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The AR gene, also known as the Androgen Receptor gene, plays a crucial role in various androgenetic conditions. Androgenetic conditions encompass a range of health issues that are influenced by male hormones, or androgens. These conditions can affect both males and females, with symptoms that may include hair loss (alopecia), prostate cancer, polycystic ovary syndrome, and muscular atrophy.

The AR gene provides instructions for making a protein called the androgen receptor. This receptor is responsible for binding to androgens, such as testosterone, and initiating specific genetic changes within cells. Mutations or variations in the AR gene can lead to changes in the androgen receptor, which can in turn affect its ability to bind and respond to androgens correctly.

Testing for mutations in the AR gene is essential for diagnosing and understanding androgenetic conditions. Resources such as the OMIM database and scientific articles provide additional information on the characteristics, variations, and related genes involved in these conditions. Furthermore, the AR gene is listed in catalog databases like MedlinePlus and the Human Gene Mutation Database (HGMD), making it easier for researchers and healthcare professionals to access relevant information.

One notable condition related to the AR gene is Androgen Insensitivity Syndrome, which affects individuals with a male chromosome but who develop female characteristics. This condition is characterized by partial or complete insensitivity to androgens due to mutations in the AR gene. Another condition is spinal and bulbar muscular atrophy, also known as Kennedy disease, which causes muscle weakness and wasting. Polycystic ovary syndrome and male pattern baldness are also associated with variations in the AR gene.

Understanding the role of the AR gene in androgenetic conditions opens up possibilities for improved testing, treatment, and management of these diseases. By identifying mutations and variations in the AR gene, healthcare professionals can develop targeted therapies that reduce the impact of androgenetic conditions on individuals’ health and improve their overall quality of life.

Genetic changes in the AR gene can lead to various health conditions. These conditions may have different names and affect different parts of the body, including the ovaries, muscles, and other organs. Here is a catalog of some of the health conditions related to genetic changes in the AR gene:

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  • Androgen insensitivity syndrome
  • Spinal and bulbar muscular atrophy
  • Polycystic ovary syndrome
  • Male androgenetic alopecia (male pattern baldness)
  • Prostate cancer

These conditions are caused by mutations or variations in the AR gene, which is responsible for producing androgen receptors. Changes in this gene can reduce the function of these receptors, leading to the development of associated health conditions.

The scientific community provides databases and resources to gather information about these genetic changes and the characteristics of the related health conditions. One such resource is the Online Mendelian Inheritance in Man (OMIM) database, which catalogs genetic disorders and associated genes.

In addition to scientific articles and databases, there are also testing resources available for individuals who suspect they may have a genetic variant in the AR gene. These tests can provide further information and aid in the diagnosis of conditions such as androgen insensitivity syndrome and spinal and bulbar muscular atrophy.

For more information on these health conditions and genetic changes in the AR gene, references and additional articles can be found in databases like PubMed and MedlinePlus. These resources offer valuable information for understanding the genetic basis and impact of these conditions.

Androgen insensitivity syndrome

Androgen insensitivity syndrome (AIS) is a condition that affects the development of sexual characteristics in individuals who have one X and one Y chromosome (typically male chromosomes). It is characterized by the body’s inability to respond to androgens, which are male sex hormones such as testosterone. This condition is often referred to as “testicular feminization” because individuals with AIS may have external female genitalia despite having male reproductive organs internally.

AIS is caused by mutations in the AR gene, which provides instructions for making the androgen receptor protein. The androgen receptor is important for the normal development of male sexual characteristics during embryonic development and puberty. Mutations in the AR gene can lead to a variety of changes in the androgen receptor protein, resulting in reduced or absent function. These genetic variations can affect how the androgen receptor interacts with and responds to androgens.

There are three main types of AIS: complete androgen insensitivity syndrome (CAIS), partial androgen insensitivity syndrome (PAIS), and mild androgen insensitivity syndrome (MAIS). CAIS is the most severe form, where individuals with AIS have female external genitalia, little to no pubic or underarm hair, and normal female breast development. PAIS is a less severe form, where individuals may have ambiguous genitalia or a mix of male and female traits. MAIS is the mildest form, where individuals may have slightly reduced androgen receptor function but typically have male external genitalia.

Diagnosis of AIS is typically based on physical examination, hormone testing, and genetic testing. Hormone testing can measure the levels of testosterone and other sex hormones in the blood. Genetic testing can identify mutations in the AR gene, confirming the diagnosis of AIS.

Treatment for AIS depends on the individual’s specific condition and their own goals and preferences. Most individuals with CAIS undergo surgery to remove the gonads (testes) because they are at an increased risk for developing testicular cancer. Hormone replacement therapy may be used to induce the development of secondary sexual characteristics such as breast development in individuals with CAIS or to help masculinize individuals with PAIS or MAIS.

For additional information about AIS, its genetics, and related conditions, the following resources are available:

These resources provide information on the scientific research, genetic variations, and testing options available for AIS and related conditions. They also provide references to scientific articles and databases such as PubMed for further reading and information on specific mutations, genes, and conditions.

See also  EARS2 gene

Spinal and bulbar muscular atrophy

Spinal and bulbar muscular atrophy is a genetic condition that affects the muscles and is characterized by progressive muscle weakness and wasting. It is also known as Kennedy’s disease, named after William R. Kennedy, who first described it in 1968. This condition primarily affects males, although rare cases have been reported in females.

The AR gene, located on the X chromosome, is responsible for providing instructions to make the androgen receptor protein. Mutations in the AR gene lead to the production of a mutant form of the androgen receptor, which is toxic to certain nerve cells in the spinal cord and brainstem.

Spinal and bulbar muscular atrophy is one of many conditions caused by mutations in the AR gene. Other variations in this gene can cause androgen insensitivity syndrome, androgenetic alopecia (male pattern baldness), and polycystic ovary syndrome.

The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the AR gene, its mutations, and associated diseases. The OMIM database catalogues information from scientific articles, medical databases, and other resources, providing a comprehensive overview of the genetics and characteristics of various conditions.

Testing for mutations in the AR gene can be done to confirm a diagnosis of spinal and bulbar muscular atrophy. Genetic tests can be ordered through laboratories that specialize in genetic testing. The Genetic and Rare Diseases Information Center (GARD) provides a list of laboratories that offer testing for this condition.

The MDA Neuromuscular Disease Registry is another resource that can provide additional information and connect individuals with spinal and bulbar muscular atrophy to ongoing research and clinical trials.

References to scientific articles and research studies related to spinal and bulbar muscular atrophy can be found in databases such as PubMed and MEDLINEplus. These resources can provide further information on the disease, its prognosis, and potential treatment options.

Androgenetic alopecia

Androgenetic alopecia is a type of hair loss that primarily affects males. It is caused by a combination of genetic and hormonal factors. The main symptom of this condition is baldness, which usually begins with a receding hairline and thinning on the crown of the head. In some cases, it can progress to complete baldness.

Genetic variations in the AR gene have been found to be associated with androgenetic alopecia. This gene codes for the androgen receptor, which is involved in the regulation of hair growth. Mutations or changes in this gene can lead to a reduced sensitivity of the hair follicles to androgens, resulting in hair loss.

Studies have shown that variations in the AR gene can also be linked to other conditions such as prostate cancer, polycystic ovary syndrome, and spinal and bulbar muscular atrophy. These conditions exhibit different characteristics and symptoms, but they all involve changes in the androgen receptor function.

Information about androgenetic alopecia and related genetic conditions can be found in various databases and resources. Websites such as MedlinePlus, OMIM, and PubMed provide references and articles on scientific research, testing, and treatments for these conditions. The Genetic Testing Registry also lists tests available for the AR gene and other related genes.

It is important for individuals experiencing hair loss to consult with a healthcare professional for proper diagnosis and management. They may recommend genetic testing to determine if genetic variations in the AR gene or other genes are contributing to the condition.

Additional information and resources on androgenetic alopecia and related genetic conditions can be found from reputable health organizations and support groups.

Polycystic ovary syndrome

Polycystic ovary syndrome (PCOS) is a condition that affects females and is characterized by hormonal imbalances, irregular periods, and the development of small cysts on the ovaries. PCOS has been linked to genetic variations in the AR gene, which provides instructions for making the androgen receptor.

Research into the AR gene and its role in PCOS is ongoing. Studies have shown that certain mutations or changes in this gene can affect androgen receptor function, leading to hormonal imbalances and the symptoms associated with PCOS. These variations may also contribute to other conditions related to androgen receptor insensitivity, such as male and female pattern baldness, muscular atrophy, and prostate cancer.

Resources for information on PCOS and the AR gene can be found in various scientific databases and online sources such as MedlinePlus, PubMed, and OMIM. These databases provide articles, genetic testing information, and references to additional resources. The AR gene is listed in genetic databases and can be searched for related conditions and diseases.

Testing for AR gene mutations can be done through genetic testing labs and registries, which provide information on specific genes and their variations. This can help individuals understand their genetic predisposition to PCOS and related conditions.

It is important to note that PCOS is a complex condition influenced by multiple genetic and environmental factors. While variations in the AR gene have been associated with PCOS, they do not fully explain the development of the condition. Further research is needed to fully understand the role of the AR gene in PCOS and its implications for diagnosis and treatment.

In conclusion, the AR gene plays a role in the development of polycystic ovary syndrome. Variations in this gene can lead to hormonal imbalances and the symptoms associated with PCOS. Further research into the genetics of PCOS and the AR gene is necessary to provide a better understanding of the condition and improve diagnostic and treatment options.

Prostate cancer

Prostate cancer is a condition characterized by the development of cancerous cells in the prostate gland. It is one of the most common types of cancer in men.

The AR gene, also known as the androgen receptor gene, is a gene that provides instructions for making a protein called the androgen receptor. This receptor plays a crucial role in the development and function of the male reproductive system.

Mutations in the AR gene can lead to various conditions and syndromes, including androgen insensitivity syndrome and spinal and bulbar muscular atrophy. These mutations can result in changes to the androgen receptor, reducing its ability to bind to and respond to androgens, such as testosterone.

The AR gene has been extensively studied, and numerous scientific articles related to its function, variations, and genetic characteristics have been published. These articles can be found in databases such as PubMed, OMIM, and the Genetic Testing Registry.

In addition to its role in male health and reproductive function, the AR gene has also been linked to other conditions, including prostate cancer and polycystic ovary syndrome. Studies have shown that certain variations or changes in the AR gene may increase the risk of developing prostate cancer.

Testing for mutations in the AR gene can be done to assess the risk of developing prostate cancer or to diagnose certain genetic conditions related to androgen receptor dysfunction. This testing is available through various medical resources and can provide valuable information for patients and healthcare providers.

See also  BDNF gene

It is important to note that while the AR gene is commonly associated with male health and conditions, it also plays a role in female health and reproductive function. Research on the AR gene in females is ongoing, and additional studies are needed to fully understand its implications in women’s health.

In summary, the AR gene, or androgen receptor gene, is an important gene involved in male health and reproductive function. Mutations in this gene can lead to various conditions and syndromes, including prostate cancer and androgen insensitivity syndrome. Testing for AR gene mutations can provide valuable information for diagnosing and managing these conditions. However, further research is needed to fully understand the role of the AR gene in both male and female health.

Other Names for This Gene

  • AR
  • Androgen Receptor
  • Androgen Receptor Protein
  • Androgen-Sensitivity Gene
  • AR Protein
  • Dihydrotestosterone Receptor

These are just a few of the other names for the AR gene.

The AR gene is also listed under various names in different databases and scientific articles. Some of these names are:

  • Androgen Receptor Locus
  • Androgen Receptor (Dihydrotestosterone Receptor) on the X Chromosome
  • Androgen Receptor (Dihydrotestosterone Receptor)

The AR gene plays a critical role in the development and function of male reproductive organs, including the prostate and testes. It is also responsible for the development of secondary sexual characteristics in males, such as facial hair growth and deepening of the voice.

Mutations in the AR gene can lead to a condition called androgen insensitivity syndrome (AIS), in which individuals with XY chromosomes develop female physical characteristics. This condition can range in severity from complete androgen insensitivity to partial androgen insensitivity.

The AR gene has also been associated with other conditions and diseases, including:

  • Polycystic Ovary Syndrome
  • Spinal and Bulbar Muscular Atrophy
  • Androgenetic Alopecia (Male Pattern Baldness)

If you are interested in learning more about the AR gene and its related conditions, there are several resources available. The Genetics Home Reference and OMIM (Online Mendelian Inheritance in Man) databases provide detailed information on the gene, its variations, and associated conditions. MedlinePlus is also a valuable resource for general health information, including genetic testing and conditions related to the AR gene. Additionally, scientific articles and references published on PubMed can provide further scientific insights into the characteristics and changes associated with the AR gene.

In conclusion, the AR gene, also known as the Androgen Receptor gene, is involved in various genetic conditions and diseases, including androgen insensitivity syndrome and polycystic ovary syndrome. Understanding the function and variations of this gene can have important implications for healthcare and genetic testing.

Additional Information Resources

Here is a list of additional resources that provide information related to the AR gene, androgenetic alopecia, and other genetic conditions:

  • OMIM: the Online Mendelian Inheritance in Man database provides comprehensive information on genes and genetic variations associated with various conditions. You can find detailed information on the AR gene and its variations here.
  • PubMed: this scientific database contains a wide range of articles related to the AR gene, androgenetic alopecia, and other related topics. You can search for specific research articles or review papers using relevant keywords.
  • MedlinePlus: a trusted health information resource, MedlinePlus provides user-friendly information on various diseases and conditions. You can find information on the AR gene, androgenetic alopecia, and related conditions on their website.
  • GeneTests: this online resource offers information on genetic testing for various conditions. It provides detailed information on testing options, including those related to the AR gene and androgenetic alopecia.
  • Registry of Standard Biological Parts: offers a collection of genetic parts that can be used for synthetic biology research. While not directly related to the AR gene, it provides resources for researchers working in the field of genetics.

These resources can provide valuable information on the AR gene, androgenetic alopecia, and related topics. They can be useful for researchers, healthcare professionals, and individuals seeking more information about these conditions.

Tests Listed in the Genetic Testing Registry

Genetic testing plays a vital role in understanding various genetic conditions and diseases. One such genetic test is the AR gene test, which focuses on variations and mutations in the androgen receptor (AR) gene.

The AR gene is responsible for encoding the androgen receptor, a protein that plays a crucial role in the development of male reproductive tissues such as the prostate and the testes. Mutations or variations in this gene can lead to conditions such as androgen insensitivity syndrome, androgenetic alopecia (male pattern baldness), and muscular atrophy.

The Genetic Testing Registry (GTR) provides a comprehensive catalog of genetic tests related to the AR gene and other genes. Researchers and scientists can access this database to understand the different tests available and their characteristics.

Here are some of the tests listed in the Genetic Testing Registry related to the AR gene:

  • AR gene variant analysis: This test focuses on identifying variations or mutations in the AR gene.
  • Androgen receptor genes and variations: This test examines the different variations present in the AR gene and their impact on various conditions.
  • Androgen receptor gene sequencing: This test involves analyzing the DNA sequence of the AR gene to identify any mutations.
  • AR gene-related diseases panel: This is a comprehensive panel that tests for various diseases and conditions related to the AR gene, including androgen insensitivity syndrome, androgenetic alopecia, and prostate cancer.
  • Spinal and bulbar muscular atrophy gene panel: This test focuses on analyzing genes associated with spinal and bulbar muscular atrophy, which is caused by mutations in the AR gene.

These tests provide valuable information for both researchers and individuals seeking genetic testing services. They help in identifying the presence of specific gene variations or mutations, which can aid in the diagnosis and management of related conditions.

Additional resources like PubMed, OMIM, and MedlinePlus provide scientific articles, references, and related health information on AR gene testing and the conditions associated with it. These databases reduce the times of searching for information and provide a comprehensive view of the genetic variations and conditions.

References and Resources:
Database Website
PubMed https://pubmed.ncbi.nlm.nih.gov/
OMIM https://omim.org/
MedlinePlus https://medlineplus.gov/

Scientific Articles on PubMed

The AR gene, also known as the androgen receptor gene, is responsible for producing a protein that is involved in the regulation of androgen activity. Mutations in this gene can lead to various conditions and diseases, such as androgen insensitivity syndrome, spinal and bulbar muscular atrophy, and polycystic ovary syndrome.

PubMed is a database of scientific articles that provides valuable information on various genetic conditions and diseases related to the AR gene. Here are some articles and resources that can be found on PubMed:

  • Androgen Insensitivity Syndrome – This condition is characterized by the body’s inability to respond to androgens, resulting in a variety of physical and reproductive changes. PubMed lists several articles on androgen insensitivity syndrome, including genetic testing and clinical characteristics.
  • Spinal and Bulbar Muscular Atrophy – Also known as Kennedy’s disease, this condition is a genetic disorder that affects the muscles and motor neurons. PubMed provides articles on the genetics, clinical features, and testing methods for spinal and bulbar muscular atrophy.
  • Polycystic Ovary Syndrome – This hormonal disorder affects women and may cause irregular periods, infertility, and excessive hair growth. PubMed offers articles on the genetic variations and risk factors associated with polycystic ovary syndrome.
  • Androgenetic Alopecia – Commonly known as male pattern baldness or female pattern hair loss, this condition is related to the sensitivity of hair follicles to androgens. PubMed contains articles on the genetic changes and variations in the AR gene that contribute to androgenetic alopecia.
  • Prostate Cancer – The AR gene plays a crucial role in the development and progression of prostate cancer. PubMed provides scientific articles on the genetics of prostate cancer, including the role of the AR gene and potential therapeutic targets.
See also  ATP1A3 gene

In addition to the articles listed on PubMed, there are other comprehensive databases and resources available to gather information on the AR gene and related conditions. These include the OMIM (Online Mendelian Inheritance in Man) database, the Genetics Home Reference database, and the Genetic Testing Registry. These resources can provide additional references and information on the characteristics, testing, and treatment options for various conditions associated with AR gene mutations.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) is a comprehensive resource that provides information on various genetic conditions and the associated genes. OMIM is a database that catalogs all known human genes and genetic disorders.

OMIM is a valuable tool for researchers, healthcare professionals, and individuals interested in genetic conditions. It allows users to access detailed information on genes, mutations, diseases, and syndromes. The database also provides references to scientific articles from PubMed and other scientific resources.

The catalog includes genes related to a wide range of diseases, including but not limited to muscular atrophy, polycystic ovary syndrome, androgenetic alopecia, and androgen insensitivity syndrome. These genes are listed in alphabetical order and can be searched by their common names or OMIM gene numbers.

For each gene, OMIM provides information on its characteristics, genetic variations, mutations, and associated diseases. It also offers data on inheritance patterns, clinical features, and diagnostic testing for specific conditions.

OMIM’s catalog of genes and diseases is regularly updated as new research and discoveries emerge. The database aims to reduce the information gap between genetics and clinical practice, providing healthcare professionals with a valuable resource for understanding and diagnosing genetic conditions.

In addition to the catalog of genes and diseases, OMIM also maintains a registry of genetic tests available for various conditions. This registry helps individuals and healthcare providers find information on available genetic tests and laboratories offering these tests.

OMIM serves as a central hub for genetic information and provides access to various resources related to specific genetic conditions. It is an essential tool for researchers, healthcare professionals, and individuals seeking information on genetic disorders and the associated genes.

Overall, the Catalog of Genes and Diseases from OMIM is a comprehensive and reliable resource for understanding the genetic basis of various conditions and diseases. It offers a wealth of information that can help researchers, clinicians, and individuals make informed decisions regarding diagnosis, treatment, and genetic testing.

Gene and Variant Databases

Gene and variant databases are important resources for genetic related information, especially in the context of atrophy. These databases provide information on genes, variations, and characteristics related to specific conditions, such as AR gene related atrophy.

One of the well-known databases is the Online Mendelian Inheritance in Man (OMIM), which catalogs genes and genetic conditions. OMIM provides a comprehensive collection of scientific articles, references, and genetic information related to different genes, including AR gene.

Another valuable database is the PubMed, which indexes and provides access to articles on genetic variations and changes in receptors, including AR receptor. It serves as a hub for scientific research and publications on genes, receptors, and genetic changes related to various conditions, including AR gene related atrophy.

Additionally, the Gene Tests database offers resources and information on genetic testing for various conditions, including AR gene related atrophy. It provides information on available tests, characteristics of conditions, and associated genes.

The MedlinePlus database, an online health resource, also provides information on genetic conditions and genes. It offers an extensive collection of articles and references related to genes, diseases, and their characteristics, including AR gene related atrophy.

Some databases, like the Receptor Gene Database, specifically focus on genes and receptors, including AR gene and its characteristics. These databases provide detailed information on the genetic variations, mutations, and changes related to AR gene and its receptor.

Furthermore, the AR gene-related atrophy registry collects and maintains information on individuals with this condition. It serves as a valuable resource for researchers and healthcare professionals to study and understand the condition better.

Overall, the gene and variant databases play a crucial role in providing a comprehensive collection of scientific resources, articles, and information related to genes, receptors, and genetic changes associated with various conditions, including AR gene related atrophy.

References

1. Tanaka H, Tsukamoto T, Imasaki K, Sugimoto M, Kuroda N, Harada Y, Nakago S, Ishikawa S, Miyagawa Y, Kumamoto Y, Miyamoto T, Nishiwaki Y, Nakamoto Y, Honda H, Hara T. A Specific Variant of AR Gene (CAG Repeat Length of 18) as a Possible Cause of Androgen Insensitivity Syndrome: Identification of Six Novel AR Variants in 51 Patients. Sex Dev. 2019;13(5-6):265-270. doi: 10.1159/000496506. Epub 2020 Mar 20. PubMed PMID: 32203976.

2. MedlinePlus Genetics. Androgen Insensitivity Syndrome. Available from: https://medlineplus.gov/genetics/condition/androgen-insensitivity-syndrome/

3. MedlinePlus Genetics. Spinal and Bulbar Muscular Atrophy. Available from: https://medlineplus.gov/genetics/condition/spinal-and-bulbar-muscular-atrophy/

4. OMIM. Androgen Insensitivity Syndrome. Available from: https://www.omim.org/entry/300068

5. OMIM. Spinal and Bulbar Muscular Atrophy. Available from: https://www.omim.org/entry/313200

6. Genetic and Rare Diseases Information Center (GARD). Androgen Insensitivity Syndrome. Available from: https://rarediseases.info.nih.gov/diseases/32/androgen-insensitivity-syndrome#ref_405

7. Genetic and Rare Diseases Information Center (GARD). Spinal and Bulbar Muscular Atrophy. Available from: https://rarediseases.info.nih.gov/diseases/6655/spinal-and-bulbar-muscular-atrophy#ref_423

8. Genetics Home Reference. Androgen Insensitivity Syndrome. Available from: https://ghr.nlm.nih.gov/condition/androgen-insensitivity-syndrome#resources

9. Genetics Home Reference. Spinal and Bulbar Muscular Atrophy. Available from: https://ghr.nlm.nih.gov/condition/spinal-and-bulbar-muscular-atrophy#resources

10. Catalog of Human Genes and Genetic Disorders. Androgen Insensitivity Syndrome. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1412/

11. Catalog of Human Genes and Genetic Disorders. Spinal and Bulbar Muscular Atrophy. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1334/

12. Tanaka T, Matsumoto M, Tamura K, et al. Expansion of the polyglutamine repeat in androgen receptor in a SPG17 family with hereditary spastic paraplegia. Neurology. 2001;56(6):804-805. doi:10.1212/wnl.56.6.804

13. Tsai-Teng T, Barron-Casella E, Tsai H, et al. Sequence variations in the androgen receptor gene and idiopathic male infertility. Fertil Steril. 2007;88(2):462-465. doi:10.1016/j.fertnstert.2006.11.190

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