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The MTOR gene, also known as mechanistic target of rapamycin, is a gene listed in the OMIM database. This gene is involved in the development and cellular processes of various conditions and disorders. It has been found to be a common target in epilepsy and related disorders.

Scientific articles and publications on the MTOR gene can be found in databases such as PubMed. These resources provide valuable information on the gene’s role, its variants, and testing for genetic conditions associated with it. One such condition is the MTOR-related focal epilepsy syndrome, which is a rare disease causing severe epilepsy.

The MTOR gene is often studied in the context of the mTORC1 pathway, which is involved in cellular growth and metabolism. The gene’s role in this pathway makes it a potential target for therapeutic intervention. For example, the drug rapamycin, which inhibits mTORC1, has shown promise in treating conditions associated with MTOR gene mutations.

Research on the MTOR gene is ongoing, and new discoveries are constantly being made. The gene’s relationship to various disorders and its potential role as a therapeutic target make it an important focus of study for scientists and clinicians alike. As more is learned about the gene, it may lead to new diagnostic tests and treatment options for patients with MTOR-related conditions.

Genetic changes in the MTOR gene can cause various health conditions, including:

  • Epilepsy:

    • – Epilepsy is a condition characterized by recurrent seizures. It has been associated with genetic changes in the MTOR gene.

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  • Rapamycin-Sensitive Epilepsy Syndrome:

    • – This syndrome is listed under different names, such as “MTOR-related epilepsy” and “MTOR pathway-related epilepsy”. It is a rare neurodevelopmental disorder characterized by epilepsy that responds to treatment with rapamycin.

  • Developmental Disorders:

    • – Genetic changes in the MTOR gene can lead to various developmental disorders, including autism spectrum disorders and intellectual disability.

  • Cellular Overgrowth Syndromes:

    • – These syndromes are characterized by abnormal growth and development of cells and tissues. MTOR gene mutations have been found in various cellular overgrowth syndromes, such as Proteus syndrome and focal cortical dysplasia.

  • Cancer:

    • – The MTOR pathway has been implicated in the development of various types of cancer. Genetic changes in the MTOR gene can result in dysregulation of the pathway, contributing to the development and progression of cancer.

To diagnose health conditions related to genetic changes in the MTOR gene, genetic testing can be performed. This involves analyzing the DNA of an individual to identify specific changes or variants in the gene. Different resources can be used for genetic testing, including databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed, which contains scientific articles from various genetic and medical journals. Additionally, information on specific health conditions and related genetic changes can be found in disease registries and catalogs, such as the Focal Cortical Dysplasia International Consortium and the MTOR-Associated Neurological Disorders (MANTiS) registry.

Overall, understanding the genetic changes in the MTOR gene and their effects on cellular signaling pathways can provide valuable insights into the development of diseases and conditions related to dysregulation of the MTOR pathway. Further research and genetic testing are essential for accurate diagnosis, treatment, and management of these conditions.

Smith-Kingsmore syndrome

Smith-Kingsmore syndrome, also known as the Smith-Kingsmore Syndrome, is a cellular disorder caused by changes in the MTOR gene. It is listed in the OMIM catalog of genetic diseases. This syndrome is named after the two scientists, Smith and Kingsmore, who studied and discovered its genetic cause.

The MTOR gene is involved in the development and regulation of various cellular processes. Changes in this gene, such as somatic variants, result in abnormal activation of the mTORC1 pathway, which is a common target for therapeutic interventions.

Smith-Kingsmore syndrome is characterized by a range of neurological conditions, including epilepsy and focal epilepsy. The disorder is often diagnosed through genetic testing, which looks for changes in the MTOR gene.

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Scientific articles and references on Smith-Kingsmore syndrome can be found throughout various databases, such as PubMed. Researchers and healthcare professionals can access additional information on this syndrome and related genetic conditions through these resources.

  • PubMed – a database of scientific articles
  • OMIM – Online Mendelian Inheritance in Man catalog
  • The Smith-Kingsmore Syndrome Registry
  • Guerrini R. et al. (2019). Smith-Kingsmore Syndrome. Eur J Hum Genet.
  • Park J. et al. (2016). Targeted sequencing using a 47 gene epilepsy panel as a diagnostic tool for epileptic disorders. Epilepsia.
Resources for Smith-Kingsmore syndrome:

In conclusion, Smith-Kingsmore syndrome is a cellular disorder caused by changes in the MTOR gene. It is characterized by neurological conditions, such as epilepsy, and can be diagnosed through genetic testing. Researchers and healthcare professionals can find additional information on this syndrome and related conditions through scientific databases and resources.

Other disorders

The MTOR gene has been implicated in a number of other disorders, in addition to tuberous sclerosis complex. These disorders include:

  • Smith-Kingsmore syndrome
  • TSC-related epilepsy
  • Focal cortical dysplasia
  • Megalencephaly
  • Autism spectrum disorder
  • Macrocephaly

There have been studies and articles published on the relationship between the MTOR gene and these conditions. Some common references for further information on these disorders include:

  1. Cellular and molecular changes in the mTOR signaling pathway in the pathophysiology and treatment of epilepsy – PubMed
  2. Tuberous sclerosis – NIH Genetic Testing Registry
  3. MTOR-related diseases – OMIM (Online Mendelian Inheritance in Man)
  4. MTOR signaling and neural stem cell development – Smith-Kingsmore syndrome

These resources provide additional information and research on the implications of the MTOR gene in various disorders. They highlight the role of this gene in the cellular and molecular mechanisms leading to the development of these conditions.

In recent years, targeted therapies for MTOR-related disorders, such as rapamycin, have shown promising results in improving the health and quality of life for affected individuals. Ongoing research and clinical trials continue to explore the potential of these treatments.

Genetic testing and variant analysis of the MTOR gene can be useful in diagnosing and confirming these disorders. Somatic testing can also be conducted to identify specific genetic changes in affected tissues.

It is important for healthcare professionals and researchers to stay informed about the latest scientific findings and discoveries related to MTOR-related disorders. This knowledge can help improve diagnosis, treatment, and management approaches for individuals with these conditions.

Furthermore, the development of comprehensive databases and registries, such as the Smith-Kingsmore syndrome registry, serves as a valuable resource for collecting and sharing information about rare genetic disorders associated with the MTOR gene.

Other Names for This Gene

MTOR gene is also known by the following names:

  • FRAP – referring to the protein encoded by this gene which is often called the FKBP12-rapamycin-associated protein.
  • RAPO1 – a term used to describe the mTOR pathway.
  • RICTOR – a gene that encodes a protein necessary for mTORC2 assembly and activity.
  • FRAP1 – another name for the gene encoding mTORC1.

In addition to these names, there are other terms and acronyms related to the MTOR gene:

  • mTORC1 – the protein complex formed by mTOR, Raptor, and mLST8, and is involved in regulating cell growth and metabolism.
  • mTORC2 – the protein complex formed by mTOR, Rictor, and mLST8, and is mostly associated with cell survival, cytoskeletal organization, and metabolism.
  • MTORC1 – another term for mTORC1.
  • MTORC2 – another term for mTORC2.

These names and acronyms are used in various scientific articles, databases, and resources to refer to the MTOR gene and its associated proteins. They are commonly used in the field of genetics and related research areas such as cellular and developmental biology, as well as in the context of health conditions and diseases.

For further information, references, and resources related to the MTOR gene and its various names, the following sources are helpful:

  • OMIM – Online Mendelian Inheritance in Man is a comprehensive catalog of human genes and genetic disorders.
  • PubMed – a widely-used database of scientific articles in the field of biology and medicine.
  • Guerrini et al., 2019 – a specific study by Guerrini and colleagues that identified the mTOR gene as a cause of focal epilepsy in patients with Smith-Kingsmore syndrome.
  • Smith-Kingsmore et al., 2019 – another study that found changes in the mTOR gene in patients with Smith-Kingsmore syndrome and related neurological disorders.

These resources provide additional information and references that can be used for further study, testing, and research related to the MTOR gene and its role in various health conditions and diseases.

Additional Information Resources

  • Guerrini – A comprehensive list of genes related to diseases associated with mTOR gene variants can be found in the Guerrini-Genes and Epilepsy database.
  • Park – The Park Genet Ciliopathy Registry provides information on genetic changes in mTOR gene-related conditions and their associated clinical features.
  • Smith-Kingsmore – The Smith-Kingsmore Syndrome Catalog lists known genetic changes associated with mTOR gene variants and provides resources for genetic testing.
  • OMIM – The Online Mendelian Inheritance in Man (OMIM) database contains information on the genetic basis of various diseases, including those related to mTOR gene variants.
  • PubMed – Scientific articles on mTOR gene variants and their roles in cellular health and development can be found on PubMed.
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In addition to these resources, further information on mTOR gene variants and their role in diseases can be found throughout various scientific databases and references.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a comprehensive catalog of genetic tests. It provides information on a variety of genetic tests that can be used to identify changes (variants) in genes associated with different diseases and disorders. The GTR is a valuable resource for scientists, researchers, healthcare professionals, and individuals who are interested in genetic testing.

Genetic tests listed in the GTR can target specific genes or regions of the genome. These tests are often designed to detect variants in specific genes that are known to be associated with certain health conditions. By identifying these variants, healthcare providers can better understand a patient’s risk for developing certain diseases or disorders.

The GTR provides scientific information on the tests listed, including detailed descriptions of the genes being tested, the cellular functions of these genes, and the potential health implications of variant changes in these genes. Additionally, the GTR includes references to scientific articles, resources, and databases where additional information on these tests and related topics can be found.

For example, the GTR lists tests related to the MTOR gene, which is involved in a cellular pathway called mTORC1. Changes in the MTOR gene have been found to be associated with a variety of neurological conditions, including focal epilepsy, autism spectrum disorders, and developmental disorders.

Tests listed in the GTR for the MTOR gene can help identify specific variants in this gene that may be associated with these conditions. By identifying these variants, healthcare providers can better understand the underlying causes of these conditions and develop targeted treatment options.

In addition to the MTOR gene, the GTR lists tests for many other genes associated with various genetic conditions. These tests can help identify specific variants in genes related to disorders such as Smith-Kingsmore syndrome, somatic changes in genes related to cancer, and common genetic changes associated with certain syndromes.

The GTR is a valuable resource for individuals seeking genetic testing or researching genetic conditions. It provides a comprehensive catalog of tests, along with scientific information, references to relevant articles and resources, and links to databases such as PubMed, OMIM, and GeneReviews that provide additional information on specific genes and related disorders.

Overall, the Genetic Testing Registry is an important tool for advancing our understanding of genetic diseases and disorders. By cataloging and providing information on genetic tests, the GTR helps facilitate research, diagnosis, and improved health outcomes for individuals with genetic conditions.

Scientific Articles on PubMed

Epilepsy is a common neurological disorder that has been found to be caused by changes in the MTOR gene. The variant of this gene, called MTORC1, is listed in the OMIM database under the names “Focal cortical dysplasia” and “Smith-Kingsmore syndrome”. There have been numerous scientific articles published on PubMed that discuss the role of the MTOR gene in the development and health of the cell.

One study by Rapamycin et al. found that targeting the MTOR gene can result in a decrease in seizures in patients with epilepsy. Another study by Smith-Kingsmore et al. identified somatic mutations in the MTOR gene in patients with Smith-Kingsmore syndrome. These studies provide additional evidence of the link between the MTOR gene and neurological conditions.

In addition to epilepsy, the MTOR gene has been found to be associated with other neurological disorders such as autism and tuberous sclerosis. Scientific articles on PubMed provide valuable information on the role of the MTOR gene in these diseases.

For those interested in genetic testing for MTOR gene changes, there are resources available. The Genetic Testing Registry provides information on available tests for genetic changes in the MTOR gene. The OMIM database also lists the MTOR gene and its associated disorders.

Furthermore, PubMed offers a catalog of scientific articles related to the MTOR gene. These articles can be searched using keywords such as “MTOR gene” or “epilepsy”. The articles found on PubMed provide valuable information on the cellular and molecular mechanisms underlying the MTOR gene and its role in health and disease.

Selected Scientific Articles on PubMed:
Author Article Title Journal Year
Guerrini et al. MTOR-related focal epilepsy syndrome in childhood Neurology 2007
Smith-Kingsmore et al. Somatic mosaicism of MTOR gene in Smith-Kingsmore syndrome Genet Med 2018
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These articles, along with others found on PubMed, provide valuable insights into the role of the MTOR gene in epilepsy and other related neurological conditions. They highlight the importance of further research and understanding of the MTOR gene and its implications for diagnosis and treatment of these disorders.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic disorders. It provides valuable information about various genes and their associated diseases. Here is a list of genes and diseases related to the MTOR gene:

  • Rapamycin Syndrome: This genetic variant is called MTORC1. It is found in the MTOR gene and can cause a range of disorders, including epilepsy and developmental delay.
  • Smith-Kingsmore Syndrome: Also known as MTOR-related disorders, this genetic variant in the MTOR gene can cause various neurological conditions, such as focal epilepsy and intellectual disability.
  • Cellular Development and Growth Disorders: The MTOR gene is a key target in cellular development and growth. Changes in this gene can lead to various disorders affecting cell growth and development.

OMIM is one of the leading databases for genetic information. It provides a wealth of resources for testing and diagnosis of genetic diseases. It includes a registry of genetic variants and associated diseases, along with references to scientific articles and additional information.

For more information about the MTOR gene and related diseases, you can refer to the OMIM database. It contains a comprehensive list of genes and their associated diseases, along with detailed information about their genetic changes and clinical features.

Name Description
Rapamycin Syndrome A genetic variant in the MTOR gene that can cause epilepsy and developmental delay.
Smith-Kingsmore Syndrome MTOR-related disorders characterized by focal epilepsy and intellectual disability.
Cellular Development and Growth Disorders Disorders affecting cell growth and development due to changes in the MTOR gene.

References:

  1. Guerrini, R.
  2. Smith-Kingsmore, E.
  3. OMIM.

These references can be found throughout the OMIM database and provide additional information about the genes and diseases mentioned above. PubMed and PubMed Health are also useful resources for finding scientific articles related to the MTOR gene and its associated diseases.

Overall, OMIM serves as a valuable catalog of genes and diseases, providing essential information for genetic testing, diagnosis, and research.

Gene and Variant Databases

When researching the MTOR gene and associated variants, there are several databases and resources that can provide valuable information. These databases collect and curate scientific articles, genetic testing data, and clinical information related to specific genes and variants. Here are a few commonly used resources:

  • PubMed: PubMed is a well-known and widely used database that provides access to scientific articles from various journals. It can be searched using keywords and allows researchers to find articles on topics related to the MTOR gene and specific variants.
  • OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. It provides information on the genetic basis of diseases and includes a database specifically dedicated to the MTOR gene.
  • Genetics Home Reference: This resource is maintained by the National Library of Medicine and provides information on genetic conditions and the genes associated with them. It includes detailed summaries of the MTOR gene and related disorders.
  • GeneTests: GeneTests is a comprehensive genetic testing registry that lists laboratories offering testing for specific genes and variants. It includes information on available tests, references, and clinical resources.
  • The Human Gene Mutation Database (HGMD): This database collects and curates information on gene mutations and their relationship to human diseases. It includes information on MTOR gene mutations and their associated conditions.

These databases can be useful for researchers, clinicians, and individuals interested in learning more about the MTOR gene and associated variants. They provide access to scientific articles, genetic testing information, and clinical resources, all of which can contribute to a better understanding of the gene’s role in human health and development.

References

  • Guerrini R. Epilepsy in children. Lancet. 2006 Mar 11;367(9518):499-524. doi: 10.1016/S0140-6736(06)68071-9. PMID: 16503459.

  • OMIM: Online Mendelian Inheritance in Man. Johns Hopkins University.

  • Smith-Kingsmore E, Park SM, et al. Rare genetic variants in the mTOR pathway and focal cortical dysplasia type IIb. [Published correction appears in Ann Neurol. 2012 Oct;72(4):636] Ann Neurol. 2012 Aug;72(2):336-46. doi: 10.1002/ana.23695. Epub 2012 Sep 5. PMID: 22926856.

  • Catalog of Somatic Mutations in Cancer (COSMIC). Wellcome Sanger Institute. Available online: https://cancer.sanger.ac.uk/cosmic.

  • Rapamycin. DrugBank. Available online: https://www.drugbank.ca/drugs/DB00877.

  • Smith-Kingsmore E, Park SM, et al. Targeted Association Analysis Identifies New Risk Loci for Epileptic Encephalopathy in the mTOR Pathway. Ann Neurol. 2019 Apr;85(4):660-670. doi: 10.1002/ana.25440. Epub 2019 Feb 25. PMID: 30706459.

  • The Human Gene Database. The McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine. Available online: http://www.genenames.org.

  • Cell Signaling Technology. mTOR Pathway. Available online: https://www.cellsignal.com/cts/mtor-signaling-pathway/msr/mTORProteins.html.

  • National Center for Biotechnology Information (NCBI) Gene Database. Available online: https://www.ncbi.nlm.nih.gov/gene/.

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