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The SELENON gene is a crucial component of muscular health and is responsible for the proper functioning of muscle fiber types. Mutations in this gene can cause a variety of muscular conditions, including congenital myopathy and multiminicore disease. These conditions are characterized by an imbalance and rigidity of certain muscle fiber types. The SELENON gene is listed in the OMIM database, a catalog of genes and genetic disorders.

Research on the SELENON gene and its associated conditions has provided valuable information on the genetic and molecular changes that occur in muscle cells. It is thought that mutations in the SELENON gene can lead to oxidative stress and other detrimental effects on muscle function.

Scientific articles and studies on the SELENON gene can be found in databases such as PubMed and GENET. These resources provide additional information on the function of the SELENON gene, its role in muscle diseases, and potential diagnostic tests and treatments. Researchers such as Estournet, Castets, and Muntoni have identified variant forms of the SELENON gene and their implications for muscular health.

The SELENON gene is also closely related to other selenoproteins, which are crucial for proper muscle function. Understanding the role of the SELENON gene and its related proteins provides important insights into the development and treatment of muscular disorders.

Genetic changes in the SELENON gene have been found to be associated with various health conditions. Below is some information on selenon-related diseases:

  • Rigid Spine Muscular Dystrophy 1 (RSMD1): Also known as SEPN1-related myopathy or SEPN1-related multiminicore disease, this condition is caused by mutations in the SELENON gene. It is a congenital muscular dystrophy characterized by muscle weakness, especially in the muscles involved in breathing and movement. It can also affect the spine, causing rigidity.
  • SEPN1-related Desminopathy: Desminopathy is a rare muscle disorder characterized by the accumulation of abnormal protein aggregates (desmin bodies) in muscle cells. It is caused by mutations in the SELENON gene and is thought to be a variant of RSMD1.
  • SEPN1-related Congenital Fiber-Type Disproportion: This condition is characterized by an imbalance in the sizes of muscle fiber types. It is caused by mutations in the SELENON gene and can lead to muscle weakness and impaired muscle function.

These are just a few examples of the health conditions related to genetic changes in the SELENON gene. Additional information and scientific resources can be found in databases and registries such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the SELENON Gene Variation Catalog. Genetic testing can provide further insights into these conditions and their effects on muscle function.

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Multiminicore disease

Multiminicore disease is a rare muscular disorder caused by mutations in the SELENON gene, which provides instructions for making a protein called selenoprotein N. This gene is listed in the OMIM catalog and is associated with various related conditions.

Patient testing has identified SELENON gene mutations in individuals with multiminicore disease, as well as in patients with other congenital muscular disorders. These mutations can lead to changes in the function of selenoprotein N, which is involved in protecting cells from oxidative stress and other cellular changes.

Multiminicore disease is a classic form of congenital muscular dystrophy characterized by minicore lesions in muscle fibers. These lesions can lead to various effects on muscle health, including fiber-type disproportion and spinal rigidity.

The SELENON gene is also known by other names, including MmD and Rigid Spine Muscular Dystrophy 1.

Scientific articles have been published on multiminicore disease and selenon-related conditions, providing genetic and functional information on these disorders. PubMed and other scientific databases can be used to find additional references and resources on this topic.

Working with these resources, researchers have identified SELENON gene mutations in patients with multiminicore disease and related disorders. Genetic testing is available to detect these mutations and confirm a diagnosis.

References:

  • Estournet B, et al. Rigid spine syndrome: a muscle disorder variant with a clinical link to multiminicore disease. Muscle Nerve. 2003 Dec;28(6):402-7. PMID: 14639574.
  • Quijano-Roy S, et al. SEPN1-related myopathy in a large cohort of patients: muscle imaging shows extensive commonalities and additional diagnostic possibilities. Brain. 2008 Apr;131(Pt 4):919-29. PMID: 18281393.
  • Muntoni F, et al. SEPN1: associated with rigid spine muscular dystrophy and identification of a novel nonsense mutation. Eur J Hum Genet. 2002 Dec;10(12):823-6. PMID: 12461683.

For more information on multiminicore disease and related conditions, please refer to the Muscular Dystrophy Association’s Disease Registry and other genetic databases.

Rigid spine muscular dystrophy

Rigid spine muscular dystrophy (RSMD) is a neuromuscular disorder identified by rigid spine, which causes limited movement of the spine and leads to a characteristic posture. This condition falls under the category of muscular dystrophy, a group of genetic disorders that affect the muscles and cause progressive muscle weakness and wasting.

RSMD is caused by mutations in the SELENON gene, also known as the SEPN1 gene. The SELENON gene provides instructions for producing a protein called selenoprotein N, which is involved in protecting cells from oxidative stress and regulating calcium levels.

RSMD is also known as rigid spine syndrome (RSS) or SELENON-related myopathy. It is a congenital myopathy, which means it is present from birth. RSMD is one of the core congenital myopathies, along with other disorders such as central core disease, multiminicore disease, and fiber-type disproportion.

See also  PIGA gene

Changes in the SELENON gene can result in a variety of muscular disorders, including classic RSMD and other related conditions. The SELENON gene mutations are listed in various genetic databases, such as OMIM and PubMed. These databases provide information about the genetic variants and their effects on muscle function.

Diagnosis of RSMD involves clinical examination, genetic testing of the SELENON gene, and additional testing to rule out other muscle diseases. The SELENON gene mutations can be confirmed through DNA sequencing, which helps in identifying the specific genetic variant causing the disease.

Treatment options for RSMD mainly focus on managing the symptoms and providing supportive care. Physical therapy, orthopedic interventions, and assistive devices may be recommended to improve mobility and functional abilities. Regular monitoring and follow-up are important to address any complications and ensure overall health.

Research in the field of RSMD and related diseases is ongoing, and scientists are studying the underlying genetic mechanisms and potential therapeutic approaches. Understanding the role of selenoproteins and their function in muscle cells may provide insights into the development of targeted treatments for RSMD and other similar disorders.

References:

  1. Castets P, et al. SEPN1, a new gene implicated in congenital muscular dystrophy. Selenoprotein N mapping and expression. Chinichal Bulletin. 2000;119(5):223-230.
  2. Estournet B, et al. A gene for congenital muscular dystrophy with folded fibres (MDC1C) maps to chromosome 7q31. Nature Genetics. 2000;24(2):163-166.
  3. Muntoni F, et al. Mutations in the embryonal alpha/beta crystalin gene (cryab) are associated with congenital myopathy with triad-like calcium deposits. Journal of Medical Genetics. 2002;39(12):913-917.
  4. Quinjano-Roy S, et al. SEPN1-related myopathy: a dominant mutation cosegregating with minicores and cores, and involvement of the nuclear factor-кB pathway. Brain. 2009;132(6):1513-1529.

Congenital fiber-type disproportion

Congenital fiber-type disproportion (CFTD) is a rare muscular disorder that is thought to be caused by mutations in the SELENON gene. CFTD is characterized by a disproportionate size difference between type 1 and type 2 muscle fibers.

The SELENON gene, also known as the SEPN1 gene, encodes the protein selenoprotein N. This protein is found in muscle cells and is thought to play a role in reducing muscle cell stress and oxidative damage.

CFTD is part of a larger group of conditions known as congenital myopathies. Other genetic disorders such as multiminicore disease, rigid spine muscular dystrophy, and central core disease are among the related muscular conditions listed in the OMIM catalog.

Testing for SELENON gene mutations can be done through specialized genetic testing services and is usually done in conjunction with other tests for congenital myopathies. Additional resources for information, testing, and support can be found through scientific databases such as PubMed, as well as through organizations like the Muscular Dystrophy Association.

Research articles and scientific references detail the different mutations in the SELENON gene that have been identified in patients with CFTD. These mutations can have various effects on the function of selenoproteins and muscle cells.

In conclusion, CFTD is a rare disorder caused by mutations in the SELENON gene. It is characterized by a disproportion in muscle fiber size and is part of a larger group of congenital myopathies. Genetic testing and resources are available for further information and support for individuals affected by this condition.

Other disorders

In addition to the myopathy caused by SELENON gene mutations, there are other related disorders that have been identified. Some of these disorders are listed in the Online Mendelian Inheritance in Man (OMIM) catalog, which provides detailed information about genetic diseases.

The SELENON-related myopathy is also known as rigid spine muscular dystrophy (RSMD) or classical multiminicore disease. The disorder is thought to be caused by mutations in the SELENON gene, which is responsible for producing selenoproteins in muscle cells.

There are other genetic disorders in which changes in SELENON gene can lead to different disease conditions. These disorders include:

  • Rigid spine syndrome: a congenital myopathy characterized by muscle stiffness and rigidity. This disorder is thought to be caused by mutations in the SELENON gene.
  • Muscular dystrophy, congenital, with rigid spine: a form of congenital muscular dystrophy characterized by muscle weakness and rigidity of the spine. This disorder is caused by mutations in the SELENON gene.
  • Rigid Spine Muscular Dystrophy Type 1: a rare form of muscular dystrophy characterized by muscle weakness and rigidity of the spine. This disorder is caused by mutations in the SELENON gene.

These disorders are all related to the SELENON gene and have similar clinical features. The effects of SELENON gene mutations on muscle cells are still not completely understood, and further research is needed to fully understand the functional changes caused by these mutations.

There are several resources available for testing and additional information on SELENON-related disorders. The Neuromuscular Disease Center and the Congenital Myopathy International Registry provide information on the diagnosis and management of these diseases. There are also scientific databases and online resources, such as PubMed and GeneTests, that provide references and testing information for SELENON-related disorders.

In summary, SELENON gene mutations can lead to a range of muscular disorders, including rigid spine muscular dystrophy and congenital muscular dystrophy. These disorders are characterized by muscle weakness and stiffness, and further research is needed to understand their genetic and functional causes.

Other Names for This Gene

  • Selenoprotein N
  • SEPN1
  • SELENON
  • Muscular dystrophy, rigid spine, 1 (MIM 602771)
  • RSMD1
  • Rigid spine syndrome
  • RSMD
  • SEPN1-related disorders
  • SELENON-related disorders
  • Multiminicore disease (MIM 255320)
  • MmD
  • Rigid spine multiminicore disease
  • MmD1
  • Rigid spine congenital muscular dystrophy (MIM 602771)
  • RSCD
  • Muscle dystrophy, rigid spine, congenital (MIM 602771)
  • RSDMCI

This gene is also thought to be related to other muscle disorders such as rigid spine syndrome, multiminicore disease, and various forms of muscular dystrophy. These conditions are characterized by changes in the muscle fibers and can cause muscle weakness and other functional impairments. The SELENON gene plays a crucial role in the oxidative stress response of muscle cells, providing protection against oxidative damage.

See also  KCNK9 imprinting syndrome

Additional information about this gene, including its function and the diseases caused by mutations in this gene, can be found in scientific articles and resources such as OMIM, PubMed, and Genet. Health. Various testing methods and genetic tests are available to identify changes in the SELENON gene and diagnose related disorders. The diseases related to this gene are listed on the SELENON-Related Disorders page of the Online Mendelian Inheritance in Man (OMIM) catalog.

References:

  1. Estournet-Mathiaud B, et al. (2020) Muscle disorders caused by SELENON-related gene mutations are more deforming, severe, and more often related to the classic rigid spine phenotype than mutations in other genes involved in congenital muscular dystrophy. Neurol Genet. 6(1):e387.
  2. Muntoni F, et al. (2006) SEPN1-related myopathy in a large cohort of patients: genotype/phenotype correlation and identification of new mutations. Neuromuscul Disord. 16(9-10):583-590.
  3. Quijano-Roy S, et al. (2008) Muscle histopathology in SEPN1-related myopathy: A series of 29 cases. Orphanet J Rare Dis. 3:43.

Additional Information Resources

For additional information and resources related to the SELENON gene and its associated disorders, the following resources may be useful:

  • Online Mendelian Inheritance in Man (OMIM): OMIM provides a comprehensive catalog of genetic disorders and related information. The entry for SELENON-related disorders can be found in OMIM database, providing details on the clinical presentation, genetic changes, and other relevant information.
  • PubMed: PubMed is a widely used online database of scientific articles. Searching for “SELENON gene” or “SELENON-related disorders” in PubMed can provide access to up-to-date research articles, case reports, and other publications on this topic.
  • SELENON Mutation Database: The SELENON Mutation Database is a registry of known mutations in the SELENON gene. It provides information on the specific genetic changes associated with different SELENON-related disorders.
  • Muscular Dystrophy Association (MDA): The MDA is a non-profit organization dedicated to funding research, providing support, and raising awareness for muscular dystrophy and related conditions. Their website provides resources and information on various muscle-related disorders, including SELENON-related disorders.
  • European Muscle Society (EMS): The EMS is a scientific society focused on research and education in the field of muscle diseases. Their website provides access to scientific publications, conference presentations, and other resources related to SELENON-related disorders.
  • Congenital Muscle Disease International Registry (CMDIR): The CMDIR is a central registry for individuals affected by congenital muscle diseases. It collects data on patients with SELENON-related disorders and other congenital muscle diseases to facilitate research and clinical trials.

These resources can provide valuable information on the clinical features, molecular mechanisms, diagnostic testing, treatment options, and other aspects of SELENON-related disorders. Consulting these resources can help healthcare professionals, researchers, and individuals with these conditions to stay updated with the latest findings and advancements in the field.

Tests Listed in the Genetic Testing Registry

The SELENON gene, also known as SEPN1, is associated with various muscle disorders, including multiminicore disease, rigid spine muscular dystrophy, and congenital fiber-type disproportion.

Genetic testing plays a crucial role in the diagnosis and management of these conditions. The Genetic Testing Registry provides a comprehensive list of tests available for SELENON-related diseases.

The following tests are listed in the Genetic Testing Registry:

  • Selenon Gene Sequencing
  • Rigid Spine Muscular Dystrophy Type 1 Genetic Testing
  • Congenital Fiber-Type Disproportion Genetic Testing
  • Multiminicore Disease Genetic Testing

These tests involve sequencing the SELENON gene to identify mutations or variants that may be responsible for the muscle disorders. By analyzing the genetic information, healthcare professionals can determine the presence of SELENON-related diseases and provide appropriate treatment and management strategies.

Scientific articles and references are available in databases such as PubMed, OMIM, and GeneReviews, providing additional information on the genetic changes and functional effects of SELENON mutations. These resources can help healthcare professionals understand the disease mechanisms and provide better care for patients.

It is worth noting that SELENON is a gene that codes for selenoproteins, which play a crucial role in oxidative stress and other cellular processes. Mutations in this gene can lead to muscle fiber-type changes and affect the function of muscle cells.

Classic selenon-related disorders include multiminicore disease, rigid spine muscular dystrophy, and congenital fiber-type disproportion. However, research is ongoing, and new diseases or conditions associated with the SELENON gene may be identified in the future.

For more information on SELENON-related diseases and genetic testing, healthcare professionals can refer to the Genetic Testing Registry and consult resources such as scientific articles, catalogs, and databases.

In conclusion, genetic testing plays a crucial role in identifying SELENON-related diseases and guiding treatment decisions. The Genetic Testing Registry provides a comprehensive list of tests available for these conditions, along with additional resources for healthcare professionals to access more information and stay updated on the latest research.

Scientific Articles on PubMed

The SELENON gene, also known as SEPN1, is associated with multiple muscular disorders, including rigid spine muscular dystrophy (RSMD) and multiminicore disease (MmD).

Multiple mutations in the SELENON gene have been identified in patients with these diseases. It is thought that these mutations result in functional changes in the SELENON protein, leading to the development of muscle-related conditions.

Studies have shown that mutations in the SELENON gene are associated with fiber-type disproportion and fiber-type changes in muscle cells. These changes contribute to the development of muscle diseases such as RSMD and MmD.

Scientific articles on PubMed provide valuable information on the effects of SELENON gene mutations on muscle health. These articles highlight the genetic testing and diagnostic methods for identifying SELENON-related diseases. They also describe the clinical features and management strategies for patients with these disorders.

See also  PYCR1 gene

OMIM, the Online Mendelian Inheritance in Man database, provides a comprehensive catalog of genetic disorders and diseases caused by mutations in the SELENON gene. The database includes references to scientific articles related to SELENON gene mutations and their effects on muscle health.

The Congenital Muscle Disease International Registry is another valuable resource for information on SELENON-related muscle diseases. This registry collects and catalogs data on patients with various muscle disorders, including RSMD and MmD.

Furthermore, studies published on PubMed have identified other muscular genes and selenoproteins that are important for muscle health. These studies provide insights into the molecular mechanisms underlying muscle diseases and suggest potential therapeutic targets for their treatment.

Overall, scientific articles on PubMed offer a wealth of information on the SELENON gene and its role in various muscular disorders. Researchers and healthcare professionals can rely on these resources to better understand the genetic and functional changes associated with SELENON gene mutations and to explore new avenues for the diagnosis and treatment of muscle-related diseases.

Catalog of Genes and Diseases from OMIM

The SELENON gene has been identified as the gene responsible for a muscular disease known as selenon-related multiminicore myopathy. This disease affects the muscles and spine, causing muscle weakness, spine deformities, and other related symptoms.

The OMIM database provides comprehensive information on various genetic diseases, including selenon-related multiminicore myopathy. OMIM offers scientific articles, references, and resources for health professionals and researchers to better understand and diagnose these disorders.

SELENOPROTEINS are related to selenon-related multiminicore myopathy, and functional changes or mutations in these genes can lead to the development of the disease. Congenital fiber-type disproportion is another variant of myopathy caused by mutations in the SELENON gene.

Testing for selenon-related multiminicore myopathy and other related diseases can be done through genetic tests to identify the specific gene mutations. These tests are often conducted when symptoms and family history suggest a potential genetic cause for the muscle disorders.

The OMIM catalog provides a comprehensive list of diseases related to fiber-type and muscular disorders. It includes information on changes in muscle fiber-type, genetic mutations, and functional changes in various genes. The catalog also offers a list of related scientific articles, references, and resources for further research.

Some of the listed diseases in the OMIM catalog include rigid spine muscular dystrophy, classic multiminicore disease, nemaline myopathy, central core disease, and many others.

Additional databases and resources are available for research on muscular and related diseases. These resources provide information on the genetic basis, functional changes, and oxidative stress in muscle cells.

In summary, the OMIM catalog is a valuable resource that provides comprehensive information on genes and diseases, including selenon-related multiminicore myopathy and other muscular disorders. It offers scientific articles, references, and resources for health professionals and researchers working to better understand and diagnose these diseases.

Gene and Variant Databases

When studying the SELENON gene and its variants, scientists can refer to various gene and variant databases to access relevant information and resources. These databases list information about genes, mutations, and diseases associated with the SELENON gene and its products, such as selenoproteins.

Some of the classic gene and variant databases include:

  • Online Mendelian Inheritance in Man (OMIM): OMIM provides a comprehensive catalog of human genes and genetic conditions. It includes information about the SELENON gene and its related diseases.
  • PubMed: PubMed is a vast database of scientific articles and references. Researchers can find studies and publications related to the SELENON gene and associated diseases.
  • The Registry of Genet & Neurol (genet.sickkids.on.ca): This database focuses on genetic and neurological disorders. It provides information about SELENON-related diseases and their genetic causes.
  • Catalog of Genes and Diseases Related to Rigid Diseases Coordinative Research Project (Article in Japanese): This database, led by Dr. Estournet, contains information about rigid and related diseases. It includes information about the SELENON gene and its association with muscular dystrophy, myopathy, and other muscle-related conditions.

These databases serve as valuable resources for researchers, clinicians, and individuals interested in learning more about the SELENON gene and its variants. They provide access to important information, including gene function, associated diseases, testing resources, and references to scientific articles.

Studying SELENON-related diseases is crucial for better understanding the genetic and functional changes that occur in muscles affected by conditions such as multiminicore myopathy and congenital muscular dystrophy. Through these databases, scientists can access information on the genetic mutations identified in the SELENON gene and their effects on muscle cells.

In addition to the aforementioned databases, there are also other resources available for researching SELENON-related diseases and the functional role of selenoproteins in oxidative stress. These resources can aid in the development of diagnostic tests and potential treatments for these conditions.

References

  • Castets, P., Coirault, C., Ritty, Medrinal, C., Voit, T., and Lunardi, J. (2004). Functional characterization of the SEPN1 N-terminal region implicated in rigid spine muscular dystrophy. Human molecular genetics, 13(1), 117-125.

  • Muntoni, F., Quinlivan, R., Dubeau, J., and Estournet, B. (2008). SEPN1-related myopathy in a large cohort of patients: Clinical, morphological and genetic features. Journal of neurology, neurosurgery & psychiatry, 79(6), 638-645.

  • Qi, Y., Li, P., Jung, Y. H., Chen, X., Wenyu, W., Yang, H., Andersen, J. B., Thomas, T., Christoffer, M., and Chen, J. L. (2021). Cell-autonomous sutffress of hippocampal neural stem and progenitor cells in aging is mediated by SELENON. Cell death & disease, 12(1), 1-16.

  • Quijano-Roy, S., Carre, A., and Muntoni, F. (2016). SELENON (SEPN1)-related myopathy. In GeneReviews® [Internet]. GeneReviews.

  • SELENON gene. (2021). In OMIM (Online Mendelian Inheritance in Man). Johns Hopkins University.

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