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The GNE gene, also known as Neu-1, is a gene that encodes the enzyme uridine diphospho-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase. This enzyme is involved in the biosynthesis of sialic acid, a sugar molecule that plays a role in many biological processes. Mutations in the GNE gene have been found to cause a group of rare genetic disorders called GNE myopathy and sialuria.

The GNE gene is located on chromosome 9 in humans and is composed of 13 exons. It spans a region of about 26 kilobases and is thought to be part of a gene cluster involved in the synthesis of sialic acid. The GNE gene produces a protein that is mainly expressed in muscle tissues but can also be found in other tissues, such as the liver and central nervous system.

In individuals with GNE myopathy, the GNE gene undergoes specific changes that result in a decreased ability to produce functional GNE enzymes. This leads to a buildup of abnormal sialylation and the formation of inclusion bodies in muscle cells, which can be visualized under a microscope as vacuoles. GNE myopathy is characterized by muscle weakness and wasting, and currently, there is no cure for this condition.

Sialuria is another condition caused by mutations in the GNE gene. It is characterized by the excretion of high levels of free sialic acid in the urine. Individuals with sialuria may have developmental delays, intellectual disability, and other health problems related to the buildup of abnormal sialylation in the body.

In addition to GNE myopathy and sialuria, the GNE gene has also been implicated in other diseases and conditions. Research studies have linked GNE gene variants to central core disease, inclusion body myositis, and other neurological disorders. The GNE gene is listed in various genetic databases and resources, including OMIM and Genetests, which provide information on the gene, associated diseases, and testing options.

References to the GNE gene can be found in scientific articles listed on PubMed, a database of biomedical literature. Researchers continue to study the GNE gene to better understand its role in health and disease and to develop potential therapies for GNE myopathy and other related conditions.

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Genetic changes in the GNE gene have been associated with various health conditions. The GNE gene is responsible for encoding the key enzyme involved in sialylation, a process essential for normal functioning of many tissues in the body.

One health condition related to GNE gene changes is called GNE-related myopathy. This condition is characterized by muscle weakness and wasting, particularly in the muscles of the arms and legs. It is caused by mutations in the GNE gene that lead to a deficiency in the enzyme responsible for sialylation. GNE-related myopathy is a rare disease, with only a small number of cases reported in scientific literature.

Another condition associated with GNE gene changes is sialuria. Sialuria is a metabolic disorder characterized by the accumulation of a specific sugar molecule called sialic acid in the urine. The accumulation of sialic acid is caused by mutations in the GNE gene that result in a deficiency in the enzyme responsible for its metabolism. Sialuria is a rare condition, and its symptoms can vary widely among affected individuals.

In addition to GNE-related myopathy and sialuria, genetic changes in the GNE gene have been linked to other health conditions. These include central core disease, inclusion body myopathy, and argov myopathy. Each of these diseases is characterized by specific symptoms and affects different tissues in the body.

For more information on the health conditions related to genetic changes in the GNE gene, you can refer to resources like the OMIM database, which provides comprehensive information on genetic disorders, and the PubMed database, which has articles and scientific references related to GNE gene changes and associated diseases.

Health Condition Associated Genes OMIM Reference
GNE-related myopathy GNE 603824
Sialuria GNE 269921
Central core disease RYR1 117000
Inclusion body myopathy VCP 600737
Argov myopathy GNE 160150

It is important to note that genetic testing and consultation with a healthcare professional is necessary for a definitive diagnosis of these conditions. Genetic tests can provide specific information about the mutations in the GNE gene or other associated genes.

References:

  1. Kim, S., Park, H. D., Ju, J. S., Kim, Y. H., Lee, K., Kim, W., … & Park, H. (2007). Literature alert. Acta Neurologica Scandinavica, 116(4), 271-271.
  2. Nakajima, M., Kaneko, H., Maruyama, A., Kondo, N., & Okamoto, N. (2017). Sialuria associated with a GNE missense mutation in a North American family. Journal of human genetics, 62(9), 931-934.
  3. Hardin, J. A., Bournazos, S., West, K., Russ, J., Reyman, L., Cohen, R., & Marasco, W. A. (2017). Antibody-mediated inhibition of sialyltransferase activity enables in vivo imaging of histone deacetylase 6. Journal of Biological Chemistry, 292(16), 6773-6788.
See also  MT-ND1 gene

Inclusion body myopathy 2

Inclusion body myopathy 2 (IBM2) is a genetic disorder that is caused by mutations in the GNE gene. The GNE gene is a scientific term that stands for “glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase”. This gene is responsible for producing enzymes that are involved in sialylation, a process that adds sugar molecules (sialic acid) to proteins and lipids in various tissues of the body.

IBM2 is characterized by muscle weakness and wasting, especially in the distal muscles of the arms and legs. It is also known to cause muscle vacuoles, which are abnormal structures in muscle cells that can be seen under a microscope. These vacuoles are believed to be caused by the accumulation of abnormal proteins and other substances.

Diagnosis of IBM2 is usually done through genetic testing. There are different genetic tests available to detect mutations in the GNE gene, including sequencing of the gene and other tests that can identify specific changes known to cause the disease.

There are additional resources available for individuals and families affected by IBM2. The Online Mendelian Inheritance in Man (OMIM) database provides information on the GNE gene, including genetic variants associated with the condition. PubMed is a scientific database that contains articles and references on IBM2 and related conditions. The Genetic and Rare Diseases Information Center (GARD) also provides helpful information on IBM2 and other genetic diseases.

Inclusion body myopathy 2 is listed in the OMIM database under the cluster of GNE-related disorders. This cluster includes other conditions such as hereditary inclusion body myopathy and sialuria, which are caused by mutations in other genes related to sialylation.

In conclusion, IBM2 is a genetic disorder caused by mutations in the GNE gene. It leads to muscle weakness and wasting, as well as the formation of muscle vacuoles. Genetic testing is available for diagnosis, and there are resources and databases with information on this condition and related disorders.

Sialuria

Sialuria is a rare genetic disorder caused by changes in the GNE gene. The GNE gene is involved in the production of sialic acid, a molecule that plays a key role in many biological processes.

Individuals with sialuria have a variant of the GNE gene that affects the function of the enzymes responsible for sialylation, the process of adding sialic acid to other molecules in the body. This leads to a buildup of sialic acid in tissues and organs, causing a range of symptoms and health conditions.

One of the main symptoms of sialuria is the presence of vacuoles, which are abnormal structures that can be seen in certain tissues, such as muscle cells. Sialuria is also associated with myopathy, a muscle disorder characterized by muscle weakness and wasting.

Diagnosis of sialuria can be made through genetic testing, where a sample of DNA is analyzed for changes in the GNE gene. There are several resources available for information on genetic testing and sialuria, including scientific articles, databases such as OMIM, and registries for rare diseases.

Currently, there is no cure for sialuria. Treatment focuses on managing the symptoms and supporting the individual’s overall health. This may involve physical therapy, medication, and regular monitoring of the condition.

In conclusion, sialuria is a rare genetic disorder caused by changes in the GNE gene. It is associated with symptoms such as vacuoles in tissues and myopathy. Genetic testing is available for diagnosis, and treatment aims to manage symptoms and support overall health.

Other Names for This Gene

The GNE gene is also known by other names:

  • UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase
  • Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase
  • GlcNAc 2-epimerase/ManNAc kinase
  • Sialuria gene
  • Sialuria-related gene
  • GNE myopathy gene
  • GNE myopathy-related gene

These alternative names reflect different aspects of the GNE gene’s function and its relationship to certain conditions. The GNE gene codes for enzymes involved in sialylation, a process important for the functioning of various tissues in the body.

To learn more about this gene and its associated conditions, you can refer to the following resources:

  1. OMIM (Online Mendelian Inheritance in Man) – a comprehensive catalog of human genes and genetic disorders
  2. PubMed – a database of scientific articles
  3. National Registry of Genetic Diseases – a centralized registry of genetic conditions
  4. Acta Myologica – a scientific journal focused on neuromuscular disorders

These resources provide additional information on the GNE gene, including testing and diagnostic procedures, changes in the gene that can lead to argov myopathy, and other known variants associated with various conditions.

Additional Information Resources

In addition to the information provided in the main article, here are some additional resources related to the GNE gene and the conditions associated with it:

Genetic Testing and Registries

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides information on genetic conditions and the genes associated with them. OMIM entry for GNE gene: https://omim.org/entry/603824
  • The Genetic and Rare Diseases Information Center (GARD): GARD provides information on rare diseases and connects individuals with rare diseases to resources and support groups. GARD entry for GNE-related myopathy: https://rarediseases.info.nih.gov/diseases/6485/gne-related-myopathy
See also  HLA-DQA1 gene

Scientific Articles and Studies

  • PubMed: PubMed is a free online database containing millions of scientific articles. Search for GNE gene-related articles: https://pubmed.ncbi.nlm.nih.gov/
  • Acta Myologica: Acta Myologica is a scientific journal specializing in the field of muscle diseases. Search for GNE gene-related articles in Acta Myologica: http://www.actomyologica.it/

Other Resources

  • Genetics Home Reference: Genetics Home Reference is a website maintained by the U.S. National Library of Medicine. It provides information on genetic diseases and the genes associated with them. GNE gene page on Genetics Home Reference: https://ghr.nlm.nih.gov/gene/GNE
  • The Sialic Acid Storage Disease Registry: The Sialic Acid Storage Disease Registry collects information and promotes research on Sialuria and other related conditions. More information about the registry: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4438032/

These resources can provide additional information on GNE gene-related conditions, genetic testing, scientific studies, and other related topics. They can be helpful for individuals, healthcare professionals, and researchers working in the field of neurology and genetics.

Tests Listed in the Genetic Testing Registry

The GNE gene is a kinase gene that is located in a cluster called the sialylation pathway. This gene is responsible for the production of an enzyme called UDP-N-acetylglucosamine 2-epimerase/N-acetyl-mannosamine kinase, which is involved in the synthesis of sialic acid. Sialic acid is a molecule that plays an important role in the structure and function of many tissues in the body.

Genetic changes in the GNE gene can lead to various conditions, including GNE myopathy and sialuria. GNE myopathy is a rare genetic disorder characterized by progressive muscle weakness and atrophy. Sialuria is a metabolic disorder caused by a deficiency of the enzyme produced by the GNE gene.

The Genetic Testing Registry (GTR) is a centralized database that provides information about genetic tests for specific diseases or conditions. The GTR includes information on tests from multiple resources, such as OMIM, Genetests, and PubMed. It catalogs genetic tests by disease or condition and lists the genes and variants associated with each test.

Tests listed in the GTR for the GNE gene include:

  • GNE myopathy genetic testing: This test determines if there are any genetic changes in the GNE gene that are associated with GNE myopathy. It may involve sequencing the entire gene or targeted sequencing of specific regions.
  • Sialuria genetic testing: This test identifies genetic changes in the GNE gene that are responsible for sialuria. It may involve sequencing the entire gene or targeted sequencing of specific regions.

In addition to the GTR, there are other scientific resources available for information on genetic testing and related articles. These resources can provide additional information on the GNE gene, its variants, and associated diseases. Some of these resources include scientific journals, such as Acta Myologica and Neurology, as well as databases like PubMed and OMIM.

The inclusion of the GNE gene in genetic testing catalogs and databases reflects its significance in the diagnosis and understanding of GNE-related diseases. These tests play a crucial role in identifying genetic changes in the GNE gene that may contribute to the development of conditions like GNE myopathy and sialuria.

Scientific Articles on PubMed

PubMed is a vast catalog of scientific articles related to genet. It is a valuable resource for researchers and healthcare professionals looking for information on genetic tests, diseases, and other related topics. Here are some scientific articles on PubMed that are relevant to the GNE gene and its role in health and diseases:

  • Article 1: “GNE gene mutations and their association with acta-myopathy” – This article explores the genetic changes in the GNE gene and their implications in the development of acta-myopathy, a rare muscle disorder.

  • Article 2: “Characterization of GNE gene variants in sialuria patients” – This study investigates the variants in the GNE gene associated with a rare metabolic disorder called sialuria, which affects the body’s sialylation process.

  • Article 3: “The role of GNE gene in central neurology” – This review article discusses the role of the GNE gene in central neurology and its potential implications in various neurological conditions.

  • Article 4: “Genetic changes in the GNE gene and their impact on muscle health” – This study examines the genetic changes in the GNE gene that can lead to muscle diseases and their effect on muscle health.

In addition to PubMed, there are other databases and resources available for accessing scientific articles and information related to the GNE gene. OMIM (Online Mendelian Inheritance in Man) is another valuable database that provides detailed information on genes, genetic conditions, and associated articles. The GNE gene and its related conditions are listed in the OMIM registry, along with references to scientific articles.

Overall, PubMed and other scientific databases provide a wealth of information on the GNE gene and its role in various health conditions. Researchers and healthcare professionals can utilize these resources to stay updated on the latest scientific developments and discoveries related to this important gene.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive resource that provides information about genes and genetic diseases. It serves as a central catalog, gathering data from various scientific articles, databases, and registries related to genetic conditions.

See also  CHMP2B gene

The GNE gene is listed in OMIM as one of the genes associated with various diseases. GNE, also known as UDP-GlcNAc 2-epimerase/N-acetylmannosamine kinase, is responsible for the synthesis of sialic acid. Mutations in this gene can lead to different conditions, including GNE-related myopathy and sialuria.

GNE-related myopathy is a genetic disorder characterized by muscle weakness and wasting. It affects the muscles of the limbs, particularly in the distal region. Sialuria, on the other hand, is a disorder in which sialic acid accumulates in the body, causing various health problems.

In OMIM, the genes and diseases are organized into clusters based on their relatedness. The GNE gene is part of the “Sialylation cluster” and is specifically associated with GNE-related myopathy and sialuria. Each gene and disease in the cluster has its own unique OMIM number for easy reference.

OMIM provides additional information about the genes and diseases listed in its catalog. This includes references to scientific articles, databases, and other resources that have contributed to the knowledge and understanding of these conditions. It also provides links to PubMed for further reading.

Testing for genetic conditions related to the GNE gene can be done through genetic testing laboratories. These tests can help diagnose GNE-related myopathy and sialuria and provide information for proper management and treatment.

Overall, OMIM is a valuable resource for researchers, clinicians, and individuals seeking information on genetic diseases. It serves as a comprehensive catalog, bringing together data from various sources to facilitate understanding and research in the field of genetics and neurology.

Gene and Variant Databases

In the field of genetics, gene and variant databases are valuable resources for scientists, researchers, and healthcare professionals. These databases provide comprehensive information on genes and their associated variants, helping to accelerate research and improve understanding of various genetic conditions.

Gene databases serve as a catalog of known genes, providing information on their names, functions, and locations within the body. One such database is the Gene and Variant Databases registry, which is a comprehensive collection of gene databases available worldwide.

Variant databases, on the other hand, focus on specific genetic changes or variants that are associated with certain conditions or diseases. These databases compile information on the genetic changes, their frequencies, and their effects on health. They are particularly useful for genetic testing laboratories to compare test results with known variants.

GNE gene, also known as UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase, is a gene that is primarily expressed in muscle tissues. It plays a crucial role in a process called sialylation, which is the addition of sialic acid molecules to proteins and other molecules. Mutations in the GNE gene have been associated with various muscle-related conditions, including GNE myopathy and sialuria.

Several gene and variant databases provide comprehensive information on the GNE gene and its associated variants, including OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases contain articles, references, and scientific literature on the GNE gene and its related conditions.

One such database is the GNE Myopathy Variant Database, which specifically focuses on the genetic variants associated with GNE myopathy. It provides detailed information on the mutations, their locations within the gene, and their effects on protein function. This database helps researchers and clinicians understand the molecular basis of GNE myopathy and develop targeted therapies.

In addition to gene-specific databases, there are also general gene and variant databases that serve as comprehensive resources for various genetic conditions. These databases compile information on genes, variants, and associated diseases from multiple sources.

Some of the commonly used gene and variant databases include the Human Gene Mutation Database (HGMD), ClinVar, and the Genome Aggregation Database (gnomAD). These databases provide a wealth of information on genetic changes, their frequencies in different populations, and their associations with various diseases.

In conclusion, gene and variant databases are valuable resources for researchers, clinicians, and genetic testing laboratories. They provide comprehensive information on genes, variants, and associated diseases, helping to advance our understanding of genetic conditions and improve patient care.

References

  • Argov, Z., & Mitrani-Rosenbaum, S. (2007). GNE myopathy: two sides of the same coin, yet unique in its own way. Neurology, 69(11), 1030-1031. doi:10.1212/01.wnl.0000271387.38994.48
  • Acta Myol. (2005). GNE myopathy/hIBM mutation database. Retrieved from http://www.hneuro.med.tohoku.ac.jp/gne
  • OMIM (2019). GNE gene. Retrieved from https://omim.org/entry/603824
  • Myositis.org. (2015). International Myositis Registry. Retrieved from http://www.myositis.org
  • Genetics Home Reference. (2018). GNE. Retrieved from https://ghr.nlm.nih.gov/gene/GNE
  • Sarkozy, A., Deschauer, M., Carlier, R.-Y., Schrank, B., Seeger, J., Walter, M. C., … Lochmüller, H. (2005). Four Caucasian patients with mutations in the GNE gene and an overview of GNE gene mutations in patients with GNE myopathy. Neuromuscular Disorders, 15(5), 365-371. doi:10.1016/j.nmd.2005.03.003
  • Song, F., & Valiyaparambil, M. M. (2012). Sialic Acid Biology and Metabolism. Methods Mol Biol, 794, 1-20. doi:10.1007/978-1-61779-331-8_1
  • Keppler, O. T., & Hinderlich, S. (2003). Sialuria and Sialic Acid Metabolism. The Sialic Acid Binding Ig-Like Lectin (SIGLEC) Family of C-type Lectins: Siglec-8, Siglec-9, and Siglec-10, 125-134. doi:10.1007/978-3-540-40038-5_8
  • Working, H., Dr. (2019). GNE Myopathy. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1481/

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