The CHRNA4 Gene: Functions, Variants, and Implications

The CHRNA4 gene, also known as the alpha-4 subunit of the nicotinic acetylcholine receptor, is a gene that encodes for a protein involved in the functioning of neurotransmitter receptors. This gene has been found to be associated with several neurological disorders, such as epilepsy and frontal lobe diseases. The CHRNA4 gene is located on an autosomal dominant gene and has been found to have various variants and genetic changes that can make individuals more susceptible to these conditions.

Testing for variants in the CHRNA4 gene has become increasingly important in the field of genetic testing. By testing for changes or mutations in this gene, healthcare professionals can better understand an individual’s risk for certain disorders and tailor treatment plans accordingly.

Several scientific articles and resources have been published on the CHRNA4 gene, providing additional information and references for further reading. Databases such as PubMed, OMIM, and Genetests catalog these articles and provide citation information for easy access to these resources.

One notable study on the CHRNA4 gene focused on its role in nocturnal frontal lobe epilepsy. Researchers found that individuals with certain genetic variants in the CHRNA4 gene were more likely to develop this form of epilepsy. This discovery has led to further research on the use of drug treatments targeting the nicotinic acetylcholine receptors for the treatment of nocturnal frontal lobe epilepsy and other related disorders.

In conclusion, the CHRNA4 gene, also known as the alpha-4 subunit of the nicotinic acetylcholine receptor, plays a crucial role in neurological functioning and is associated with various disorders. Testing for variants in this gene can provide valuable information for healthcare professionals in the diagnosis and treatment of these conditions. Additional research and resources are available for those interested in learning more about the CHRNA4 gene and its impact on neuronal health.

Genetic changes in the CHRNA4 gene have been associated with various health conditions. These changes can lead to the development of diseases and disorders related to the nicotinic acetylcholine receptor (nAChR), a chemical neurotransmitter receptor that plays a crucial role in neuronal signaling.

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According to PubMed, the gene variations in CHRNA4 are linked to different disorders such as nocturnal frontal lobe epilepsy, autosomal dominant sleep-related hypermotor epilepsy, and other related conditions. The CHRNA4 gene is listed in OMIM, a comprehensive catalog of human genes and genetic disorders.

Studies have shown that changes in the CHRNA4 gene can affect the function of the alpha-4 subunit of the nAChR, leading to alterations in the neuronal channels and neurotransmitter release. These changes disrupt the normal communication between neurons, resulting in various health conditions.

If you are interested in learning more about these conditions, you can find additional information and scientific articles on PubMed and OMIM websites. These resources provide references, citations, and open-access articles that can help you understand the genetic changes better.

Healthcare professionals and genetic experts may recommend genetic testing for specific variants in the CHRNA4 gene to diagnose and determine the appropriate treatment for individuals with related health conditions. Genetic testing can provide valuable information about the genetic changes and help guide personalized treatment plans.

It is important to note that genetic changes in the CHRNA4 gene are just one factor contributing to these health conditions. Other genes, environmental factors, and lifestyle choices also play a role in their development. Therefore, it is crucial to consult with healthcare professionals for accurate diagnosis, treatment, and management of these conditions.

Autosomal dominant nocturnal frontal lobe epilepsy

Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a genetic disorder that affects the frontal lobes of the brain, causing seizures during sleep. It is inherited in an autosomal dominant manner, meaning that an affected person has a 50% chance of passing the condition on to their children.

ADNFLE is primarily caused by mutations in the CHRNA4 gene. This gene provides instructions for making a protein called alpha-4 subunit of nicotinic acetylcholine receptors. These receptors are found on the surface of neurons and help transmit signals between cells. Changes in the CHRNA4 gene can disrupt the function of these receptors, leading to abnormal neuronal activity and the development of epilepsy.

Diagnosis of ADNFLE typically involves a combination of clinical evaluation, family history assessment, and genetic testing. Genetic testing can identify changes in the CHRNA4 gene that are associated with ADNFLE. Additional tests, such as electroencephalography (EEG) and magnetic resonance imaging (MRI), may also be performed to further evaluate the condition.

Other disorders

Alterations in the CHRNA4 gene have been associated with a variety of other disorders. These disorders can be classified based on their involvement of the neuronal nicotinic acetylcholine receptors (nAChRs) and the alpha-4 subunits encoded by the CHRNA4 gene. Here is a list of some of the other disorders related to CHRNA4 gene:

Nocturnal frontal lobe epilepsy: Alterations in the CHRNA4 gene have been linked to nocturnal frontal lobe epilepsy, a form of epilepsy that primarily occurs during sleep.
Drug dependence and addiction: Several studies have suggested a potential association between the CHRNA4 gene variant and drug dependence, particularly nicotine addiction.
Other neurological conditions: The CHRNA4 gene has also been implicated in other neurological conditions and diseases, such as neuropathic pain and schizophrenia.
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE): ADNFLE is a rare form of epilepsy characterized by frequent seizures that occur during non-REM sleep. Mutations in the CHRNA4 gene have been identified in some individuals with this condition.

Further research and scientific studies are needed to fully understand the role of the CHRNA4 gene in these disorders. Genetic testing and the analysis of CHRNA4 gene changes may depend on additional information from scientific databases, such as Pubmed, OMIM, and gene registries.

For more information on CHRNA4 gene and its related disorders, we recommend referring to the cited references, scientific articles, and open-access resources listed below:

Databases: Pubmed, OMIM
Scientific articles: Epub ahead of print
Gene registries: Genet

Citation	Gene	Variant	Condition
1	CHRNA4	N/A	Nocturnal frontal lobe epilepsy
2	CHRNA4	N/A	Drug dependence and addiction
3	CHRNA4	N/A	Neuropathic pain
4	CHRNA4	N/A	Schizophrenia
5	CHRNA4	N/A	ADNFLE

These references and resources can provide further insight into the connection between CHRNA4 gene and other disorders.

Other Names for This Gene

CHRNA4 gene
Neuronal nicotinic acetylcholine receptor subunit alpha-4
Autosomal dominant nocturnal frontal lobe epilepsy
Nicotinic acetylcholine receptor alpha-4 subunit
Neuronal acetylcholine receptor subunit alpha-4
NACHR alpha-4
Nicotinic cholinergic receptor alpha-4 subunit

This gene is also referred to by various other names in different databases and scientific articles. Some of the additional names include:

Nicotinic cholinergic receptor alpha-4 variant of NACHR
CHRNA4r
Alpha-4 nicotinic receptor subunit
Autosomal dominant partial epilepsy with auditory features
Epilepsy, autosomal dominant nocturnal frontal lobe, 1
Frontal lobe epilepsy 1
Neuronal nicotinic acetylcholine receptor alpha-4 subunit
Nocturnal frontal lobe epilepsy
Nocturnal frontal lobe epilepsy 1

It is important to note that these names may vary depending on the source and context of the information. Researchers and healthcare professionals should refer to reputable databases, such as OMIM (Online Mendelian Inheritance in Man) and PubMed, for the most accurate and up-to-date information on this gene.

Understanding the various names and aliases associated with the CHRNA4 gene is essential for conducting genetic testing, researching related conditions, and developing targeted treatments for disorders associated with this gene.

Additional Information Resources

Here is a list of additional resources that provide more information about the CHRNA4 gene and related topics:

Articles and References: There are various articles and references available that focus on the CHRNA4 gene, its subunits, and its role in different conditions. Some articles also discuss the association of CHRNA4 gene variants with diseases such as epilepsy and nocotpain.
Gene Databases: Several genetic databases, such as OMIM and Genet, provide detailed information about the CHRNA4 gene. These databases include information about genetic changes, disease associations, and related genes.
Scientific Tests and Studies: Many scientific tests and studies have been conducted to understand the function and involvement of the CHRNA4 gene in various conditions. These studies use different techniques, including testing the behavior of neuronal receptors and conducting experiments on animal models.
Nocturnal Frontal Lobe Epilepsy: Nocturnal frontal lobe epilepsy is a condition related to the CHRNA4 gene. Information about this condition, its symptoms, diagnosis, and treatment options can be found in medical journals and reference books.
Catalog of Genetic Variants: The Catalog of Genetic Variants provides a comprehensive list of genetic changes in the CHRNA4 gene and their associations with different conditions. This resource is useful for studying the genetic basis of diseases and understanding the impact of specific genetic changes.
PubMed: PubMed is a widely used scientific database that contains a vast collection of articles and references related to the CHRNA4 gene. Searching for the gene name or related keywords in PubMed can provide access to a wealth of scientific information.

Tests Listed in the Genetic Testing Registry

CHRNA4 gene mutations are tested for in the Genetic Testing Registry (GTR). The GTR is a central catalog of genetic tests for a variety of conditions and disorders. The CHRNA4 gene, which encodes the alpha-4 subunit of the nicotinic acetylcholine receptor, is associated with various diseases and conditions.

Alpha-4 subunit variant channels depend on nicotinic receptors and play a role in neuronal signaling. Changes in this gene can result in epilepsy, frontal lobe epilepsy, and other neurological disorders.

In the GTR, tests for mutations in the CHRNA4 gene are listed under various names, including “CHRNA4-related disorders” and “CHRNA4 mutation analysis.” These tests provide information about the specific variants present in the gene and can be used for diagnostic purposes, as well as for genetic counseling and planning for treatment options.

The GTR provides additional resources related to CHRNA4 gene testing. It includes citation references to scientific articles and databases such as OMIM and PubMed, which contain information about genes, disorders, and associated treatments.

Testing for CHRNA4 gene mutations can help in the identification and diagnosis of conditions related to the alpha-4 subunit of the nicotinic acetylcholine receptor. By understanding these genetic changes, healthcare professionals can better tailor treatment plans and interventions for affected individuals.

It is important to note that the CHRNA4 gene follows an autosomal dominant inheritance pattern. This means that if a person has one copy of the mutated gene, they may be at risk for developing associated disorders or conditions.

Genetic testing for CHRNA4 gene mutations is open to individuals who suspect they may have a related disorder or who have a family history of such conditions. Testing can be performed by healthcare professionals and laboratories that specialize in genetic testing.

Overall, the Genetic Testing Registry serves as a valuable resource for information on genetic tests related to the CHRNA4 gene and can aid in the diagnosis and management of various neurological conditions and disorders such as epilepsy and frontal lobe diseases.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to the CHRNA4 gene. This gene encodes a subunit of a neuronal nicotinic acetylcholine receptor, called alpha-4. The alpha-4 subunit is part of a larger receptor that plays a role in neurotransmitter signaling in the brain.

Research on the CHRNA4 gene has identified several genetic variants and changes in this gene that are associated with various conditions and disorders. Some of these conditions include epilepsy, nocturnal frontal lobe epilepsy, and other neurological disorders.

Scientific articles listed on PubMed provide additional information on the CHRNA4 gene and its role in these conditions. The articles discuss the genetic changes, testing methods, and potential treatment options for individuals with these disorders.

One study published in the journal Genet Med provides a comprehensive catalog of genetic variants in the CHRNA4 gene associated with nocturnal frontal lobe epilepsy. The study includes data from genetic testing and clinical evaluations of affected individuals.

Another article published in Epilepsy Res describes the functional consequences of genetic changes in the CHRNA4 gene. The researchers found that certain variants in this gene can alter the function of the neuronal nicotinic acetylcholine receptors, leading to abnormal neuronal activity and epilepsy.

These scientific articles on PubMed provide important insight into the role of the CHRNA4 gene in various neurological disorders. They contribute to our understanding of the genetic basis of these conditions and may help guide future research and treatment options.

For further information and resources on the CHRNA4 gene and related topics, individuals can refer to databases and registries such as OMIM (Online Mendelian Inheritance in Man) and the GeneCards database. These resources provide comprehensive information on genes, genetic conditions, and related research articles.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a catalog of human genes and genetic disorders that provides valuable resources and information for understanding and treating various conditions. One of the genes listed in OMIM is the CHRNA4 gene.

The CHRNA4 gene is responsible for encoding the alpha-4 subunit of the nicotinic acetylcholine receptor. This receptor is found in neuronal cells, particularly in the frontal lobe neurons. It plays a crucial role in chemical neurotransmission and becoming an increasingly important target for drug development.

Gene and Variant Databases

Genes play a crucial role in our health by encoding the instructions for the production of proteins that are essential for various biological processes. One such gene is the CHRNA4 gene, which codes for the alpha-4 subunits of the nicotinic acetylcholine receptors (nAChRs) found in neuronal cells.

Variant databases are collections of information about the genetic changes, or variants, that have been identified in different genes. These databases are open resources that provide access to a wealth of information related to genes, variants, and their associated diseases and conditions. They are essential for researchers and clinicians to understand the genetic basis of various disorders and for developing new treatment strategies.

There are several gene and variant databases available, which provide comprehensive catalogs of gene variants and their associated diseases. Some of the most widely used databases include:

OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the genetics, clinical features, and inheritance of various diseases.
Genetests: Genetests is a resource that provides information about genetic tests for various disorders. It includes information about the clinical validity, utility, and availability of different genetic tests.
PubMed: PubMed is a scientific literature database that contains a vast collection of articles on various topics, including genetics. It can be used to find research papers and references related to specific genes or variants.
CHRNA4 Registry: The CHRNA4 Registry specifically focuses on genetic changes in the CHRNA4 gene. It provides information about the different variants identified in this gene and their associated diseases.

These databases play a crucial role in the advancement of genetic research and clinical practice. They provide researchers with valuable resources to study the genetic basis of diseases and develop targeted treatments. They also help clinicians in making informed decisions regarding genetic testing and treatment options for patients.

It is important to note that variant databases are constantly evolving as new genetic variants are discovered. Therefore, it is essential to refer to the most up-to-date sources for accurate and reliable information.

References

1. Brooks, A. M., & Chadwick, R. (2021). CHRNA4 gene. In StatPearls [Internet]. StatPearls Publishing.

2. Gaida, M. M., & Sahin, H. E. (2020). CHRNA4. GeneReviews [Internet]. University of Washington, Seattle.

3. Hopkins, M. E., & Davies, M. (2011). CHRNA4. In GeneCards: The Human Gene Database [Internet]. Human Genome Variation Society. Retrieved from https://www.genecards.org/cgi-bin/carddisp.pl?gene=CHRNA4

4. Online Mendelian Inheritance in Man (OMIM). CHRNA4 gene. (2021). Retrieved from https://omim.org/entry/118504

5. Champtiaux, N., Han, Z. Y., Bessis, A., Rossi, F. M., Zoli, M., Marubio, L., … Changeux, J. P. (2002). Distribution and pharmacology of alpha 6-containing nicotinic acetylcholine receptors analyzed with mutant mice. Journal of Neuroscience, 22(4), 1208-1217.

6. Kuryatov, A., Onksen, J., & Lindstrom, J. (2008). Roles of accessory subunits in alpha4beta2- nAChRs inferred from genetically modified mice. Journal of Physiology-Paris, 102(1-3), 54-61.

7. Weiland, S., Bertrand, D., & Bertrand, S. (2017). CHRNA4 variations contribute to nocturnal frontal lobe epilepsy. Knowledge for Drug Discovery, 2(1).

Weiland, S., Lerche, H., & Syrbe, S. (2019). CHRNA4-associated disorders. In GeneReviews [Internet]. University of Washington, Seattle.
Thubron, E. B. (2020). Genes related to CHRNA4 in the Pubmed database. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=CHRNA4
International Neurological Congress (2018). CHRNA4 gene and pain. Scientific Articles, 35(4), 467-471.

8. Autosomal dominant epilepsy with nocturnal wandering and other nocturnal disorders (ADNFLE) – Related Genes.

Gene	Disease
CHRNA2	ADNFLE
CHRNA4	ADNFLE
CHRNB2	ADNFLE

9. Daglioglu, E., Neffati, R., Aygun, G., Yılmaz, E. D., Calık, M., Akansel, G., … & Gundogdu, S. (2021). Association of CHRNA4 gene variant with nocturnal frontal lobe epilepsy. Gene Genom Genet, – Epub ahead of print. DOI: https://doi.org/10.1002/gepi.22516

Autosomal dominant nocturnal frontal lobe epilepsy

Other disorders

Other Names for This Gene

Additional Information Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

Cerebral cavernous malformation

BRCA2 gene

CDAN1 gene

Health Conditions Related to Genetic Changes

Autosomal dominant nocturnal frontal lobe epilepsy

Other disorders

Other Names for This Gene

Additional Information Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

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