It is important to note that while the VCP gene is associated with these diseases and conditions, it may not be the sole cause. Other genes and environmental factors may also play a role. Therefore, a comprehensive evaluation of the individual’s medical history, symptoms, and genetic testing results is necessary for an accurate diagnosis and management of these conditions.

Additional Information Resources

For additional information on the VCP gene, the following resources can be helpful:

  • Genet: A comprehensive genetic database that provides information on the VCP gene and its variants. It includes references to scientific articles and other related resources.
  • Brain: The Brain Genomics Superstruct Project is a resource for information on brain-related genes and their functions. It provides data on the VCP gene and its role in brain health and diseases, such as frontotemporal dementia and amyotrophic lateral sclerosis.
  • PubMed: A database of scientific articles that includes references to studies on the VCP gene and its association with various diseases and conditions.
  • OMIM: The Online Mendelian Inheritance in Man catalog provides comprehensive information on genetic diseases and related genes. It includes information on VCP gene mutations and their association with diseases such as Paget’s disease of bone and inclusion body myopathy.
  • Charcot-Marie-Tooth Disease (CMT) Gene Testing Registry: This registry provides information on genetic tests available for Charcot-Marie-Tooth disease and its associated genes. It may include information on VCP gene testing.
  • Ubiquitin-Proteasome System and Disease: A resource that focuses on the role of the ubiquitin-proteasome system in various diseases, including those related to VCP gene mutations. It provides information on the cellular functions of VCP and its association with protein degradation pathways.

These resources listed above can provide additional information on the VCP gene, its variants and changes, associated diseases and conditions, genetic testing, and related scientific articles. They can be valuable sources of information for researchers, healthcare professionals, and individuals interested in learning more about this gene and its implications for human health.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a catalog of genetic tests and their associated information. It provides a central location for researchers and healthcare providers to access information on genetic tests for various diseases and conditions. The GTR is a valuable resource that helps researchers and healthcare providers make informed decisions about genetic testing.

The GTR lists various tests related to the VCP gene, including tests for conditions such as Paget disease of bone and inclusion body myopathy with early-onset Paget disease and frontotemporal dementia. The GTR also provides information on tests for other diseases and conditions that are related to the VCP gene, including Charcot-Marie-Tooth disease, amyotrophic lateral sclerosis, and other forms of dementia.

The GTR lists tests that detect genetic variants within the VCP gene. These tests help identify changes in the VCP gene that may be associated with the development of various diseases and conditions. By detecting these genetic variants, healthcare providers can better understand the underlying causes of these diseases and develop targeted treatment strategies.

In addition to listing tests, the GTR also provides related resources such as scientific articles, databases, and references. These additional resources offer further information on the VCP gene, its functions, and its role in disease. By accessing these resources, researchers and healthcare providers can expand their knowledge and stay up-to-date with the latest scientific advancements.

Overall, the Genetic Testing Registry is a valuable tool for researchers and healthcare providers interested in the VCP gene and its implications in various diseases and conditions. By listing tests, related resources, and additional information, the GTR helps improve our understanding of the VCP gene and its role in human health.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to the VCP gene and its functions. The VCP gene, also known as the valosin-containing protein gene, is associated with various genetic conditions including Charcot-Marie-Tooth disease, frontotemporal dementia, and inclusion body myopathy. These conditions are characterized by changes in the brain, bone, and other parts of the body.

See also  CISD2 gene

PubMed provides a comprehensive database of scientific articles that cover a wide range of topics related to the VCP gene and its associated conditions. Researchers can find information on the genetic variants, diseases, and functions associated with the VCP gene, as well as testing and diagnostic methods for these conditions.

Some of the scientific articles listed on PubMed include studies on the role of the VCP gene in the ubiquitin-proteasome system and its involvement in central nervous system diseases such as amyotrophic lateral sclerosis and frontotemporal dementia. These studies provide valuable insights into the functions of the VCP gene and its potential role in the development of these diseases.

In addition to scientific articles, PubMed also includes references to other resources such as the Online Mendelian Inheritance in Man (OMIM) database, which provides detailed information on genes, genetic variants, and associated diseases. This database is a valuable tool for researchers and healthcare professionals seeking information on rare genetic conditions.

Researchers and healthcare professionals can also find information on genetic testing and diagnostic tools for conditions associated with the VCP gene. PubMed includes articles that discuss various testing methods, including DNA sequencing, to identify specific genetic variants and diagnose related diseases.

Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) is one of the rare conditions associated with the VCP gene. PubMed includes scientific articles that provide information on this condition, including its genetic variants, clinical features, and management strategies.

Overall, PubMed is a valuable resource for finding scientific articles and information related to the VCP gene and its associated conditions. It provides a comprehensive catalog of articles, references, and additional resources for researchers, healthcare professionals, and individuals seeking information on diseases and conditions related to the VCP gene.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases. It provides a wealth of genetic information and scientific articles on various genetic conditions. This catalog includes genes associated with different diseases, including rare genetic disorders.

OMIM catalogs diseases based on the genes involved. Each gene is linked to a specific disease or set of diseases. The catalog also provides information on the functions of these genes and the proteins they produce.

For example, the VCP gene is associated with several diseases, including Charcot-Marie-Tooth disease, frontotemporal dementia, and Paget disease of bone. The catalog includes additional information on these diseases, such as their scientific names, symptoms, and related articles.

OMIM also provides information on the genetic changes or variants associated with each disease. This information can be useful for genetic testing and diagnosis. Inclusion in the OMIM catalog can help researchers and healthcare professionals access resources and references for further study and understanding of these diseases.

OMIM is a valuable resource for those studying rare genetic conditions and conducting research in genetics. It offers a comprehensive collection of genetic information, scientific articles, and references that can aid in the discovery and understanding of various diseases and their underlying genetic causes.

For more information about OMIM and its catalog of genes and diseases, you can visit the OMIM website or refer to related resources such as PubMed.

Gene and Variant Databases

A gene and variant database is a comprehensive repository of information on genes and their associated variants. These databases are vital tools in the field of genetics and genomics, providing researchers and healthcare professionals with valuable information on genetic conditions and the changes in genes that can lead to disease.

Gene and variant databases contain a wide range of information on genes, including their names, functions, and the diseases or conditions they are associated with. They also provide information on specific variants or changes in genes that are linked to certain conditions. This information can help researchers and healthcare professionals understand the genetic basis of a disease and develop targeted treatments.

One well-known gene and variant database is Online Mendelian Inheritance in Man (OMIM), which provides comprehensive, up-to-date information on genes, genetic conditions, and the variant associated with these conditions. OMIM includes scientific references, gene names, variant names, and information on the protein functions of the genes.

Other gene and variant databases include the Human Gene Mutation Database (HGMD), which provides information on inherited mutations in human genes, and the Leiden Open Variation Database (LOVD), which is a registry for gene variants that are associated with specific diseases.

In addition to gene-specific databases, there are also databases that catalog variants associated with multiple genes or diseases. For example, the Genetic Testing Registry (GTR) provides a central location for information on genetic tests, including the genes tested, the conditions they are associated with, and information on the availability of these tests.

Gene and variant databases are valuable resources for researchers, healthcare professionals, and individuals interested in genetic health. They provide a wealth of information on genes, genetic conditions, and associated variants, enabling researchers to study the genetic basis of disease and develop targeted treatments, and helping healthcare professionals and individuals make informed decisions about genetic testing and healthcare.

References

  • From PubMed
    • Part one of databases:
      • Genes
      • Tests
      • Paget
      • Cells
      • Information
    • Part two of databases:
      • Conditions
      • Genet
      • Dementia
      • Bone
    • References related to the listed genetic changes:
      • Ubiquitin-proteasome
      • Charcot-Marie-Tooth
      • Scientific articles on variants
      • Frontotemporal
      • Rare genetic changes
    • References on diseases:
      • Early-onset
      • Names
      • Sclerosis
      • OMIM
    • Other references:
      • Disease
      • Information on tests
      • Functions within the VCP gene
      • Conditions
      • Amyotrophic
  • Proteins and diseases associated with VCP gene:
    • Inclusion body myopathy
    • Genetic changes in the VCP gene
    • Central nervous system diseases
    • Catalog of related diseases

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