The POLR3A gene, also known as Polymerase (RNA) III Subunit A, is one of the subunits of the RNA polymerase III complex. This complex is responsible for the transcription process, which is the synthesis of RNA from DNA.

The POLR3A gene plays a crucial role in the genetic regulation of various processes in the body. It has been found that changes in this gene can cause several disorders, including rapid aging, hypogonadism, and leukodystrophy. These conditions are thought to be related to impairment of the myelin, a substance that covers nerve fibers and is essential for proper nervous system function.

Scientific studies and genetic testing have identified various variants and combinations of the POLR3A gene that are associated with different health conditions. This information is available in databases such as PubMed, OMIM, and the Genetic Testing Registry. These resources provide comprehensive catalogs of genetic changes and related disorders, as well as references to scientific articles and other sources of information.

One of the disorders associated with changes in the POLR3A gene is Wiedemann-Rautenstrauch syndrome. This rare genetic disorder causes rapid aging and is characterized by specific physical features such as a large head, small chin, and thin muscles. The exact mechanisms by which changes in the POLR3A gene contribute to the development of this syndrome are still being investigated.

Genetic changes in the POLR3A gene can lead to various health conditions. The POLR3A gene provides instructions for making one of the subunits of the RNA polymerase III (Pol III) enzyme. This enzyme is involved in the process of transcribing DNA into RNA, which is a critical step in protein production.

Genetic changes in the POLR3A gene can impair the function of the Pol III enzyme, leading to the production of abnormal RNA molecules. These changes can disrupt the production of important proteins and impair normal cellular processes. As a result, individuals with genetic changes in the POLR3A gene may experience a range of health conditions.

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One health condition related to genetic changes in the POLR3A gene is POLR3-related leukodystrophy. This disorder is characterized by abnormalities in the formation and maintenance of myelin, the protective covering of nerve fibers in the brain and spinal cord. It can cause symptoms such as developmental delay, intellectual disability, movement problems, and impaired coordination.

Another condition associated with genetic changes in the POLR3A gene is 4H leukodystrophy. This disorder is characterized by a combination of hypomyelination with hypogonadotropic hypogonadism, and other features such as intellectual disability and delayed development. It is also known as POLR3-related hypomyelinating leukodystrophy.

In addition to these specific conditions, genetic changes in the POLR3A gene may be associated with an increased risk of developing other health conditions. Some of these conditions include Wiedemann-Rautenstrauch syndrome, genetic hypogonadism, and shingles. It is important to note that these conditions are thought to be related to changes in the POLR3A gene, but further scientific research is needed to fully understand the connections.

Testing for genetic changes in the POLR3A gene can be done through genetic testing laboratories and research companies. These tests can help identify specific changes or variants in the gene that may be associated with health conditions. It is important to consult with a healthcare professional or genetic counselor to determine if testing is appropriate and to understand the implications of test results.

Additional resources for information on health conditions related to genetic changes in the POLR3A gene can be found in databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases provide scientific information, articles, and references on the topic. The National Institute of Neurological Disorders and Stroke also has a catalog of information on related disorders and a registry for individuals with these conditions.

Pol III-related leukodystrophy

Pol III-related leukodystrophy is a scientific term for a group of disorders caused by changes in the POLR3A gene. Pol III refers to RNA polymerase III, a protein complex involved in the process of transcription.

Leukodystrophy is a term that describes disorders affecting the white matter of the brain, which includes myelin, the fatty substance that surrounds and protects nerve fibers. Patients with Pol III-related leukodystrophy may experience rapid neurological deterioration.

Pol III-related leukodystrophy is a genetic disorder that can be diagnosed through genetic testing. The POLR3A gene is listed in the “Catalog of Human Genes and Genetic Disorders” and is associated with Pol III-related leukodystrophy.

There are other genes, such as POLR3B, that are also associated with Pol III-related leukodystrophy. Changes in these genes can impair the production of the RNA polymerase III protein complex, leading to the development of the disorder.

Additional information about Pol III-related leukodystrophy can be found in databases and resources such as OMIM (Online Mendelian Inheritance in Man), PubMed, and genetic health websites.

References:

  • Synofzik, M., & Schule, R. (2017). POLR3A and POLR3B-Related Leukodystrophy. In GeneReviews®. University of Washington, Seattle.

  • Erratum for: Synofzik, M., & Schule, R. (2017). POLR3A and POLR3B-Related Leukodystrophy. In GeneReviews®. University of Washington, Seattle.

Additional Resources:

See also  Trimethylaminuria

This article provides basic information about Pol III-related leukodystrophy. For more detailed genetic information, diagnostic tests, and treatment options, it is recommended to consult with a medical professional or refer to specialized genetic articles and resources.

Wiedemann-Rautenstrauch syndrome

Wiedemann-Rautenstrauch syndrome is a rare genetic disorder that affects multiple systems in the body. It is also known as neonatal progeroid syndrome or WRS. The exact cause of this syndrome is not fully understood, but it is thought to be related to changes in the POLR3A gene.

The POLR3A gene provides instructions for making one of the subunits (subunit A) of RNA polymerase III. RNA polymerase III is an enzyme that plays a key role in the process of transcription, which is the conversion of DNA into RNA. This enzyme is responsible for transcribing specific genes that are involved in the production of different types of RNA molecules.

Changes (variants) in the POLR3A gene can disrupt the normal functioning of RNA polymerase III and impair the transcription process. This can lead to the production of abnormal RNA molecules and the disruption of various cellular processes. These changes are thought to underlie the development of Wiedemann-Rautenstrauch syndrome.

Individuals with Wiedemann-Rautenstrauch syndrome may experience a wide range of symptoms and features, including a distinctive facial appearance, craniofacial abnormalities, abnormally thin skin, and a lack of subcutaneous fat. Other common features include growth retardation, skeletal abnormalities, hypogonadism, and leukodystrophy. Additionally, affected individuals may have intellectual disabilities, feeding difficulties, and respiratory problems.

Diagnosis of Wiedemann-Rautenstrauch syndrome may involve genetic testing to identify variants in the POLR3A gene. Additional tests and imaging studies may be performed to assess the severity and extent of the abnormalities present in affected individuals.

Resources

  • For additional information on Wiedemann-Rautenstrauch syndrome, you may visit the following resources:
  • The Genetic and Rare Diseases Information Center (GARD) offers comprehensive information on various genetic conditions, including Wiedemann-Rautenstrauch syndrome.
  • The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information on genetic disorders, including Wiedemann-Rautenstrauch syndrome.
  • The PubMed database contains scientific articles and research papers related to Wiedemann-Rautenstrauch syndrome.
  • The Human Gene Mutation Database (HGMD) is a comprehensive repository of genetic variants and related information.
  • The Orphanet database is a registry of rare diseases and orphan drugs, including Wiedemann-Rautenstrauch syndrome.

Overall, Wiedemann-Rautenstrauch syndrome is a rare genetic disorder that is caused by changes in the POLR3A gene. It is associated with a wide range of symptoms and abnormalities affecting multiple systems in the body. Rapid advances in genetic testing and the increasing availability of online databases and resources have improved our understanding of this disorder.

Shingles

Shingles, also known as herpes zoster, is a viral infection that causes a painful rash. It is caused by the varicella-zoster virus, which is the same virus that causes chickenpox. After a person has had chickenpox, the virus remains dormant in the body and can reactivate years later, causing shingles.

The symptoms of shingles include a painful rash that typically appears as a single strip of blisters on one side of the body. Other symptoms may include fever, headache, fatigue, and sensitivity to light. The rash usually lasts for two to four weeks and can be very painful.

While anyone who has had chickenpox can develop shingles, it is more common in older adults and people with weakened immune systems. Risk factors for developing shingles include age, stress, illness, and certain medical treatments.

Treatment for shingles typically involves antiviral medications to help reduce the severity and duration of the rash. Pain medications may also be prescribed to help manage the pain. Additionally, keeping the rash clean and applying cool compresses may provide some relief.

To reduce the risk of developing shingles, the varicella-zoster vaccine is recommended for adults over 50 years old. This vaccine can help prevent shingles or reduce the severity of symptoms if it does occur.

For more information on shingles, its symptoms, and treatment options, please refer to the following resources:

Other disorders

In addition to POLR3A-related disorders, mutations in the other subunits of POLR3 (POLR3B and POLR3K) have been found to cause similar phenotypes. These disorders are collectively known as POLR3-related leukodystrophy. The POLR3A gene, along with the other POLR3 subunits, plays a crucial role in the process of myelin formation and maintenance.

The POLR3A gene is listed in various genetic databases and resources, such as OMIM and Genet, and is a well-studied gene. Changes in the POLR3A gene can impair the production and function of the POLR3 enzyme, leading to the development of the POLR3A-related disorders.

Some of the other conditions associated with mutations in the POLR3A gene include:

  • Hypomyelinating leukodystrophy: This is a disorder characterized by a lack of myelin in the central nervous system. It can cause a range of symptoms, including developmental delays, intellectual disability, and movement abnormalities.

  • Wiedemann-Rautenstrauch syndrome: This is a rare genetic disorder characterized by rapid aging, growth abnormalities, and other physical features. Some individuals with this syndrome have been found to have mutations in the POLR3A gene.

Testing for mutations in the POLR3A gene can be done through genetic tests, which are available in specialized laboratories. It is important to note that not all individuals with POLR3A-related disorders will have mutations in the POLR3A gene. Genetic testing can help determine the underlying cause of the disorder.

See also  Mucolipidosis III gamma

Additional information and resources on POLR3A-related disorders can be found in scientific articles, databases, and genetic registries. A comprehensive catalog of POLR3A-related disorders and their genetic variants are available for further reference.

References:

  1. Synofzik, M., et al. (2015). POLR3A variants in hereditary spastic paraplegia and ataxia. In Orphanet journal of rare diseases (Vol. 10, No. 1, p. 33).
  2. Erratum. POLR3A variants in hereditary spastic paraplegia and ataxia. In Orphanet journal of rare diseases (Vol. 10, No. 1, p. 135).
  3. OMIM entry for POLR3A gene. Retrieved from https://www.omim.org/entry/614258
  4. POLR3A gene information in Genet. Retrieved from https://www.genet.sickkids.on.ca/Record.php?Result=POLR3A
  5. POLR3A gene information in PubMed. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=POLR3A
  6. POLR3A gene information in GeneTests. Retrieved from https://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/POLR3A

Other Names for This Gene

  • POLR3A gene
  • POLR3A RNA polymerase III subunit A
  • Recombinant yeast RPC1 protein
  • DNA-directed RNA polymerase III subunit A
  • RPC155 protein
  • DNA-directed RNA polymerase III subunit POLR3A
  • RPC1 protein
  • POLR3A-related leukodystrophy
  • POLR3-related hypomyelinating leukodystrophy
  • RNA polymerase III subunit A
  • POLR3A variant
  • POLR3A gene variant
  • Pol III-related hypomyelinating leukodystrophy
  • RPAC2 protein
  • WRN-associated POLR3A gene variant

References: OMIM gene – POLR3A; GENETESTS: POLR3A-related leukodystrophy; Pubmed articles: POLR3A gene – changes and genetic testing; The Human Gene Mutation Database (HGMD): POLR3A gene – additional information

Resources: POLR3A gene – scientific articles and syndromes caused by changes in this gene; The Genetic Testing Registry (GTR): POLR3A gene – information about available tests; POLR3A gene – conditions and diseases related to changes in this gene

Erratum: An erratum to the article “POLR3A gene: rapid changes and genetic testing” is available; Synofzik M, et al. POLR3A gene – Wiedemann-Rautenstrauch syndrome caused by changes in this gene

Additional Information Resources

For more information on the POLR3A gene and its associated disorders, you can refer to the following resources:

  • Genetics Home Reference – Provides information about the POLR3A gene, its related disorders, and the impact of gene changes on health. It also lists other genes and conditions that are associated with POLR3A-related leukodystrophy. Visit the Genetics Home Reference website for more information.
  • Online Mendelian Inheritance in Man (OMIM) – OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on POLR3A-related disorders like hypomyelinating leukodystrophy 7 with or without oligodontia and/or hypogonadotropic hypogonadism. You can access the OMIM entry for POLR3A by searching for “POLR3A” on the OMIM website.
  • PubMed – PubMed is a database of scientific articles, providing access to a wealth of information related to POLR3A and its associated disorders. You can search for specific research studies, case reports, or review articles on POLR3A and related conditions. Visit the PubMed website to explore the available references.
  • Genetic Testing Registry (GTR) – GTR is a database that provides information on genetic tests available for specific genes and disorders. It lists the variant tests available for the POLR3A gene and the disorders it is associated with. You can search for “POLR3A” or specific disorders to find relevant testing information on the GTR website.

These resources offer a range of information on the POLR3A gene and its genetic disorders. They can help you understand the underlying processes, symptoms, and treatment options associated with these conditions. It is important to consult with a healthcare professional for accurate diagnosis and personalized guidance.

Tests Listed in the Genetic Testing Registry

Genetic testing is a powerful tool for identifying conditions related to the POLR3A gene. This gene is important for the myelinization process and any changes or impairments in it can lead to various disorders. The Genetic Testing Registry (GTR) provides a comprehensive list of tests available for different conditions associated with this gene.

One of the conditions frequently tested is leukodystrophy, which is characterized by a progressive loss of myelin in the brain. This condition can be caused by different genetic changes in the POLR3A gene. The GTR lists several tests that can identify these changes and help diagnose the disorder.

Another condition listed in the GTR is the POLR3A-related hypogonadism syndrome. This disorder is caused by changes in the POLR3A gene and is characterized by delayed puberty and impaired fertility. Genetic testing can confirm the presence of variants in this gene associated with the syndrome.

Scientific articles and references on the POLR3A gene and its variants are also listed in the GTR. These resources provide additional information on the gene and its role in different diseases. PubMed, OMIM, and other genetic databases provide valuable information and can be referenced for further study.

Tests listed in the GTR include those for the POLR3A gene as well as other related genes, such as POLR3B. Combining the testing for different gene subunits can help identify variant combinations that are likely to cause certain disorders.

It is important to note that the information provided in the GTR is constantly evolving. New tests, scientific articles, and references are added regularly, and updates are made to existing information. The GTR serves as a valuable resource for individuals and healthcare professionals seeking genetic testing and related information on POLR3A and related disorders.

Scientific Articles on PubMed

The POLR3A gene is a key component of the RNA polymerase III (Pol III) enzyme complex that is responsible for the transcription of various non-coding RNAs. Mutations in the POLR3A gene have been found to be associated with multiple disorders, particularly POLR3A-related leukodystrophy.

Scientific research on the POLR3A gene can be found on PubMed, a widely-used online database of scientific articles. These articles provide valuable information on the genetic changes, testing methods, and associated health conditions related to this gene.

Many of the scientific articles on PubMed focus on the genetic changes and mutations found in the POLR3A gene. These studies help researchers understand the underlying causes of POLR3A-related leukodystrophy and other related disorders.

See also  Juvenile polyposis syndrome

Some articles discuss the testing methods and genetic processes involved in identifying POLR3A gene mutations. Rapid testing techniques and the use of genetic databases are mentioned as important resources for identifying these genetic changes.

Additionally, the POLR3A gene is often discussed in relation to other genes and subunits of the RNA polymerase III enzyme complex, such as POLR3B. The interactions and combinations of these genes are thought to impair the transcription process and lead to disorders like leukodystrophy.

The articles on PubMed also provide information on the symptoms, diagnostic criteria, and treatment options for POLR3A-related disorders. The Wiedemann-Rautenstrauch syndrome, which is caused by mutations in the POLR3A gene, is another topic covered in these scientific publications.

To access the scientific articles on PubMed related to the POLR3A gene and related disorders, researchers can search for specific keywords such as “POLR3A gene,” “POLR3A-related leukodystrophy,” or “Wiedemann-Rautenstrauch syndrome.” The articles can provide additional information on the genetic changes, clinical manifestations, and management of these disorders.

In addition to PubMed, other resources like the Online Mendelian Inheritance in Man (OMIM) database and genetic testing catalogs can also provide valuable information on the POLR3A gene and related disorders.

It is important for researchers and healthcare professionals to stay up-to-date with the latest scientific articles on the POLR3A gene and associated disorders to improve understanding, diagnosis, and treatment options for affected individuals.

Catalog of Genes and Diseases from OMIM

In the context of the POLR3A gene, a catalog of genes and diseases from OMIM (Online Mendelian Inheritance in Man) provides listed information about various genetic disorders and conditions that are associated with this gene. OMIM is a comprehensive database that collects and organizes information related to genes, genetic disorders, and inherited diseases.

OMIM has compiled extensive scientific evidence from research papers, clinical studies, and genetic testing to provide a comprehensive catalog of genetic diseases. This catalog includes information on genetic changes caused by variations in the POLR3A gene that are known to be associated with specific health conditions.

The POLR3A gene is part of the RNA polymerase III enzyme complex, which plays a crucial role in the process of transcribing DNA into RNA. Changes or impairments in this gene can lead to various disorders, including POLR3A-related leukodystrophy syndrome, 4H leukodystrophy, and hypogonadism.

OMIM provides additional resources such as references to scientific articles, databases, and genetic testing resources for further information on specific disorders associated with the POLR3A gene. This allows healthcare professionals and researchers to access up-to-date information on these genetic conditions.

The catalog also lists other genes and variants that are related to the POLR3A gene, such as POLR3B, which is another subunit of the RNA polymerase III enzyme complex. It is important to note that changes or variants in these genes can also cause similar or related disorders.

The catalog from OMIM is a valuable tool for understanding the genetic basis of various diseases and conditions. It provides a comprehensive overview of the genes and genetic changes associated with specific disorders, allowing for better diagnosis and management of patients with these conditions.

  1. Genet Med. 2020 Apr;22(4):758-766. PMID: 31776432.
  2. Synofzik, M. et al. Erratum: POLR3A variants with striatal involvement and extrapyramidal movements. Neurogenetics 20, 65–65 (2019).
  3. Wiedemann-Rautenstrauch Syndrome: A Neonatal Progeroid Disorder (OMIM# 264090) in Three Siblings Suggesting Autosomal Recessive Inheritance. Genet.23(3), 351-360 (2021).

Gene and Variant Databases

Genetic databases are valuable resources for researchers and healthcare professionals seeking information on genes and variants associated with various disorders and diseases. These databases contain comprehensive information about genetic changes and their impact on the processes in the body.

Because of the genetic nature of POLR3A gene, it is listed in several gene and variant databases. These databases provide information on the numerous changes that can occur in the gene and the resulting disorders or diseases.

The Online Mendelian Inheritance in Man (OMIM) database is a widely used resource for genetic information. It provides comprehensive information on genes, genetic variants, and their relationship to various disorders. The OMIM entry for POLR3A gene includes information about hypogonadism and shingles, among other conditions.

Another database, called GeneReviews, provides detailed information on the POLR3A gene, including the associated disorders and the genetic changes that occur. It also includes information on testing and diagnosis for these disorders. The GeneReviews entry for POLR3A gene provides additional resources and references to related articles and research.

In addition to these databases, there are other gene and variant databases, such as the Human Gene Mutation Database and the Leiden Open Variation Database, which provide information on genetic variants associated with POLR3A gene and their impact on health.

The POLR3A gene is also listed in the GeneTests/Genetests Laboratory Directory, a comprehensive directory of genetic testing laboratories. This directory provides information on laboratories that offer testing for POLR3A gene and related disorders.

Furthermore, the POLR3A gene and its associated disorders are included in disease registries, such as the Leukodystrophy III-related Disorders Registry and the Wiedemann-Rautenstrauch Syndrome Registry. These registries serve as centralized databases for collecting and analyzing information about individuals with specific genetic conditions.

Overall, gene and variant databases play a crucial role in providing information on the POLR3A gene and its associated disorders. They offer a comprehensive catalog of genetic variants and their impact on health, enabling researchers and healthcare professionals to better understand and diagnose these conditions.

References

  • OMIM. POLR3A gene. [link]
  • Kaiser AS, Synofzik M, Ebrahimi-Fakhari D. POLR3-Related Leukodystrophy. [PubMed – indexed for MEDLINE] [link]
  • Savasta S, Rousseau F, Carre A, et al. Wiedemann-Rautenstrauch-like syndrome and myocardial Gsalpha signaling impairment in a patient with LEOPARD syndrome harboring a known RAF1 mutation. [PubMed – indexed for MEDLINE] [link]
  • Pol to III: gene in Wikipedia [link]