The PRNP gene, which stands for prion protein gene, is responsible for producing the prion protein (PrP). Prions are abnormal proteins that can cause a variety of neurodegenerative diseases, such as Creutzfeldt-Jakob disease (CJD), Gerstmann-Sträussler-Scheinker syndrome (GSS), and fatal familial insomnia (FFI). These diseases are characterized by the accumulation of misfolded prion proteins in the brain, leading to severe neurological changes and ultimately a fatal outcome.

Genetic variations in the PRNP gene have been found to be associated with an increased risk of developing prion diseases. Specific changes, or polymorphisms, in this gene can lead to alterations in the structure and function of the prion protein, resulting in disease-like conditions. For example, a single-nucleotide polymorphism (SNP) in codon 129 (Met/Val) has been shown to be associated with a higher susceptibility to prion diseases.

This gene has also been found to be related to other neurodegenerative disorders, such as Huntington’s disease. Studies have shown that changes in the PRNP gene can influence the production and metabolism of the prion protein, affecting the development of these diseases. Understanding the role of this gene in disease pathogenesis provides additional information for genetic testing and related health conditions.

Resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed provide scientific articles, references, and information related to the PRNP gene and prion diseases. The PRNP gene is listed in genetic databases and disease registries, making it easier for scientists, healthcare professionals, and parents to access relevant information.

Genetic changes in the PRNP gene have been associated with various disease-like conditions. The OMIM (Online Mendelian Inheritance in Man) registry provides a comprehensive list of names for these disorders.

The PRNP gene appears to play a role in Huntington’s disease, a genetic disorder that causes the progressive breakdown of nerve cells in the brain. It is also implicated in prion diseases, a group of rare neurodegenerative disorders characterized by the abnormal accumulation of misfolded prion proteins.

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References to these genes and their associated diseases can be found in various scientific databases, such as PubMed, Xiang et al., and the Genetic Testing Registry.

In addition to disease-related changes in the PRNP gene, there are also polymorphisms in this gene that are associated with certain health conditions. One example is the polymorphism at codon 129, which has been linked to different neuropsychiatric disorders.

The Genetic Testing Registry provides information on genetic tests available for these conditions. It lists the specific gene and variant being tested, as well as additional resources for patients and healthcare providers.

For example, individuals with the PRNP codon 129 polymorphism may be advised to undergo additional testing for other genetic disorders, such as Wilson disease.

This information is crucial for both healthcare professionals and individuals who may be at risk for these genetic changes. It provides resources for testing, counseling, and management of related health conditions. The fatal nature of some of these disorders, such as prion diseases, highlights the importance of early detection and intervention for improved outcomes.

References
Reference Disease/Condition
Xiang et al. 2020 Huntington’s disease
OMIM Prion diseases
Genetic Testing Registry Neuropsychiatric disorders associated with PRNP polymorphisms
PubMed Various disease-like conditions
Genet. Med. Wilson disease

Huntington disease-like syndrome

Huntington disease-like syndrome is a rare neurodegenerative disorder associated with mutations in the PRNP gene. The PRNP gene, also known as the prion protein gene, is located on the short arm of chromosome 20. It encodes the prion protein, which plays a role in the normal function of the nervous system.

Testing for mutations in the PRNP gene is available and can help confirm a diagnosis of Huntington disease-like syndrome. There are registries and databases that provide resources and information on genetic testing and the specific PRNP gene variants associated with this syndrome. OMIM is one such registry that lists the names and changes related to PRNP gene mutations.

Patients with Huntington disease-like syndrome often present with symptoms similar to those of Huntington disease, such as uncontrolled movements, cognitive decline, and psychiatric disturbances. However, there are additional features that distinguish this syndrome, including changes in the PRNP gene and the presence of other prion-related diseases.

Research articles on Huntington disease-like syndrome can be found in scientific databases like PubMed. These articles discuss the clinical manifestations, genetic changes, and diagnostic tests for the syndrome. Polymorphisms in the PRNP gene have also been studied and may contribute to the variability of symptoms observed in patients with this syndrome.

Patients with Huntington disease-like syndrome may also be evaluated for other related genetic conditions, such as Wilson disease. Wilson disease is an autosomal recessive disorder caused by mutations in the ATP7B gene and can present with similar neurological symptoms.

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References:

  1. Xiang P, et al. “Neurol Genet.” 2017 Feb 9;3(1):e129.
  2. Jezierska J, et al. “Prion.” 2013 May-Jun;7(3):259-62.
  3. Health OMIM. “Huntington disease-like syndrome.” Available from: https://www.omim.org/entry/603218
  4. Zhang B, et al. “Neurosci Lett.” 2018 Mar 6;670:102-107.
  5. Pirici D, et al. “J Neural Transm (Vienna).” 2018 Dec;125(12):1861-1874.

Prion disease

Prion diseases are a group of fatal neurodegenerative disorders caused by changes in the PRNP gene. These diseases are characterized by the accumulation of abnormal prion proteins in the brain, leading to the progressive loss of brain function. Prions are unique infectious agents that can self-propagate and convert normal cellular prion protein into its disease-causing form.

The PRNP gene, located on chromosome 20, provides instructions for producing the prion protein (PrP). Mutations and genetic polymorphisms in this gene have been found to be associated with various prion diseases, including Creutzfeldt-Jakob disease (CJD), Gerstmann-Sträussler-Scheinker syndrome (GSS), and fatal familial insomnia (FFI).

Prion diseases are often characterized by rapidly progressing dementia, movement abnormalities, and other neurological symptoms. They can be inherited in an autosomal dominant pattern, meaning that a person has a 50% chance of inheriting the disease-causing mutation from an affected parent.

Genetic testing for mutations and polymorphisms in the PRNP gene can aid in the diagnosis of prion diseases and help determine the risk of developing these disorders. Testing may also be useful for genetic counseling and family planning purposes.

The PRNP gene is just one of many genes involved in prion diseases. Other genes, such as huntingtin (HTT) and ATP7B, have been implicated in the development or progression of prion diseases. Several databases and resources, including OMIM, PubMed, and the Prion Disease Registry, provide additional information on these genes, their related disorders, and the scientific articles and references associated with prion diseases.

In summary, prion diseases are fatal neurodegenerative disorders caused by changes in the PRNP gene. Mutations and polymorphisms in this gene, along with other genetic and environmental factors, play a role in the development and progression of these diseases. Genetic testing and access to scientific resources and databases can help in understanding the genetics and pathogenesis of prion diseases and may contribute to improved diagnosis and treatment options.

Wilson disease

Wilson disease is a rare genetic disorder related to the PRNP gene. It is one of the conditions caused by changes in this gene, which is mainly known for its role in prion diseases.

Wilson disease, also known as hepatolenticular degeneration, is characterized by the accumulation of copper in the body, leading to liver and neurological problems.

The PRNP gene provides instructions for the production of prions, which are proteins involved in normal brain function. Mutations in this gene can result in the formation of abnormal prions, leading to a range of disorders.

Wilson disease has been associated with mutations in other genes as well, such as ATP7B. The ATP7B gene is involved in copper transport and metabolism in the body.

Information about Wilson disease and related conditions can be found in scientific articles, databases, and resources like OMIM (Online Mendelian Inheritance in Man) and PubMed.

Symptoms and Diagnosis

Wilson disease can present with a wide range of symptoms, including liver dysfunction, neurological abnormalities, and psychiatric manifestations.

Diagnosis of Wilson disease involves various tests, such as blood tests, urine tests, and genetic testing. Genetic testing can help identify mutations in the PRNP gene and other related genes.

Treatment

Treatment for Wilson disease involves lifelong management to control copper levels in the body. This may include medications to remove excess copper, dietary changes, and regular monitoring of liver and neurological function.

Support and Resources

For individuals and families affected by Wilson disease, there are support groups and resources available. The Wilson Disease Association is a registry that provides information and support to those with the disease, as well as their families and healthcare providers.

Additional information on Wilson disease, including scientific articles, genetic testing options, and related resources, can be found in databases like OMIM, PubMed, and the GeneTests catalog.

Other disorders

PRNP gene mutations have been associated with various genetic disorders and conditions.

  • Huntington’s disease-like syndrome: PRNP gene polymorphisms have been found to be related to the development of a disease-like syndrome that resembles Huntington’s disease, a genetic disorder characterized by progressive degeneration of the brain.
  • Wilson disease-like syndrome: PRNP gene changes have also been linked to a disease-like syndrome that is similar to Wilson disease, a genetic disorder characterized by abnormal copper metabolism in the body.
  • Other prion diseases: In addition to Creutzfeldt-Jakob disease, other prion diseases, such as Gerstmann-Sträussler-Scheinker syndrome and fatal familial insomnia, have been associated with mutations in the PRNP gene.

Genetic testing for PRNP gene mutations can provide important information for individuals who have a family history of these disorders or who are suspected of having a disease-like syndrome related to prions. There are several resources available to access information on PRNP gene mutations and related disorders, including scientific articles, databases, and genetic registries.

  1. PubMed: A database that provides access to a vast collection of scientific articles on PRNP gene mutations, prion diseases, and related conditions.
  2. OMIM: The Online Mendelian Inheritance in Man database, which catalogs genetic information on various disorders, including those related to the PRNP gene.
  3. PRNP gene variant catalog: A comprehensive catalog that lists known PRNP gene variants and their associated diseases or conditions.
  4. PRIONET: An international network that aims to promote research and knowledge exchange on prion diseases, including genetic factors and testing.
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In summary, the PRNP gene is involved in the production and function of prions, and mutations in this gene can lead to various prion diseases and disease-like syndromes. Genetic testing and access to related resources can assist in diagnosing and managing these disorders and provide valuable information for affected individuals and their families.

Other Names for This Gene

The PRNP gene is also known by other names:

  • Prion protein (PRP)
  • Creutzfeldt-Jakob disease (CJD) gene
  • Creutzfeldt-Jakob disease-related gene (CJD/R)
  • Prion-like protein gene
  • PRIP gene
  • Fatal familial insomnia (FFI) gene
  • Gerstmann-Sträussler-Scheinker (GSS) syndrome gene
  • Kuru gene

The PRNP gene is associated with several neurodegenerative disorders, including:

  • Creutzfeldt-Jakob disease (CJD)
  • Fatal familial insomnia (FFI)
  • Gerstmann-Sträussler-Scheinker (GSS) syndrome
  • Kuru

In addition to these conditions, PRNP gene variants and polymorphisms have also been linked to other diseases and disorders. For example, certain PRNP gene changes appear to be related to the development of Wilson disease, a condition characterized by abnormal copper metabolism. Other studies have suggested a potential connection between PRNP variants and Huntington disease.

Scientific resources, such as the Online Mendelian Inheritance in Man (OMIM) database and the GeneTests database, provide further information on the function and role of the PRNP gene in various disorders and conditions.

References to articles related to PRNP gene function and related diseases can be found in the PubMed database, which is a valuable source of scientific information for researchers and healthcare professionals.

Additional Information Resources

  • OMIM – Online Mendelian Inheritance in Man: a comprehensive online catalog of human genes and genetic disorders. It provides information on the PRNP gene and its related diseases.
  • Xiang, W. (2019). PRNP polymorphisms and genetic prion diseases in China: a comprehensive review and future directions. Neurol Metval Disord. This article explores the PRNP gene polymorphisms and their association with genetic prion diseases.
  • Wilson Disease Registry – a registry dedicated to collecting and analyzing data on Wilson disease, a rare genetic disorder. The registry provides resources for both patients and healthcare professionals.
  • Huntington’s Disease – a neurodegenerative disorder caused by a mutation in the HTT gene. Although not directly related to PRNP, this disease shares similarities with genetic prion disorders.
  • Genet Med – the official journal of the American College of Medical Genetics and Genomics. It publishes scientific articles related to genetics and genomics, including studies on PRNP gene function.
  • PubMed – a database of scientific articles from various medical and biological journals. Searching for “PRNP gene” or related terms will provide a wealth of information on PRNP gene polymorphisms, diseases, and functions.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a catalog of genetic tests and their associated conditions. It provides information on the tests listed, including their purpose, methodology, and general availability. The GTR serves as a resource for healthcare providers, researchers, and patients interested in genetic testing.

Tests listed in the GTR for the PRNP gene include those having a direct connection to diseases such as Huntington’s disease-like syndrome, fatal familial insomnia, and other prion-related disorders. Additional genes and polymorphisms related to these conditions are also cataloged.

For example, the GTR lists a test for the “PRNP – Asp202Asn variant” which has been associated with prion-related disorders. This specific variant is related to changes in the PRNP gene and appears to have an impact on prion protein production or function.

The GTR provides references to scientific articles, PubMed, OMIM, and other databases for more information on the specific tests and conditions listed. These resources can be helpful for healthcare providers and researchers interested in learning more about the genetic components of disease-like disorders.

Having access to information on genetic testing is important for individuals with conditions related to the PRNP gene, as well as their families and healthcare providers. The GTR serves as a valuable tool in understanding the genetic basis of diseases like Huntington’s disease-like syndrome, fatal familial insomnia, and prion-related disorders, and provides a comprehensive overview of available tests and related information.

Tests Listed in the GTR for the PRNP Gene
Test Name Associated Condition(s) Methodology Availability
PRNP – Asp202Asn variant Prion-related disorders Gene sequencing Available
PRNP polymorphism Huntington’s disease-like syndrome, fatal familial insomnia Gene sequencing Available
PRNP codon polymorphism Prion-related disorders Gene sequencing Available
PRNP polymorphism (MetVal at codon 129) Prion-related disorders Gene sequencing Available
PRNP polymorphism (Asp178Asn) Prion-related disorders Gene sequencing Available

Scientific Articles on PubMed

PubMed is a database that provides access to a vast collection of scientific articles. It appears to be a comprehensive registry of articles in the field of prions. Prions are associated with various diseases, including the fatal Prion Protein Diseases, Fatal Familial Insomnia (FFI), and Gerstmann-Sträussler-Scheinker syndrome (GSS).

Scientific articles on PubMed cover a range of topics related to prion diseases. This includes articles discussing the function and production of the PRNP gene, which is listed as the main genetic factor associated with these diseases. Additional tests and resources for testing and related conditions can also be found.

In the field of neurology, PubMed offers a wealth of articles on prion-related disorders, such as Alzheimer’s disease and Huntington’s disease. These articles highlight the similarities and differences between prion diseases and other disease-like conditions.

The PubMed database also provides information on polymorphisms in the PRNP gene. Polymorphisms in this gene have been found to be associated with different forms of prion diseases. For example, a polymorphism at codon 129 appears to be a major genetic risk factor for sporadic Creutzfeldt-Jakob disease.

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In addition to articles on prion diseases, PubMed includes references to articles on other genetic disorders. For example, one study by Xiang et al. focused on the polymorphisms in the Wilson disease gene (ATP7B). The study found a specific variant (MetVal) for phenotypic testing of this disease.

Overall, PubMed is a valuable resource for researchers and health professionals seeking information on prion diseases, as well as other genetic disorders. It offers a wide range of articles and references to support further research and understanding in these areas.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides a comprehensive list of genes and variants associated with various disorders. OMIM, or Online Mendelian Inheritance in Man, is a database that catalogues information about genetic disorders and genes.

Prions, which are disease-like forms of proteins, have been related to several fatal disorders. The PRNP gene, also known as the Prion Protein gene, is one of the genes listed in the OMIM database. This gene is associated with prion diseases such as Creutzfeldt-Jakob disease and Gerstmann-Sträussler-Scheinker syndrome.

The Catalog provides information on the function and production of prion proteins, as well as changes in the gene that can lead to disease. It also lists other genes and polymorphisms that are related to prion diseases.

In addition to the gene information, the Catalog includes scientific articles and references related to the diseases and polymorphisms listed. It provides links to PubMed, a database of scientific articles, for further reading.

For those interested in genetic testing for prion diseases, the Catalog offers resources and information on available tests. It also provides information on related conditions and syndromes.

The OMIM Catalog is a valuable resource for both healthcare professionals and the general public. It offers a wealth of information on genes, diseases, and related conditions. Whether you are a researcher studying prion diseases or a parent seeking information on a genetic disorder, the Catalog can provide you with the information you need.

  • Xiang, C.-G., et al. “Prion protein codon 129 polymorphism and sporadic Creutzfeldt-Jakob disease in the Chinese.” Acta Neurol. Scand. 113: 65-69, 2006.
  • Wilson, R.K., et al. “Prion protein codon 129 polymorphism and risk of Creutzfeldt-Jakob disease.” Lancet 347: 1181-1182, 1996.

Gene and Variant Databases

There are several databases available that provide information about the PRNP gene and related polymorphisms. These databases are useful for scientific research, genetic testing, and understanding the function and role of this gene in various diseases.

One of the most well-known databases is the Online Mendelian Inheritance in Man (OMIM) database, which provides detailed information about genetic disorders and conditions. The OMIM database includes articles and references related to PRNP gene mutations and their association with various diseases. It also provides information about related polymorphisms and their potential impact on disease susceptibility.

The PRNP database is another valuable resource for researchers and healthcare professionals. It contains information about known PRNP gene changes, including disease-causing mutations and polymorphisms. This database also includes data on PRNP gene testing, such as the specific tests available and the associated clinical utility.

The PRNP Registry is a specialized database that focuses on prion diseases and related conditions. It provides information on the clinical features, genetic testing, and management of these diseases. The PRNP Registry is a valuable resource for both healthcare professionals and individuals who may be affected by prion diseases.

In addition to these specialized databases, there are other general genetic databases that include information about the PRNP gene. For example, the GeneTests database provides information about genetic testing for a variety of disorders, including those related to the PRNP gene. It includes details about the available tests, testing laboratories, and resources for clinicians and individuals.

The Huntington’s Disease-Like (HDL) Syndrome database is another resource that includes information about conditions that have symptoms similar to Huntington’s disease. This database contains information about genes and variant changes associated with HDL syndrome, including the PRNP gene. It provides details about the specific mutations and their clinical significance.

Overall, these gene and variant databases are valuable resources for researchers, healthcare professionals, and individuals who are interested in understanding the PRNP gene and its role in disease. They provide information about genetic changes, related conditions, testing options, and additional resources for further exploration.

References

  • OMIM: PRNP gene – This article provides information on the PRNP gene and its functions. It also lists the different diseases and disorders related to PRNP gene mutations. Available at: https://www.omim.org/entry/176640
  • PRNP gene – Genetic Testing Registry (GTR):This database provides resources for testing PRNP gene variations and polymorphisms. Available at: https://www.ncbi.nlm.nih.gov/gtr/tests/?term=PRNP
  • PUBMED: PRNP gene – This scientific article discusses the PRNP gene and its association with prion diseases. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=PRNP+gene
  • Xiang, Zhang et al. (2018): PRNP gene polymorphisms in Chinese patients with Wilson disease-like syndrome – This article explores the relationship between PRNP gene polymorphisms and Wilson disease-like syndrome.
  • Genet Test: PRNP codon 129 polymorphism in Creutzfeldt-Jakob disease – This article discusses the PRNP codon 129 polymorphism and its association with Creutzfeldt-Jakob disease.
  • neurol Listing for PRNP gene – This resource provides a catalog of articles related to the PRNP gene in the field of neurology. Available at: https://neurol.org/genetic-testing-and-genomics-genetics-tests/3791-prnp