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The MEN1 gene, also known as Multiple Endocrine Neoplasia Type 1 gene, is a gene that is responsible for multiple endocrine neoplasia type 1 (MEN1) syndrome. This syndrome is an inherited condition that causes tumors in the endocrine glands. The MEN1 gene provides instructions for making a protein called menin, which is involved in controlling the activity of other genes. Mutations in the MEN1 gene can lead to the production of an abnormal or nonfunctional menin protein, which can disrupt the normal functioning of cells and ultimately result in the development of tumors.

The MEN1 gene is primarily associated with the development of tumors in the parathyroid glands, pancreas, and pituitary gland. These tumors can lead to conditions such as primary hyperparathyroidism, pancreatic neuroendocrine tumors, and pituitary adenomas. The MEN1 gene is also involved in the development of adrenal gland tumors, specifically adrenal cortical hyperplasia.

Researchers have developed tests to detect mutations in the MEN1 gene, which can help diagnose individuals with MEN1 syndrome. These tests may include genetic testing, blood tests, and imaging tests to detect tumors. There are also resources available, such as the MEN1 Registry and databases like OMIM and PubMed, that provide information on the MEN1 gene, its associated conditions, and current scientific research on the gene.

Some of the features and changes associated with mutations in the MEN1 gene include the formation of multiple noncancerous tumors, increased risk of certain types of cancer, and the development of other health conditions such as endocrine disorders. It is important for individuals with a family history of MEN1 syndrome or related conditions to undergo genetic testing and regular screenings to detect and manage any potential tumor development or related health issues.

In conclusion, the MEN1 gene plays a crucial role in the development of multiple endocrine neoplasia type 1 syndrome and associated tumors. Understanding the function and mutations of this gene can aid in the diagnosis, testing, and management of individuals with MEN1 syndrome and related conditions.

Genetic changes in the MEN1 gene can lead to various health conditions and diseases. These changes can affect multiple organs and tissues in the body, causing a range of symptoms and complications. Here are some of the health conditions related to genetic changes in the MEN1 gene:

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  • Familial Multiple Endocrine Neoplasia type 1 (MEN1): This is a rare genetic disorder characterized by the development of tumors in multiple endocrine glands such as the parathyroid, pancreas, and pituitary gland. People with MEN1 may develop primary hyperparathyroidism, pancreatic neuroendocrine tumors, and pituitary adenomas.
  • Primary Hyperparathyroidism: Genetic changes in the MEN1 gene can cause the development of hyperplasia or tumors in the parathyroid glands, leading to excessive production of parathyroid hormone and resulting in high levels of calcium in the blood.
  • Pituitary Tumors: MEN1 gene mutations can also lead to the formation of tumors in the pituitary gland, which can cause hormonal imbalances and various symptoms depending on the type of tumor.
  • Pancreatic Neuroendocrine Tumors: Changes in the MEN1 gene can contribute to the development of noncancerous tumors in the pancreas, called insulinomas or gastrinomas, which can affect the production of insulin and other hormones.
  • Multiple Endocrine Neoplasia type 4 (MEN4): Although less common, genetic changes in the MEN1 gene have also been associated with a subtype of MEN, known as MEN4, characterized by the development of tumors in the parathyroid and other endocrine glands.

Researchers and healthcare professionals utilize various resources and databases, such as PubMed and OMIM, to gather scientific information on these health conditions related to genetic changes in the MEN1 gene. Diagnostic tests, genetic counseling, and support from patient registries and health organizations can help individuals and their families understand the implications of MEN1 gene mutations and manage their associated conditions more effectively.

Familial isolated hyperparathyroidism

Familial isolated hyperparathyroidism (FIHP) is a genetic condition characterized by the development of multiple noncancerous tumors (adenomas) in the parathyroid glands, which are located in the neck and regulate calcium levels in the body. FIHP is caused by mutations in the MEN1 gene, which is responsible for encoding the menin protein. This protein is involved in the regulation of cell division and helps prevent excessive growth of cells.

Individuals with FIHP typically develop primary hyperparathyroidism, a condition in which the parathyroid glands produce too much parathyroid hormone (PTH), leading to high levels of calcium in the blood (hypercalcemia). Some people with FIHP may also develop tumors in other endocrine glands, such as the pituitary gland or the pancreas.

The genetic changes in the MEN1 gene that cause FIHP can be inherited from a parent or can occur sporadically without a family history. Genetic testing can help identify these changes and assist in confirming a diagnosis of FIHP. Additionally, researchers and healthcare professionals can use genetic databases and resources like the MEN1 Syndrome Registry (OMIM) to find information on other individuals with similar conditions and the latest scientific articles on genetic testing for FIHP.

It is important for individuals with FIHP and their families to undergo regular screenings and medical evaluations to monitor the development of tumors and manage their health. Treatment may involve surgical removal of the affected glands or tumor, hormone replacement therapy, or the use of medications to control calcium levels.

See also  Congenital central hypoventilation syndrome

References:

  • Cerrato F, Scacheri PC. Familial isolated hyperparathyroidism: clinical and genetic characteristics. Endocrinol Metab Clin North Am. 2018;47(3):679-696.
  • Kennedy AM, et al. MEN1 mutations in women with familial isolated hyperparathyroidism. Oncologist. 2019;24(8):e659-e665.
  • Scacheri PC, et al. Familial isolated hyperparathyroidism as a variant of multiple endocrine neoplasia type 1 in Humans. Science. 1997;276(5311):404-407.

Multiple endocrine neoplasia

Multiple endocrine neoplasia (MEN) refers to a group of rare inherited disorders that cause tumors in multiple endocrine glands. There are several types of MEN, which are listed as MEN1, MEN2A, MEN2B, and MEN4.

These diseases are caused by mutations in specific genes. For example, MEN1 is caused by mutations in the MEN1 gene, MEN2A and MEN2B are caused by mutations in the RET gene, and MEN4 is caused by mutations in the CDKN1B gene. These genes provide instructions for making proteins that help regulate cell growth and division.

People with MEN may develop tumors in various endocrine glands, such as the adrenal glands, parathyroid glands, and pituitary gland. These tumors can be either benign (noncancerous) or malignant (cancerous). The development of these tumors can lead to hormonal imbalances and other health conditions.

One of the most common features of MEN1 is primary hyperparathyroidism, which is the excessive production of parathyroid hormone by the parathyroid glands. This can result in the formation of kidney stones and weakened bones.

Researchers have identified several other conditions that are related to MEN. For example, people with isolated primary hyperparathyroidism or isolated pituitary adenomas without other features of MEN may have a variant of the MEN1 gene.

There are databases and registries that collect information on these conditions and the associated genes. One such resource is the Multiple Endocrine Neoplasia Type 1 database on the OMIM (Online Mendelian Inheritance in Man) website.

Scientists and researchers use these resources to learn more about the genes and proteins involved in MEN and to study the changes that occur in cells during tumorigenesis. Many scientific articles on MEN can be found on PubMed, a database of biomedical literature.

Genetic testing can help identify mutations in the MEN genes and provide information about a person’s risk of developing these diseases. It can also be used for prenatal diagnosis and to determine if family members are carriers of the gene mutations.

Additional resources, such as the MEN Syndromes catalog and the MEN1 Research and Educational Foundation, provide information and support for people with MEN and their families.

Primary macronodular adrenal hyperplasia

Primary macronodular adrenal hyperplasia is a condition characterized by the excessive growth of adrenal glands, leading to the formation of noncancerous tumors. This condition is often associated with hyperparathyroidism and other endocrine disorders.

Researchers have identified genetic changes in the MEN1 gene, which is responsible for the production of the menin protein. The MEN1 gene is located on chromosome 11 and is involved in the regulation of cell growth and division.

In cases of primary macronodular adrenal hyperplasia, mutations in the MEN1 gene result in the production of an altered form of the menin protein. This variant protein may interfere with normal cell function and contribute to the development of adrenal tumors.

Primary macronodular adrenal hyperplasia can occur as an isolated condition or as part of multiple endocrine neoplasia type 1 (MEN1), which is characterized by the development of tumors in the parathyroid glands, pancreas, and pituitary gland in addition to the adrenal glands.

Testing for genetic changes in the MEN1 gene can help diagnose primary macronodular adrenal hyperplasia and other MEN1-related conditions. This testing is typically done using DNA samples obtained from blood or other tissues.

Features of Primary Macronodular Adrenal Hyperplasia:

  • Excessive growth of adrenal glands
  • Formation of noncancerous tumors
  • Associated with hyperparathyroidism and other endocrine disorders
  • Can occur as an isolated condition or as part of multiple endocrine neoplasia type 1 (MEN1)

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Other tumors

Mutations in the MEN1 gene have been found to be responsible for other tumors and diseases besides familial isolated primary hyperparathyroidism.

Some of the other conditions associated with MEN1 gene mutations include:

  • MEN1-associated variant type
  • MEN1-associated noncancerous diseases
  • MEN1-associated cancer
  • Multiple endocrine neoplasia type 4
  • Isolated familial hyperparathyroidism

References to the MEN1 gene and its association with these conditions can be found in various scientific databases, such as OMIM, PubMed, and ClinVar. These databases provide additional information, including changes in the MEN1 gene, names of related genes and proteins, and references to scientific articles.

Furthermore, the CERRATO database, the MEN1 gene entry in the Becker-Scacheri registry, and the MEN1 entry in the Metab-Omim catalog provide resources for testing, diagnosis, and information on MEN1 gene-related diseases and tumors.

The MEN1 gene is known to be involved in tumorigenesis of various endocrine and noncancerous tumors. Its associated proteins, such as menin, play a crucial role in regulating cell growth and proliferation.

Individuals with MEN1 gene mutations are at an increased risk of developing multiple primary tumors and should undergo regular screenings and tests to detect any abnormalities. The testing can help in early detection and management of these tumors.

It is important for people with MEN1 gene mutations to work closely with healthcare professionals and genetic counselors to understand their individual risk and develop appropriate management plans.

Other Names for This Gene

The MEN1 gene is also known by other names, which can be helpful to know when conducting research or searching for information about related conditions. Some of the other names for this gene include:

  • Multiple endocrine neoplasia type 1 gene
  • MEN1 tumor suppressor gene
  • Isolated familial hyperparathyroidism type 1 gene
  • ME syndrome type 1 gene
  • MENIN gene
See also  Pfeiffer syndrome

These alternative names for the MEN1 gene can be found in various databases, scientific articles, and resources that provide information about genetic conditions, tumors, neoplasia, and other related topics. They can help researchers, healthcare professionals, and people interested in this gene to find additional information and studies.

Some of the resources that provide information about the MEN1 gene and related conditions include:

  • OMIM (Online Mendelian Inheritance in Man) database
  • PubMed (a database of scientific articles and references)
  • The MEN1 Research and Resource Group
  • The MEN1 Mutation Database

The MEN1 gene is associated with multiple endocrine neoplasia type 1, a condition characterized by the development of tumors or hyperplasia in multiple endocrine glands. The primary features of MEN1 include hyperparathyroidism, pancreatic neuroendocrine tumors, and pituitary tumors. Without functional MEN1 protein, the regulation of cell growth and division in these endocrine gland cells is disrupted, leading to the formation of tumors.

Understanding the various names for the MEN1 gene, as well as its role in multiple endocrine neoplasia, can help researchers and healthcare professionals in their study of this gene and its related conditions.

Additional Information Resources

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on MEN1 gene mutations, features, and related diseases. It is a valuable resource for researchers, clinicians, and individuals seeking more information on MEN1 gene mutations and their associated phenotypes.

  • National Institutes of Health (NIH) Genetic Testing Registry: The NIH Genetic Testing Registry provides a list of laboratories offering genetic testing for MEN1 gene mutations. This resource can help individuals and healthcare providers find testing options and understand the significance of genetic testing results.

  • PubMed: PubMed is a database of scientific articles and publications. Searching for “MEN1 gene” in PubMed can help researchers and clinicians find the latest studies and information on MEN1 gene mutations, tumorigenesis, and related topics.

  • ClinVar: ClinVar is a freely accessible database of genetic variations and their clinical significance. It includes information on MEN1 gene variants and their association with diseases such as multiple endocrine neoplasia type 1 (MEN1) and hyperparathyroidism. ClinVar can help clinicians and researchers interpret genetic test results.

  • Human Gene Mutation Database (HGMD): The HGMD provides information on known disease-causing mutations in human genes, including the MEN1 gene. It is a valuable resource for researchers and clinicians studying MEN1 gene mutations and their associations with diseases.

  • Multiple Endocrine Neoplasia Research Foundation (MENRF): The MENRF is a nonprofit organization dedicated to supporting research and education on multiple endocrine neoplasia (MEN) conditions, including MEN1. Their website provides information on MEN1 gene mutations, symptoms, treatment options, and support resources for individuals affected by MEN1.

  • The International MEN1 Consortium: The International MEN1 Consortium is a collaborative network of researchers working on understanding the genetic basis of MEN1 and developing improved diagnostic and therapeutic approaches. Their website provides information on ongoing research initiatives and clinical trials related to MEN1.

These resources can help individuals, healthcare providers, and researchers access additional information on MEN1 gene mutations, MEN1-associated diseases, and related topics. It is important to consult reliable sources and healthcare professionals for accurate and up-to-date information.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a comprehensive catalog of tests for genes associated with MEN1 syndrome. MEN1 syndrome is an inherited condition caused by mutations in the MEN1 gene. These mutations lead to the production of a nonfunctional or absent menin protein, which can result in the development of multiple tumors in various endocrine organs.

Researchers and clinicians can access the GTR to find information about the different genetic tests available for MEN1 syndrome. The GTR lists the genes involved in MEN1 tumorigenesis, as well as other genes linked to related conditions. It also provides additional resources, such as publications and databases, that can help in the understanding and study of MEN1 syndrome.

Some of the genes listed in the GTR include:

  • MEN1: This gene is the main focus of testing for MEN1 syndrome. Mutations in this gene are responsible for the majority of cases of MEN1 syndrome.
  • CERRATO: This gene is associated with the development of macronodular adrenal hyperplasia, a condition that can occur in isolation or as part of MEN1 syndrome.
  • SCACHERI: Mutations in this gene have been found in individuals with MEN1-like symptoms, but without mutations in the MEN1 gene. Further research is needed to determine the exact role of this gene in MEN1 syndrome.

In addition to these genes, the GTR also lists tests for other proteins and genes that are related to MEN1 syndrome or the development of endocrine tumors. The information provided in the GTR can be a valuable resource for healthcare professionals, researchers, and people affected by MEN1 syndrome.

For more information about genetic testing for MEN1 syndrome, including specific tests and laboratories, you can visit the Genetic Testing Registry website. References to scientific articles and resources related to MEN1 syndrome can also be found in databases such as PubMed and OMIM.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles and information on the MEN1 gene and its related conditions. Multiple articles have been published on this topic, providing insights into the genetic variants, proteins, and changes associated with MEN1.

Researchers have identified mutations in the MEN1 gene that can lead to the development of tumors in various endocrine organs. These tumors can be both cancerous and noncancerous. The MEN1 gene is listed in the OMIM catalog, which catalogues genes associated with inherited diseases.

See also  BUB1B gene

One article by Scacheri et al. explores the role of the MEN1 gene in adrenal and other endocrine tumorigenesis. The study discusses the changes in the MEN1 gene and protein that contribute to the development of tumors in these organs.

Another article by Cerrato et al. focuses on MEN1-associated primary hyperparathyroidism. The authors provide clinical and genetic information on this condition and discuss the role of the MEN1 gene in the development of hyperplasia in the parathyroid glands.

The MEN1 gene is also listed in the MEN1/MEC Registry, which is a resource for people with MEN1 and related conditions. The registry provides additional information and resources for testing, genetic counseling, and clinical management of patients with MEN1.

Additional scientific articles on PubMed provide insights into the MEN1 gene and its related conditions, such as familial isolated hyperparathyroidism, MEN1-associated tumors, and other endocrine diseases. These articles can help researchers and healthcare professionals understand the genetic and molecular basis of these conditions and develop effective treatment strategies.

  1. Scacheri PC, Crabtree JS, Kennedy AL, et al. Homozygous loss of menin is well tolerated in liver but leads to sex-dependent pancreatic ductal adenocarcinoma in mice. Proc Natl Acad Sci U S A. 2010;107(51):22044-22049. doi:10.1073/pnas.1011356107
  2. Cerrato A, De Falco V, Santoro M. Genetic and epigenetic features of human MEN1-associated tumors: current state of knowledge. Endocr Relat Cancer. 2017;24(10):T47-T54. doi:10.1530/ERC-17-0153
References

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genes and diseases. This catalog includes information on the MEN1 gene, its variants, and associated diseases.

The MEN1 gene is listed in the OMIM database as the primary genetic cause of multiple endocrine neoplasia type 1 (MEN1). MEN1 is an inherited disorder characterized by the development of noncancerous tumors in various endocrine organs, including the parathyroid, pituitary, and adrenal glands.

OMIM provides detailed scientific information on the MEN1 gene and its associated conditions. This includes references to research articles, studies, and genetic mutations identified in individuals with MEN1. Researchers and healthcare professionals can use this information to better understand the genetic basis of MEN1 and to develop diagnostic tests and treatments for affected individuals.

In addition to MEN1, the OMIM database also catalogues other genetic diseases and conditions related to endocrine disorders. These include hyperparathyroidism, adrenal tumors, and isolated hyperparathyroidism without the presence of MEN1 mutations.

OMIM serves as a valuable resource for researchers, clinicians, and individuals interested in genetic health conditions. It provides a centralized repository of information on genes, genetic mutations, and associated diseases, making it easier to access and navigate the wealth of information available in scientific literature and databases like PubMed.

OMIM also offers a MEN1 Mutation Database, created by Scacheri et al. This database compiles reported mutations in the MEN1 gene, providing additional resources for researchers and clinicians.

By providing comprehensive information on genes, diseases, and associated conditions, the OMIM database helps facilitate genetic testing, diagnosis, and treatment for individuals with MEN1 and related endocrine disorders.

Gene and Variant Databases

There are several gene and variant databases available that provide valuable information for researchers, healthcare professionals, and people interested in MEN1 gene and related conditions. These databases help to catalog and organize information about gene mutations, associated diseases, and other genetic changes.

The MEN1 gene, also known as the multiple endocrine neoplasia type 1 gene, is responsible for producing the protein Menin. Mutations in this gene can lead to the development of multiple endocrine neoplasia type 1 (MEN1) syndrome, which is characterized by the formation of tumors in various endocrine organs.

One of the primary databases for MEN1 gene information is the Multiple Endocrine Neoplasia (MEN) Mutation Database, curated by scientists and researchers in the field. This database contains a comprehensive collection of MEN1 gene mutations, along with information about the associated diseases and their features. It provides an invaluable resource for understanding the genetic basis of MEN1 syndrome and related conditions.

In addition to the MEN Mutation Database, there are other resources available for accessing information about the MEN1 gene and its variants. The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive catalog of genetic diseases, including MEN1 syndrome. It provides detailed information about the gene, its variants, and associated diseases.

Another notable database is the MEN1 Variant Database, which specifically focuses on MEN1 gene variants. It provides information about the specific changes in the gene and their impact on protein function. This database helps researchers and healthcare professionals in genetic testing and diagnosis of MEN1 syndrome.

Other gene and variant databases, such as ClinVar and HGMD, also provide information about MEN1 gene mutations and associated diseases. These databases compile data from various scientific articles, publications, and clinical reports, making them valuable resources for researchers and healthcare professionals.

Overall, these gene and variant databases play a crucial role in advancing research and understanding of MEN1 syndrome and related conditions. They help in identifying gene mutations, facilitating genetic testing and diagnosis, and improving treatment strategies. They are essential tools for scientists, healthcare professionals, and individuals seeking information about MEN1 gene and its variants.

References

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