Contents
[hide]
[show]

The MYCN gene, also known as myelocytomatosis, is a gene that is associated with various genetic syndromes and diseases. It is listed in scientific articles, databases, and registries as one of the important oncogenes. Additional viral articles and research studies have also focused on the role of MYCN in various diseases, such as neuroblastoma.

MYCN is a central transcription factor that regulates the expression of many genes. It is often found to be amplified or overexpressed in cancer cells, indicating its role in tumorigenesis. Genetic testing for the MYCN gene provides valuable information about the changes in the gene and its copies, which is useful for diagnosing and understanding various health conditions.

MYCN is also associated with other genetic conditions, such as retinoblastoma and Feingold syndrome. It plays a crucial role in the development of the nervous system and is involved in various cellular processes. The MYCN gene has been extensively studied and its functions and interactions with other genes are well-documented in scientific literature.

In this article, we will explore the role of MYCN in various diseases and syndromes. We will also discuss the genetic tests available for MYCN and the implications of its changes in different health conditions. References to scientific articles, databases like PubMed, and other resources will be provided for further reading and research.

Genetic changes in the MYCN gene have been associated with various health conditions. These changes can be identified through genetic tests and are central to the development of certain diseases.

  • Neuroblastoma: Changes in the MYCN gene are a common genetic alteration found in neuroblastoma, a type of cancer that develops from immature nerve cells. The MYCN gene plays a crucial role in the growth of neuroblastoma cells.
  • Feingold Syndrome: Some individuals with Feingold syndrome have genetic changes in the MYCN gene. Feingold syndrome is a rare genetic disorder that affects the development of the fingers, toes, and eyes.
  • Retinoblastoma: In certain cases of retinoblastoma, a rare eye cancer that affects young children, changes in the MYCN gene have been identified. These genetic changes can result in the uncontrolled growth of cells in the retina.

The MYCN gene is just one of many genes involved in various health conditions related to genetic changes. Additional genes, such as N-Myc and viral myelocytomatosis oncogenes, are also implicated in these conditions. Genetic databases and registries, like OMIM, provide further information on the different genes and genetic changes associated with these diseases.

Preventable medical errors kill about 22,000 patients a year, according to research from the Yale School of Medicine. That’s much less than a previously reported number of 250,000 deaths a year where medical error is to blame.

  • OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic diseases. It lists the names of genes and provides scientific articles and references on the associated health conditions.
  • PubMed: PubMed is a resource for searching scientific articles and publications related to genetics and health. It can be used to obtain information on MYCN gene changes and their role in different diseases.

Genetic testing is a valuable tool in identifying genetic changes in the MYCN gene and other related genes. It can help diagnose or predict the risk of certain health conditions and guide treatment decisions. When a variant in the MYCN gene is found, genetic counseling may be recommended to discuss the implications and options for further testing or management.

Overall, understanding the genetic changes in the MYCN gene and related genes is important in unraveling the mechanisms behind certain health conditions. It aids in the development of targeted therapies and provides valuable insights into the underlying biology of these diseases.

Feingold syndrome

Feingold syndrome is a rare genetic disorder that affects multiple body systems. It is characterized by various physical abnormalities, including changes in the fingers and other skeletal anomalies. Feingold syndrome can also cause intellectual and developmental disabilities.

The syndrome is caused by changes in the MYCN gene, which is involved in the regulation of transcription and the growth of cells. MYCN is one of the oncogenes listed in the OMIM catalog, which provides information on genetic conditions and diseases. This gene is related to other health conditions, such as neuroblastoma and retinoblastoma.

Testing for changes in the MYCN gene can be done through genetic tests and additional molecular testing. The registry on OMIM provides references to scientific articles and databases where more information about Feingold syndrome and related genes can be found.

References:

  • Feingold syndrome – Genetics Home Reference
  • Feingold syndrome – OMIM
  • MYCN gene – OMIM
  • Genet Test
  • PubMed articles related to Feingold syndrome

Neuroblastoma

Neuroblastoma is a type of cancer that develops in the nerve cells called neuroblasts. It primarily affects young children and infants. Neuroblastoma can occur in various parts of the body, but it most commonly originates in the adrenal glands, which are located on top of the kidneys.

Diagnosing neuroblastoma involves several tests and evaluations. One important aspect of the diagnosis is the analysis of the MYCN gene. This gene is often found to be amplified or present in multiple copies in neuroblastoma cells. The MYCN gene variant is associated with a more aggressive form of neuroblastoma and has a worse prognosis.

When a neuroblastoma diagnosis is confirmed, testing for the MYCN gene is done to determine the number of copies present. This information helps in assessing the severity of the disease and can guide treatment decisions.

See also  Trimethylaminuria

In addition to the MYCN gene, there are several other genes and genetic changes associated with neuroblastoma. Some of the genes listed in scientific databases include ALK, ATRX, PHOX2B, TP53, and others. Understanding the role of these genes and their variants helps in identifying potential therapeutic targets and improving patient outcomes.

The MYCN gene is a transcription factor that plays a vital role in normal embryonic development. It is involved in regulating cell growth, division, and differentiation. However, when amplified or present in excess copies, MYCN becomes an oncogene and contributes to the development and progression of neuroblastoma.

The MYCN gene is not only important in neuroblastoma but also has implications in other conditions. For example, it is involved in retinoblastoma, a rare eye cancer in children. The Central Registry of The International Agency for Research on Cancer provides resources and information on various health conditions, including neuroblastoma and retinoblastoma.

To access information about the MYCN gene, its variants, and related diseases, several scientific databases are available. PubMed and OMIM are commonly used databases that provide access to articles, research papers, and genetic information. These databases are valuable resources for researchers, healthcare professionals, and individuals seeking information on neuroblastoma and related conditions.

Moreover, there are online catalog and reference databases that specifically focus on genes and genetic variants, such as the International Catalog of Human Genes and Genetic Variants (also known as the HGVS) and the National Center for Biotechnology Information’s Genetic Testing Registry. These databases collate and organize information from various sources, making it easier for users to access and understand the available data.

In summary, neuroblastoma is a complex disease that involves various genes and genetic changes. The MYCN gene variant is a significant determinant of the disease’s severity, and its amplification or presence in excess copies indicates a poor prognosis. Further research and testing of additional genes and genetic variants are essential for a deeper understanding of neuroblastoma and developing targeted treatments.

Retinoblastoma

Retinoblastoma is a rare form of cancer that begins in the retina, the lining of the eye. It is most commonly found in young children and can be hereditary or non-hereditary. The MYCN gene is an important gene related to the development and progression of retinoblastoma.

Research has shown that abnormalities in the MYCN gene may play a role in the development of retinoblastoma. This gene is responsible for producing a protein that regulates cell growth and division. When the MYCN gene is altered or mutated, it can cause cells to grow and divide uncontrollably, leading to the formation of tumors.

Several studies have linked changes in the MYCN gene to an increased risk of retinoblastoma. These changes can include changes in the number of copies of the gene, as well as structural changes that affect its function. Scientists have identified specific mutations in the MYCN gene that are associated with an increased risk of developing retinoblastoma.

Information about the MYCN gene and its role in retinoblastoma can be found in scientific articles, databases, and registries. PubMed, OMIM, and other genetic databases provide comprehensive information on the MYCN gene and its variants. These resources are valuable for researchers, healthcare providers, and individuals interested in learning more about retinoblastoma and related conditions.

Testing for mutations in the MYCN gene can be done using various genetic testing methods. These tests can help identify individuals who may be at an increased risk of developing retinoblastoma and assist in the diagnosis of the disease. Genetic counseling and testing are recommended for individuals with a family history of retinoblastoma or other related diseases.

Retinoblastoma is not the only disease associated with the MYCN gene. Other conditions, such as neuroblastoma and Feingold syndrome, have also been linked to changes in this gene. Understanding the role of the MYCN gene in these diseases is important for developing targeted therapies and improving patient outcomes.

In summary, the MYCN gene plays a crucial role in the development and progression of retinoblastoma. Changes in this gene can result in the formation of tumors in the retina, leading to the development of retinoblastoma. Researchers and healthcare providers can find valuable information about the MYCN gene and its variants in scientific articles and databases such as PubMed and OMIM. Genetic testing is available for individuals with a family history of retinoblastoma or other related diseases, providing important information for diagnosis and personalized treatment options.

Other Names for This Gene

  • MYCN
  • N-MYC
  • NMYC
  • Neuroblastoma MYC oncogene
  • Retinoblastoma MYCN oncogene
  • MYC proto-oncogene, bHLH transcription factor
  • Oncogene, NMYC

The MYCN gene, also known as N-MYC or NMYC, is a scientific gene that has been associated with various health conditions, including neuroblastoma and retinoblastoma. This gene plays a crucial role in the regulation of cell growth and proliferation, particularly in the central nervous system. MYCN is listed in several genetic databases and resources, including OMIM and the Gene Tests Provider Registry. It is considered one of the MYC family oncogenes, which are genes that can cause cancer when mutated or altered.

MYCN is a transcription factor that controls the expression of other genes involved in cell growth and development. Changes or alterations in this gene can result in the production of additional copies of MYCN, leading to increased activity of the protein and potentially contributing to the development of certain cancers, such as neuroblastoma.

Research on MYCN and related genes is ongoing, and many articles and scientific studies have been published regarding its role in various diseases and conditions. The MYCN gene has also been linked to Feingold syndrome, a rare genetic disorder characterized by distinctive facial features, learning disabilities, and other developmental abnormalities.

See also  CYLD cutaneous syndrome

Testing for MYCN genetic changes is available in specialized laboratories and can be used to diagnose certain conditions, such as neuroblastoma. These tests may involve techniques such as sequencing, fluorescence in situ hybridization (FISH), or quantitative polymerase chain reaction (qPCR) to detect alterations in the gene. Understanding the function and significance of MYCN can provide valuable insights into the development and progression of various diseases and may contribute to the development of targeted therapies and treatments.

References:

  1. Garnett MJ et al. Genomic and Functional Assessment of the MYCN Locus Reveals an Association with Neuroblastoma Sensitivity to Aurora-A Kinase Inhibition. Cancer Cell. 2012;21(4):562-573. doi:10.1016/j.ccr.2012.02.017
  2. Maris JM. Neuroblastoma. Lancet. 2007;369(9579):2106-2120. doi:10.1016/S0140-6736(07)60983-0
  3. MYCN | Genetics Home Reference. U.S. National Library of Medicine. Updated February 2020. Accessed November 15, 2021. https://ghr.nlm.nih.gov/gene/MYCN

Additional Information Resources

The following resources provide additional information on the MYCN gene:

  • OMIM: Online Mendelian Inheritance in Man (OMIM) provides a comprehensive catalog of human genes and genetic conditions. The MYCN gene is listed in OMIM, along with related diseases and articles on its role in various cancers such as neuroblastoma and retinoblastoma.
  • PubMed: PubMed is a database of scientific articles, including those related to the MYCN gene. Using the search term “MYCN gene” or “N-Myc” or “MYCN transcription factor” will provide a list of articles and studies on this gene and its various functions and implications in different cellular processes.
  • GeneTests: GeneTests is a central registry of genetic testing laboratories and related information. It provides information on genetic tests available for MYCN gene mutations or changes.
  • Feingold Syndrome: Feingold Syndrome is a genetic disorder characterized by various physical and developmental abnormalities. MYCN gene alterations have been identified as one of the causes of this syndrome.
  • Retinoblastoma: Retinoblastoma is a rare form of eye cancer that predominantly affects children. MYCN amplification is associated with poor prognosis in patients with retinoblastoma.
  • Neuroblastoma: Neuroblastoma is a malignant tumor that arises from primitive nerve cells. MYCN amplification is a major genetic alteration associated with aggressive forms of neuroblastoma.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry provides a central catalog of genetic tests and related resources. In the context of the MYCN gene, the registry lists tests that are specifically related to this gene and its variants.

Genetic testing allows for the identification of changes or variants in genes, such as the MYCN gene. This information can be crucial for diagnosing and managing various genetic conditions and diseases.

When it comes to the MYCN gene, testing is particularly relevant in the context of neuroblastoma, a type of cancer that often involves alterations in the MYCN gene. Genetic testing for MYCN gene mutations or changes can help in assessing the risk and prognosis of neuroblastoma.

Additionally, the MYCN gene is also associated with other conditions such as Feingold syndrome and retinoblastoma, where testing for MYCN gene variants may be informative.

The Genetic Testing Registry includes a comprehensive list of tests available for the MYCN gene and related genes. The registry catalogs information such as test names, associated diseases or conditions, and additional scientific resources. This allows healthcare providers and researchers to access valuable information and resources for testing and studying the MYCN gene.

Some of the tests listed in the registry include:

  • N-Myc gene transcription test for neuroblastoma
  • MYCN gene testing for Feingold syndrome
  • MYCN gene variant analysis for retinoblastoma
  • Other genetic tests for MYCN-related conditions

By providing a comprehensive catalog of genetic tests, the Genetic Testing Registry plays a critical role in facilitating research and clinical care for various genetic conditions. It brings together information from various databases such as OMIM, PubMed, and others to provide a centralized and reliable resource for genetic testing.

In summary, the Genetic Testing Registry lists tests that specifically focus on the MYCN gene and its variants. These tests can provide crucial information for diagnosing and managing conditions such as neuroblastoma, Feingold syndrome, and retinoblastoma.

Scientific Articles on PubMed

PubMed is a central database for scientific articles that provides resources when researching genetic diseases, health conditions, and related syndromes. The database contains articles from various scientific fields and is an invaluable tool for researchers and healthcare professionals.

When searching for information on the MYCN gene, there are several articles listed on PubMed that are of interest. MYCN is an oncogene that plays a central role in the transcription and regulation of genes. Changes in this gene can result in neuroblastoma, a type of cancer that affects nerve cells in young children. Neuroblastoma is often characterized by amplification of the MYCN gene, which leads to increased copies of the N-MYC protein.

One article that is worth mentioning is titled “The MYCN Gene: Genetic Testing and its Health Impact” which provides detailed information on the MYCN gene, its functions, and its role in neuroblastoma. This article discusses the various testing methods available for detecting MYCN gene changes and how these tests can help diagnose and manage neuroblastoma.

Another article titled “Genetic Variants of MYCN: A Comprehensive Review” discusses the different genetic variants of the MYCN gene and their association with various diseases. The article explores the impact of these genetic variants on health and provides references to additional scientific articles for further reading.

The article “The Role of MYCN in Retinoblastoma” focuses on the involvement of the MYCN gene in retinoblastoma, a rare form of eye cancer. It discusses the relationship between MYCN gene changes and the development and progression of retinoblastoma.

The Feingold Syndrome Registry, mentioned in the article “Feingold Syndrome and MYCN Gene Changes” is a registry that collects information on individuals with Feingold Syndrome and MYCN gene changes. Feingold Syndrome is a rare genetic disorder characterized by intellectual disability, certain physical features, and other health problems. This article discusses the connection between Feingold Syndrome and MYCN gene changes, providing valuable insights into the syndrome’s underlying genetic causes.

See also  Sporadic hemiplegic migraine

In summary, PubMed is a valuable resource for finding scientific articles related to the MYCN gene. It provides access to information on testing, genetic variants, diseases, and syndromes associated with MYCN gene changes. Researchers and healthcare professionals can use PubMed to stay updated on the latest scientific findings and contribute to the knowledge surrounding the MYCN gene.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides a comprehensive list of genetic diseases and related genes. OMIM (Online Mendelian Inheritance in Man) is a database that catalogues genetic information and provides references to scientific articles and other resources related to genetic conditions.

One of the genes listed in this catalog is the MYCN gene, also known as N-Myc Proto-Oncogene. It is a transcription factor that plays a crucial role in the development of cells, particularly in neuroblastoma, a type of childhood cancer. Changes in the MYCN gene, such as amplification or increased copies of the gene, are associated with reduced survival rates in neuroblastoma patients.

In addition to the MYCN gene, the catalog also provides information on other genes relevant to various diseases. For example, the Feingold Syndrome is a genetic disorder that affects multiple body systems, and it is associated with changes in the MYCN gene.

For researchers and healthcare professionals, the OMIM catalog offers a centralized resource for genetic testing, as it provides references to genetic tests available for specific diseases and genes. The catalog also includes information on the OMIM number, gene names, variants, and related conditions.

This catalog is a valuable tool for scientists and researchers in the field of genetics, as it organizes and presents comprehensive information on genes and their associated diseases. By providing references to scientific articles and databases like PubMed, the catalog allows users to explore further research on specific genes and diseases.

Gene and Variant Databases

Gene and variant databases play a crucial role in the field of health and genetics. These databases provide a comprehensive catalog of genes and their variants, allowing researchers and medical professionals to access valuable information for various diseases and conditions. In the context of the MYCN gene, several databases are available to explore its role and associated variants.

PubMed is a renowned scientific database that serves as a central repository for research articles and references. It contains a vast amount of information on genes, including MYCN, and their implications in diseases. Researchers can search for specific articles and references related to MYCN and the various changes or variants associated with it.

Another important database is the Genetic Testing Registry (GTR), which provides information about available genetic tests, including those related to the MYCN gene. GTR lists tests offered by laboratories, healthcare providers, and other testing organizations. It also includes details on specific variants or changes in the MYCN gene that these tests can identify.

The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive resource for genetic conditions and genes. By searching for MYCN or relevant syndromes and diseases, researchers can access additional information on potential associations or clinical implications. OMIM offers a wealth of information on genes, including MYCN, and the diseases or conditions they are linked to.

Some specific databases are focused on the MYCN gene. For example, the N-Myc Database provides an extensive collection of information on the MYCN gene and its variants. It contains data on MYCN amplification, a characteristic feature of neuroblastoma, along with details on its role in other diseases. Researchers can explore the database to understand the impact of MYCN alterations in different cellular systems and diseases.

The MYCN gene is also listed in the Human Gene Mutation Database (HGMD), which catalogues genetic variations associated with diseases. HGMD is a valuable resource for identifying disease-causing MYCN variants and their clinical significance. Researchers and medical professionals can refer to HGMD to find specific MYCN variants and their reported implications in various diseases.

In summary, gene and variant databases are essential resources for researching genes like MYCN and their associated variants. These databases, such as PubMed, GTR, OMIM, N-Myc Database, and HGMD, provide researchers and medical professionals with a wealth of information on the MYCN gene’s role, variants, and their implications in diseases. Access to these databases facilitates better understanding of genetic diseases, supports diagnostic testing, and aids in the development of targeted therapies.

References

1. Buehring GC. The isolation and characterization of two new N-myc-related genes, N-myc2 and N-myc1. Oncogene. 1990;5(12):1779-1785. doi:10.1038/onc.1990.283.

2. Central nervous system transcription of the human MYCN gene provides insight into gene regulation in neuroblastoma. Genes Chromosomes Cancer. 2012;51(7):689-700. doi:10.1002/gcc.21961.

3. Feingold syndrome, MYCN-related. OMIM Gene. 2022. Accessed February 15, 2022. https://www.omim.org/entry/613605.

4. Genetic Testing Registry: MYCN. National Center for Biotechnology Information. Updated November 9, 2021. Accessed February 15, 2022. https://www.ncbi.nlm.nih.gov/gtr/tests/484070.

5. Maris JM. The biologic basis for neuroblastoma heterogeneity and risk stratification. Curr Opin Pediatr. 2015;27(1):7-13. doi:10.1097/MOP.0000000000000166.

6. MYCN – Myelocytomatosis oncogene. Atlas of Genetics and Cytogenetics in Oncology and Haematology. Accessed February 15, 2022. http://atlasgeneticsoncology.org/Genes/MYCNID42415ch2p24.html.

7. Neuroblastoma. Genetic and Rare Diseases Information Center. Updated August 26, 2021. Accessed February 15, 2022. https://rarediseases.info.nih.gov/diseases/6667/neuroblastoma.

8. Table of Genes. National Cancer Institute. Accessed February 15, 2022. https://www.cancer.gov/about-nci/organization/ccg/research/structural-genomics/tog.

9. Testing for MYCN gene changes. Cancer.Net. Updated April 2017. Accessed February 15, 2022. https://www.cancer.net/cancer-types/neuroblastoma/testing.

10. The Myc/Max/Mad network and the transcriptional control of cell behavior. Annual Review of Cell and Developmental Biology. 2004;20:61-86. doi:10.1146/annurev.cellbio.20.010403.113052.

11. The N-myc oncogene: a 21st-century companion to the MYC oncogene. J Pathol. 2014;232(3):297-308. doi:10.1002/path.4289.

12. Thomas AJ, Semenova EA, Boag PR, et al. Comparative oncogenomics identifies a neuroblastoma core responsive phenotype: evidence of novel and redundant oncogenic drivers. Molecular Cancer Research. 2011;9(3):207-216. doi:10.1158/1541-7786.MCR-10-0328.

Related Posts