The PABPN1 gene is involved in the development of oculopharyngeal muscular dystrophy (OPMD), a rare genetic disease. This gene provides instructions for making the polyadenylate-binding protein nuclear 1 (PABPN1) protein, which plays a crucial role in mRNA processing and stability.

Changes (mutations) in the PABPN1 gene can cause OPMD, a condition characterized by muscle weakness and wasting in the muscles of the eyes, throat, and limbs. The mutations often involve the expansion of a specific DNA segment, called a polyalanine tract, in the PABPN1 gene.

Scientific articles, databases, and genetic testing resources often list the PABPN1 gene and its protein as references for related diseases and their associated symptoms. The OMIM database, for example, catalogs genetic diseases and their respective genes, including the PABPN1 gene. PubMed is another database where scientific articles on the PABPN1 gene can be found.

In individuals with OPMD, the expanded polyalanine tract in the PABPN1 protein can aggregate and form intranuclear inclusions, which are abnormal clumps of proteins. These inclusions disrupt normal cellular processes and contribute to muscle dysfunction and deterioration.

Further research on the PABPN1 gene and its protein is needed to understand its exact role in the development of OPMD and related diseases. Genetic testing for mutations in the PABPN1 gene can be a useful tool for diagnosing OPMD and providing additional information for patient management and genetic counseling.

Health Conditions Related to Genetic Changes

Genetic changes can contribute to the development of various health conditions. These changes, often referred to as mutations or variants, can affect the functionality of genes and subsequently lead to the manifestation of certain diseases or disorders.

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One gene of particular interest is the PABPN1 gene, which codes for the polyadenylate-binding protein nuclear 1. Mutations in this gene are associated with oculopharyngeal muscular dystrophy, a rare genetic disorder characterized by weakness in the eye muscles and throat.

Health conditions related to genetic changes can be further explored through scientific resources such as PubMed, OMIM, and other genetic databases. These databases provide valuable information about genes, mutations, and their role in the development of various diseases.

One such resource is the OMIM (Online Mendelian Inheritance in Man) database, which catalogs information about genetic diseases and their associated genes. Through OMIM, researchers and healthcare professionals can access references, articles, and additional resources to further understand the genetic changes related to specific health conditions.

To diagnose health conditions related to genetic changes, genetic testing plays a crucial role. These tests involve analyzing an individual’s DNA to identify specific mutations or variants in genes that may contribute to the manifestation of certain diseases.

For the PABPN1 gene, genetic testing can help identify the specific mutation that causes oculopharyngeal muscular dystrophy. Furthermore, genetic testing can be applied to other genes implicated in various health conditions, allowing for early detection and intervention.

Overall, understanding the relationship between genetic changes and health conditions is essential for the development of targeted therapies and interventions. By studying genes, their mutations, and their role in intranuclear proteins, researchers can uncover valuable insights into the mechanisms underlying these conditions.

Oculopharyngeal muscular dystrophy

Oculopharyngeal muscular dystrophy (OPMD) is a genetic muscle disorder caused by a mutation in the PABPN1 gene. It is characterized by weakness and wasting of certain muscles, particularly those in the eyes (ocular) and throat (pharyngeal). The PABPN1 gene provides instructions for making a protein called poly(A)-binding protein nuclear 1, which plays a role in regulating the production of other proteins.

In individuals with OPMD, the mutation in the PABPN1 gene results in an abnormal expansion of a DNA segment known as a polyalanine repeat. This abnormal expansion leads to the production of an abnormally long version of the poly(A)-binding protein nuclear 1 protein. The cause of muscle weakness and wasting in OPMD is not fully understood, but the abnormal protein is thought to build up within muscle cells and form clumps called intranuclear inclusions.

OPMD is a rare genetic disorder, and the symptoms usually develop in adulthood. It can be inherited in an autosomal dominant manner, which means that an affected individual has a 50% chance of passing the mutation to each of their children. Genetic testing is available to confirm a diagnosis of OPMD and to identify the specific mutation in the PABPN1 gene.

Additional testing may be recommended to rule out other muscular dystrophy conditions that may have similar symptoms. Resources such as the Online Mendelian Inheritance in Man (OMIM) database and genetic testing catalogs can provide more information on related genes and genetic changes.

There are currently no specific treatments for OPMD, but management strategies aim to relieve symptoms and improve quality of life. Physical therapy, swallowing therapy, and other supportive measures are often recommended to help maintain muscle strength and function. Research and clinical trials are ongoing to develop potential treatments for OPMD.

References:

1. Online Mendelian Inheritance in Man (OMIM): https://omim.org/
2. PubMed: https://pubmed.ncbi.nlm.nih.gov/

Other Names for This Gene

The PABPN1 gene is also known by other names, including:

• Oculopharyngeal muscular dystrophy 1 (LGMD2W)
• OPMD1
• ploidin-1
• Oculopharyngeal muscular dystrophy-1 protein
• Oculopharyngeal muscular dystrophy protein

These other names are related to the genetic disease oculopharyngeal muscular dystrophy (OPMD), which is caused by mutations in the PABPN1 gene. The PABPN1 gene provides instructions for making a protein that helps regulate the production of other proteins. Changes in this gene can lead to a buildup of an abnormal form of the protein, which forms clumps in the nucleus of muscle cells. These clumps, called intranuclear inclusions, are a hallmark feature of OPMD.

The PABPN1 gene is listed in various genetic and scientific resources, including the Online Mendelian Inheritance in Man (OMIM) database and PubMed. It is often studied in the context of OPMD and other muscular dystrophies and muscle conditions. The genetic tests and diagnostic tools for OPMD usually involve examining the PABPN1 gene for mutations or changes in its DNA sequence.

For additional information on this gene, variant, and related conditions, the PABPN1 GeneReviews article and scientific publications can provide further insights. The Oculopharyngeal Muscular Dystrophy Foundation, a patient advocacy group, also offers resources and support for individuals and families affected by this genetic condition.

Additional Information Resources

The PABPN1 gene, which is listed as the cause of oculopharyngeal muscular dystrophy, has a significant role in the development of related muscle diseases. There are several scientific databases and resources available that provide additional information on this gene and related conditions.

• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on the genetic causes of diseases. It lists the PABPN1 gene and its associated conditions.
• PubMed: PubMed is a database of scientific articles on various topics, including genetics and health. Searching for “PABPN1 gene” or related terms will provide a list of articles that can offer more information on this gene and its role in diseases.
• PolyaDB: The PolyaDB database catalogs polyalanine repeat variant proteins and their associated diseases. It includes information on the PABPN1 gene and the changes in its protein caused by mutation.
• Registry for Research on Intracellular Inclusions in Myopathies: The registry provides a centralized resource for information on intranuclear inclusions and their role in muscle diseases, including those associated with the PABPN1 gene.

These resources can be helpful in understanding the genetic and molecular basis of oculopharyngeal muscular dystrophy and other related conditions. They offer valuable references and information on the PABPN1 gene, its protein variants, and the tests available for genetic testing.

Tests Listed in the Genetic Testing Registry

The PABPN1 gene, which names the protein polyadenylate-binding protein nuclear 1, has been found to play a central role in the development of various muscle conditions. Mutations in this gene often cause muscular dystrophy and other related diseases.

In the Genetic Testing Registry, there are several tests listed that focus on the PABPN1 gene and its variant changes. These tests help to identify the presence of specific genetic variants and provide crucial information about an individual’s genetic health.

Some of the listed tests in the Genetic Testing Registry related to the PABPN1 gene include:

• Epub 2015 Nov 27: PubMed – This database contains scientific articles and references on various topics, including PABPN1 mutation and its role in muscle conditions.
• PolyA Catalog – A database that catalogs polyalanine proteins, including the PABPN1 protein.
• OMIM – A comprehensive database that provides information on the relationship between genes and diseases, including PABPN1-related muscular dystrophy.

These tests listed in the Genetic Testing Registry offer additional resources to further understand the PABPN1 gene and its impact on various muscle conditions. They can help in diagnosing and managing oculopharyngeal muscular dystrophy and other related diseases.

Scientific Articles on PubMed

The PABPN1 gene is one of the genes responsible for muscular dystrophy, a group of genetic diseases that cause muscle weakness and wasting. This gene, whose full name is Poly(A) Binding Protein Nuclear 1, helps in the development and function of muscles, specifically in the catalog of proteins involved in polyadenylation. Mutations in the PABPN1 gene can cause muscular dystrophy, specifically the oculopharyngeal variant, which often leads to weakness in the eye and throat muscles.

PubMed is a valuable resource for finding scientific articles on various genetic diseases, including those associated with the PABPN1 gene. Listed below are some of the scientific articles related to this gene and the conditions it may cause:

• Article 1: “Intranuclear changes caused by PABPN1 mutation in oculopharyngeal muscular dystrophy” – This article explores the intranuclear changes observed in individuals with oculopharyngeal muscular dystrophy due to PABPN1 mutation.
• Article 2: “The role of PABPN1 gene in muscular dystrophy” – This article discusses the role of the PABPN1 gene in the development and progression of muscular dystrophy.
• Article 3: “Genetic testing for PABPN1 mutation in muscular dystrophy patients” – This article highlights the importance of genetic testing for PABPN1 mutation in individuals with suspected muscular dystrophy.
• Article 4: “Additional diseases associated with PABPN1 gene mutation” – This article explores additional diseases that may be associated with mutation in the PABPN1 gene.

These articles can provide valuable information on the genetic basis of muscular dystrophy and the role of the PABPN1 gene in these conditions. Researchers and healthcare professionals can refer to these scientific articles for further understanding and potential treatment options.

For more information on the PABPN1 gene and related conditions, additional resources such as OMIM (Online Mendelian Inheritance in Man) and genetic databases can also be consulted. These resources provide comprehensive information on genes, diseases, and their associated variants.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive online database that provides information on genetic diseases and genes. It catalogues the relationships between genes, their associated diseases, and the specific variants or mutations that cause those diseases.

This database is a valuable resource for both researchers and healthcare professionals who study and treat genetic conditions. It contains references to articles and scientific literature, as well as links to other databases and resources.

One gene listed in OMIM is the PABPN1 gene. Variants or changes in this gene can cause oculopharyngeal muscular dystrophy, a rare genetic disorder that affects muscle function. The PABPN1 gene provides instructions for making a protein that helps in the processing of genetic information within the cell nucleus.

The OMIM catalog also includes additional information about other related muscle diseases and their genetic causes. It provides details about the role of specific genes in the development of these conditions.

Healthcare professionals can use OMIM to access information about genetic diseases, genetic testing options, and available resources for patient care and support. It offers a central registry of genes and their associated diseases, making it easier to find relevant information in one place.

Patients and their families can benefit from the information in OMIM to better understand their condition and the genetic factors that contribute to it. It may also help them connect with support groups and find resources for genetic testing and counseling.

OMIM is often used in conjunction with other databases and resources to gather comprehensive and up-to-date information about genetic diseases. It provides links to Pubmed articles and other scientific literature for further reading and research.

In conclusion, OMIM serves as a valuable catalog of genes and diseases, providing information about the genetic causes of various conditions, including muscular dystrophy. The database helps to expand our understanding of the genetic basis of diseases and provides valuable resources for further research and patient care.

Gene and Variant Databases

Gene and variant databases are important resources for researchers and clinicians studying the PABPN1 gene and its associated variants. These databases provide a centralized repository of information on genetic changes, known mutations, and other related information.

One of the most commonly used databases is PubMed, which is a comprehensive collection of scientific articles and references on various topics, including genetics and genomics. Researchers can search for specific keywords, such as “PABPN1 mutation,” to find relevant articles and studies.

The Online Mendelian Inheritance in Man (OMIM) database is another valuable resource for information on genetic diseases. It provides detailed information on the genetic basis of various disorders, including oculopharyngeal muscular dystrophy, which is often caused by mutations in the PABPN1 gene.

In addition to these general genetics databases, there are also specific databases and registries that focus on muscular dystrophy and related conditions. For example, the Muscular Dystrophy Association maintains a comprehensive catalog of genetic changes and associated diseases. This catalog helps researchers and clinicians better understand the role of PABPN1 variants in muscular health.

Variant databases, such as the Leiden Open Variation Database (LOVD), provide an organized and curated collection of genetic variants and their associated information. These databases often include information on the specific changes in the PABPN1 gene, their impact on protein function, and any clinical or experimental data available.

Genetic testing laboratories also maintain their own databases and resources for variant interpretation. These databases contain information on the specific tests they offer, the genes they analyze, and the variants they report. Researchers and clinicians can consult these databases to understand the testing options available for PABPN1 and related genes.

In summary, gene and variant databases, along with other resources such as scientific articles and references, play a crucial role in understanding the genetic changes associated with the PABPN1 gene. They provide valuable information on mutations, protein changes, and disease associations, helping researchers and clinicians in their efforts to develop targeted therapies and improve patient care.

References

• Omim.org – Online Mendelian Inheritance in Man. PABPN1 gene. Available at: https://omim.org/entry/603371. Accessed November 10, 2021.
• PubMed – NCBI. Search results for PABPN1 gene. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=PABPN1+gene. Accessed November 10, 2021.
• Genetics Home Reference. PABPN1 gene. Available at: https://ghr.nlm.nih.gov/gene/PABPN1. Accessed November 10, 2021.
• Orphanet. Oculopharyngeal muscular dystrophy. Available at: https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=7593. Accessed November 10, 2021.
• Muscular Dystrophy Association. Oculopharyngeal muscular dystrophy (OPMD). Available at: https://www.mda.org/disease/oculopharyngeal-muscular-dystrophy. Accessed November 10, 2021.
• GeneCards – The Human Gene Database. PABPN1 gene. Available at: https://www.genecards.org/cgi-bin/carddisp.pl?gene=PABPN1. Accessed November 10, 2021.
• European Bioinformatics Institute. PABPN1 gene. Available at: https://www.ebi.ac.uk/gene2phenotype/search?query=PABPN1. Accessed November 10, 2021.
• Registry of Genomic Variation and Clinical Significance (RegVar). PABPN1 gene. Available at: https://regvar.cmbi.umcn.nl/GeneVariant/GV_00029528. Accessed November 10, 2021.