The ATP1A1 gene, also known as the alpha-a subunit of the Na+/K+ -ATPase, is a genetic variant that has been associated with several diseases and conditions. One of these conditions is Charcot-Marie-Tooth disease, a neurological disorder that affects the peripheral nerves and causes muscle weakness and numbness.
Scientists and researchers have been studying the ATP1A1 gene in order to gather more information about its role in various diseases. They have found that changes in this gene can lead to alterations in the Na+/K+ -ATPase pump, which is responsible for maintaining the balance of ions in cells. These changes can affect the function of this pump and contribute to the development of diseases such as Charcot-Marie-Tooth and aldosterone-producing adenoma.
There are several resources available for those interested in learning more about the ATP1A1 gene and its related conditions. Online databases and genetic testing companies provide information and tests for ATP1A1-related diseases. The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive catalog of genes and genetic conditions, including those related to ATP1A1. PubMed is another valuable resource, providing access to scientific articles and references related to this gene and its associated diseases.
In addition to these databases, there are also patient registries and support groups that provide additional information and support for individuals and families affected by ATP1A1-related diseases. These resources can help individuals to better understand their condition and connect with others who may be facing similar challenges. It is important to consult with healthcare professionals and genetic counselors when considering genetic testing and to ensure that any information obtained from these resources is used in an informed and responsible manner.
Health Conditions Related to Genetic Changes
Genetic changes in the ATP1A1 gene can lead to various health conditions. ATP1A1 codes for the alpha subunit of the sodium-potassium pump, an integral membrane protein that plays a critical role in maintaining the electrochemical gradient across cell membranes. Mutations in ATP1A1 can disrupt the function of this pump and cause a range of diseases.
One such condition is Charcot-Marie-Tooth disease, a group of inherited peripheral neuropathies characterized by muscle weakness and atrophy. Mutations in the ATP1A1 gene have been implicated in a subtype of Charcot-Marie-Tooth disease known as CMT2EE. Testing for genetic changes in ATP1A1 can help diagnose this condition.
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Additionally, genetic changes in ATP1A1 have been associated with aldosterone-producing adenoma, a type of adrenal tumor that overproduces aldosterone, a hormone involved in regulating blood pressure and electrolyte balance. Testing for ATP1A1 gene mutations can aid in the diagnosis of this disease.
The ATP1A1 gene is listed in various genetic databases and resources. The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on the genetic basis of diseases and is a valuable resource for learning about the ATP1A1 gene and its associated health conditions.
The GeneTests/Genetests Laboratory Directory offers a catalog of genetic tests for ATP1A1 and other genes. It provides information on available testing options, testing laboratories, and related articles. This resource can assist healthcare professionals and individuals seeking genetic testing and counseling.
Scientific journals and articles published in PubMed also contain valuable information on ATP1A1-related diseases and genetic changes. These articles provide in-depth research findings, case reports, and treatment options.
In conclusion, genetic changes in the ATP1A1 gene can contribute to various health conditions, including Charcot-Marie-Tooth disease and aldosterone-producing adenoma. Testing for ATP1A1 gene mutations and utilizing the resources and databases available can aid in diagnosing and managing these diseases.
An aldosterone-producing adenoma is a type of tumor that affects the aldosterone hormone-producing cells in the adrenal glands. This condition is also known as primary hyperaldosteronism or Conn syndrome. It is characterized by excessive production of aldosterone, leading to high blood pressure and low potassium levels.
Research on aldosterone-producing adenoma is extensively documented in various scientific publications, databases, and health resources. The following information highlights some key aspects of this genetic condition.
Genetics and ATP1A1 Gene
Aldosterone-producing adenoma has been associated with mutations in the ATP1A1 gene. ATP1A1 encodes the alpha subunit of the sodium-potassium ATPase pump. This pump helps maintain the balance of sodium and potassium ions in cells and is critical for various physiological functions.
The ATP1A1 gene has been extensively studied, and numerous mutations and genetic changes have been linked to aldosterone-producing adenoma. These changes affect the function of the sodium-potassium ATPase pump and lead to the overproduction of aldosterone.
Diagnostic Testing and Resources
Different diagnostic tests and resources are available to detect and study aldosterone-producing adenoma. Genetic testing can identify mutations in the ATP1A1 gene and provide valuable information for diagnosis and management.
Several databases and registries, such as PubMed and the Genetic Testing Registry, offer comprehensive information and references related to ATP1A1 gene mutations, aldosterone-producing adenoma, and related diseases.
Additionally, scientific articles, health resources, and other genetic databases can serve as valuable sources of additional information on the disease.
Aldosterone-Producing Adenoma and Other Conditions
Aldosterone-producing adenoma can be associated with other genetic and acquired conditions, including Charcot-Marie-Tooth disease, a hereditary neuropathy. Some studies have reported a possible connection between mutations in the ATP1A1 gene and Charcot-Marie-Tooth disease.
It is essential to consider these related conditions when diagnosing and managing aldosterone-producing adenoma to provide comprehensive care to patients.
Aldosterone-producing adenoma is a genetic condition characterized by excessive production of aldosterone due to mutations in the ATP1A1 gene. Diagnostic testing, genetic resources, and scientific articles provide valuable information and references for the study and management of this condition. It is important to consider related conditions, such as Charcot-Marie-Tooth disease, during diagnosis and management.
- Scientific articles and health resources offer valuable information on aldosterone-producing adenoma and related conditions.
- Genetic changes and mutations in the ATP1A1 gene are associated with aldosterone-producing adenoma.
- Diagnostic testing, such as genetic testing, can help identify ATP1A1 gene mutations.
- Databases, such as PubMed and the Gen
Charcot-Marie-Tooth disease is a genetic disorder that affects the peripheral nerves, leading to muscle weakness and atrophy. It belongs to a group of disorders known as hereditary motor and sensory neuropathies (HMSN).
One of the genes implicated in Charcot-Marie-Tooth disease is the ATP1A1 gene. This gene encodes the alpha-1 subunit of the sodium/potassium-transporting ATPase, also known as the sodium pump. Mutations in the ATP1A1 gene can lead to changes in the function or expression of the sodium pump, disrupting the normal functioning of nerve cells in the peripheral nervous system.
Charcot-Marie-Tooth disease can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner, depending on the specific mutation in the ATP1A1 gene. Different mutations in the ATP1A1 gene can result in variations in disease severity and age of onset.
Common symptoms of Charcot-Marie-Tooth disease include muscle weakness and wasting, sensory loss, foot deformities, and difficulties with motor skills. The severity and progression of the disease can vary among affected individuals.
Diagnosis of Charcot-Marie-Tooth disease can be confirmed through clinical evaluation, nerve conduction studies, electromyography, and genetic testing. Genetic testing can identify mutations in the ATP1A1 gene and other genes associated with Charcot-Marie-Tooth disease.
Treatment for Charcot-Marie-Tooth disease primarily focuses on supportive care to manage symptoms and improve quality of life. This may include physical therapy, orthopedic interventions, assistive devices, and pain management strategies.
Additional information on Charcot-Marie-Tooth disease, including related scientific articles, conditions, and resources, can be found on various databases and registries such as PubMed, OMIM, and the ATP1A1 gene catalog.
- Gene page for ATP1A1. Retrieved from the ATP1A1 gene catalog
- Charcot-Marie-Tooth Disease – Genetics Home Reference
- Charcot-Marie-Tooth Disease – National Organization for Rare Disorders (NORD)
- Charcot-Marie-Tooth Disease Type 1A – OMIM
Other Names for This Gene
- ATP1A1 gene
- Alpha-1 subunit of Na+/K+ ATPase
- Alpha-1 sodium pump
- ATPase, Na+/K+ transporting, alpha 1 polypeptide
- ATPase, Na+/K+ transporting, alpha 1 polypeptide isoform
- Alpha-1 isoform of Na+/K+ ATPase
- Sodium/potassium-transporting ATPase subunit alpha-1
- ATPase, Na+/K+ transporting, alpha 1 polypeptide pseudogene 1
Other names for the ATP1A1 gene include tauber, resources, atpases, mutations, additional, aldosterone, health, and from. For alpha and articles, it is also known as atpase and nak-atpase. In the context of Charcot-Marie-Tooth disease, it is related to the registry and adenoma. The alpha-a variant of this gene is listed in the catalog of genetic diseases and conditions. Testing and information on related changes can be found in scientific articles and references on Pubmed and OMIM. Testing for aldosterone-producing adenoma may also involve this gene.
Additional Information Resources
- Genetic Testing:
- Genet Test Registry: a comprehensive catalog of genetic tests and laboratories
- OMIM: a database for genetic conditions and genes
- Scientific Articles:
- PubMed: a database for scientific articles
- Related Genetic Diseases:
- Charcot-Marie-Tooth Disease
- Aldosterone-Producing Adenoma
- Other Resources:
- ATP1A1 gene changes
- Alpha-Na, K-ATPase
- Sodium-Potassium-Exchanging ATPase
For additional information on this gene, mutations, and related diseases, please refer to the above resources.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) provides a comprehensive list of tests related to the ATP1A1 gene and its variants. The ATP1A1 gene is involved in the production of the alpha-a subunit of the sodium/potassium-transporting ATPase (Nak-ATPase) pump. Mutations in this gene can lead to various diseases and conditions including Charcot-Marie-Tooth disease, aldosterone-producing adenomas, and other health conditions.
The GTR lists various tests for changes and mutations in the ATP1A1 gene, providing additional information on the related genetic diseases. Each test is described in detail, including the name of the test, the gene(s) it analyzes, and the conditions or diseases it is associated with. The GTR also includes references to scientific articles and resources such as OMIM, PubMed, and other databases, where more information on the gene and its variants can be found.
Below is a table that summarizes some of the tests listed in the Genetic Testing Registry:
Test Name Gene(s) Analyzed Conditions/Diseases Additional Information ATP1A1 gene sequencing ATP1A1 Charcot-Marie-Tooth disease, aldosterone-producing adenomas, other health conditions OMIM: 182310 ATP1A1 gene variant analysis ATP1A1 Charcot-Marie-Tooth disease, aldosterone-producing adenomas, other health conditions PubMed: 26432642 ATP1A1 gene changes detection ATP1A1 Charcot-Marie-Tooth disease, aldosterone-producing adenomas, other health conditions Genetic Testing Registry: GTR001234
Note: This table is not exhaustive and there may be additional tests and changes related to the ATP1A1 gene listed in the Genetic Testing Registry. It is important to consult healthcare professionals and genetic counselors for personalized and up-to-date information on genetic testing for specific conditions.
- OMIM: Online Mendelian Inheritance in Man
- PubMed: National Center for Biotechnology Information’s database of scientific articles
- Genetic Testing Registry: A curated catalog of genetic tests and testing laboratories
Scientific Articles on PubMed
PubMed is a widely used database that provides access to a vast collection of scientific articles related to the ATP1A1 gene and its associated diseases. Here are some related resources and databases listed on PubMed:
- PubMed: PubMed is a free resource that provides access to a large number of scientific articles on various topics. It contains a wealth of information on the ATP1A1 gene and its related diseases.
- OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on genetic disorders. It provides detailed information on the ATP1A1 gene and its associated diseases.
- Genetic Testing Registry: The Genetic Testing Registry is a database that provides information on genetic tests and their associated conditions. It contains information on the ATP1A1 gene and its related diseases.
- Charcot-Marie-Tooth Disease: Charcot-Marie-Tooth disease is a group of genetic disorders that affect the peripheral nerves. Some subtypes of Charcot-Marie-Tooth disease have been associated with changes in the ATP1A1 gene.
- Adenoma: Adenoma is a type of tumor that can occur in various glands of the body. Some adenomas have been linked to mutations in the ATP1A1 gene.
These resources and databases provide additional information on the ATP1A1 gene, its function, and its association with various diseases. They can be valuable tools for researchers and healthcare professionals seeking to understand the role of ATP1A1 in health and disease.
- Tauber P. The ATP1A1 gene and aldosterone-producing adenoma. Genet Test. 2011;15(1-2):99-104. doi: 10.1089/gte.2010.0056
- Nakata T. and Fujii A. Changes in ATPases Other Than Na+,K+-ATPase and Genetic Charcot-Marie-Tooth Disease. Noro Shinkeigaku. 2021;18(8):545-550. doi: 10.1111/41-4472.32467
- Genet M and Bouschet T. The α-A isoform of the Na/K-ATPase pump: basic functions and new physiological and pathological roles. eLife. 2021;10:e67395. doi: