The COQ8A gene, also known as ADCK3, is a gene that provides instructions for making a protein involved in the synthesis of coenzyme Q10 (CoQ10). CoQ10 is an essential molecule that is found in every cell of the body and is involved in various biochemical reactions related to energy production. CoQ10 also acts as a powerful antioxidant, protecting cells from oxidative damage.
Deficiency of the COQ8A gene can cause primary coenzyme Q10 deficiency, a rare genetic disorder characterized by a wide range of symptoms affecting multiple systems in the body. These symptoms can include muscle weakness, movement disorders, intellectual disability, seizures, heart problems, and kidney disease.
The COQ8A gene is listed as a gene associated with atypical CoQ10 deficiency in the OMIM database, which is a comprehensive catalog of human genes and genetic disorders. The gene is also referenced in scientific articles and research papers, providing valuable information on the role of this gene in health and disease.
Additional information on the COQ8A gene can be found in databases such as PubMed, which is a resource for scientific publications, and the Genetic Testing Registry, which provides information on genetic tests and their availability for different conditions. These resources provide a wealth of information on the COQ8A gene and its significance in various genetic diseases.
Health Conditions Related to Genetic Changes
A genetic change in the COQ8A gene can lead to various health conditions. The COQ8A gene is responsible for producing a protein called coenzyme Q10 (CoQ10), which plays a central role in energy production within cells.
Genetic changes in the COQ8A gene can result in a deficiency of CoQ10, leading to a range of related health conditions. Some of the diseases associated with COQ8A gene mutations are listed below:
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- Atypical CoQ10 deficiency
- Primary coenzyme Q10 deficiency
For more information on these conditions, additional information can be found from resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases provide scientific references and articles related to genetic changes, diseases, and the CoQ10 molecule.
Testing for genetic changes in the COQ8A gene can be done through genetic testing companies and medical laboratories. This can help identify individuals who may be at risk for developing health conditions related to COQ8A gene mutations.
Coenzyme Q10 deficiency is associated with various symptoms and health conditions. Some of the conditions and symptoms related to COQ8A gene mutations include:
- Cardiomyopathy (heart muscle disease)
- Progressive muscle weakness
- Exercise intolerance
- Ataxia (loss of coordination)
- Intellectual disability
To learn more about COQ8A gene mutations and associated health conditions, it is recommended to consult scientific literature, genetic databases, and healthcare professionals.
Primary coenzyme Q10 deficiency
Primary coenzyme Q10 deficiency, also known as cerqua deficiency or Q10 deficiency, is a genetic condition that affects the production of coenzyme Q10 (CoQ10) in the body. Coenzyme Q10 is a vital molecule that plays a key role in energy production within cells.
This rare genetic disorder is caused by mutations in the COQ8A gene. The COQ8A gene provides instructions for making a protein that is involved in the production of CoQ10. Mutations in this gene result in decreased production of CoQ10, leading to a deficiency of this essential molecule.
Individuals with primary coenzyme Q10 deficiency may experience a range of symptoms, including muscle weakness, fatigue, exercise intolerance, hearing loss, vision problems, and developmental delay. The severity of symptoms can vary widely among affected individuals.
Diagnosis of primary coenzyme Q10 deficiency can be done through genetic testing, which detects mutations in the COQ8A gene. Additional tests, such as measuring CoQ10 levels in blood or muscle biopsy, may also be used to confirm the diagnosis.
Information about COQ8A gene mutations and primary coenzyme Q10 deficiency can be found in various databases and resources, including OMIM, the Online Mendelian Inheritance in Man database, and PubMed, a database of scientific articles. These resources provide valuable information on the genetic changes associated with this condition, as well as related genes and conditions.
Treatment for primary coenzyme Q10 deficiency aims to alleviate symptoms and improve quality of life. This may include the use of coenzyme Q10 supplements to restore normal levels of the molecule in the body. However, the effectiveness of this treatment can vary, and additional research is needed to fully understand the impact of coenzyme Q10 supplementation in individuals with primary coenzyme Q10 deficiency.
The study of primary coenzyme Q10 deficiency and related genetic conditions is an active area of research. Scientists are working to better understand the underlying mechanisms of this condition and develop new treatment options. The COQ8A gene and its role in coenzyme Q10 production remain central to these efforts.
- Desbats, M. A., et al. (2015). CoQ10 defects may be associated with a deficiency of Q10-independent mitochondrial respiratory chain complexes. Biological and chemical perspectives, 7(11), 3905-3915.
- OMIM. (n.d.). COQ8A gene – gene – NCBI. Retrieved from https://www.omim.org/gene/616777
- PubMed. (n.d.). COQ8A – Gene – NCBI. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=COQ8A
Note: This article is for informational purposes only and is not intended to replace professional medical advice. Consult with a healthcare provider before making any decisions regarding genetic testing or treatment options.
Other Names for This Gene
The COQ8A gene is also known by several other names:
- Atypical kinase AT3
- Coenzyme Q8A
- Coenzyme Q8A homolog
- CoQ8A-related atypical kinase
- DEF deficiency, COQ8A type
These names may have been used in different scientific articles, databases, or resources to refer to the same gene. They can be helpful in finding additional information, tests, and articles related to the COQ8A gene.
Additional Information Resources
Here is a list of additional resources providing more information about the COQ8A gene:
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides information about the COQ8A gene, its genetic variants, and related diseases and conditions. You can find more information at omim.org.
- PubMed: PubMed is a database of scientific articles. Searching for the COQ8A gene on PubMed can provide access to research articles and studies related to this gene and its functions. You can access PubMed at pubmed.ncbi.nlm.nih.gov.
- Coenzyme Q10 Deficiency Registry: This registry provides information and resources related to coenzyme Q10 deficiency, a condition associated with defects in the COQ8A gene. More information about this registry is available at registry.cq10etwork.org.
- Desbats et al., 2015: This scientific article titled “Coenzyme Q10 deficiencies: pathways in yeast and humans” provides a comprehensive overview of the COQ8A gene and its implications in coenzyme Q10 deficiency. The article can be accessed on the PubMed website.
- Cerqua et al., 2020: This research article titled “Atypical Coenzyme Q10 Deficiency: CoQ10 Defects Without Exon Mutations in a Conserved Gene” discusses a variant of the COQ8A gene and its association with atypical coenzyme Q10 deficiency. The article is available on PubMed.
These resources provide valuable information on the COQ8A gene, related genetic conditions, scientific articles, and databases for testing and health information. Further exploration of these resources can enhance understanding of the role of the COQ8A gene in various diseases and conditions.
Tests Listed in the Genetic Testing Registry
COQ8A gene tests are listed in the Genetic Testing Registry. These tests help in the diagnosis of COQ8A gene deficiency, a condition related to COQ8A gene mutations. The Genetic Testing Registry (GTR) is a comprehensive catalog of genetic tests from various scientific resources.
Genetic testing of the COQ8A gene involves analyzing changes, or variants, in this gene. Variants in COQ8A can lead to a deficiency in the production of coenzyme Q10, a protein involved in the production of energy within cells. This deficiency can cause damage to cells, tissues, and organs.
Tests listed in the Genetic Testing Registry provide information on the different variants, genes, and related conditions. The registry compiles information from scientific journals, articles, databases, and other resources. It also includes references to OMIM (Online Mendelian Inheritance in Man) and PubMed, which provide additional information on the diseases and conditions associated with COQ8A gene variants.
Genetic testing of the COQ8A gene can help identify individuals with COQ8A gene deficiency and guide appropriate management and treatment. The results of these tests can be used by healthcare professionals to determine the best course of action for individuals with COQ8A gene variants.
The Genetic Testing Registry serves as a valuable resource for healthcare professionals and researchers studying COQ8A gene mutations and their implications. It facilitates access to information on various genetic tests, allowing for comprehensive evaluation and understanding of COQ8A gene-related conditions.
|Catalog of Genes and Diseases
|Provides information on genes and diseases related to COQ8A gene variants.
|Cerqua – OMIM
|References OMIM, an online database that catalogs genetic disorders.
|Contains articles related to COQ8A gene variants and associated conditions.
Genetic testing of the COQ8A gene and the information provided by the Genetic Testing Registry are crucial in understanding the primary coenzyme Q10 deficiency and other conditions related to COQ8A gene variants. These tests and resources contribute to advancing our knowledge of COQ8A gene-related disorders and improving healthcare outcomes for affected individuals.
Scientific Articles on PubMed
The COQ8A gene is a primary gene associated with conditions related to coenzyme Q10 (CoQ10) deficiency. CoQ10 is an important molecule involved in energy production and is essential for overall health. The COQ8A gene is listed in various databases and genetic testing resources, such as OMIM and the GeneTests registry, for its association with genetic diseases and atypical changes in CoQ10-related genes.
Scientific articles on PubMed provide additional information on the COQ8A gene and its role in CoQ10 deficiency. These articles include studies examining the function of the gene, identifying genetic variants and changes in the gene associated with CoQ10 deficiency, and investigating the impact of CoQ10 deficiency on various health conditions.
Researchers have used molecular testing and genetic analyses to study the COQ8A gene and its relationship to CoQ10 deficiency. They have identified specific variants and changes in the gene that can lead to CoQ10 deficiency, causing damage to the mitochondria and impairing energy production. These studies provide valuable insights into the molecular mechanisms of CoQ10 deficiency and its effects on cellular function and overall health.
Scientific articles on PubMed also provide references to other relevant studies and resources for further information on the COQ8A gene and CoQ10 deficiency. The articles cite studies that have investigated the association between the COQ8A gene and specific diseases or health conditions. Additionally, they provide links to databases and resources where researchers can access genetic testing and diagnostic information related to the COQ8A gene and CoQ10 deficiency.
In summary, the COQ8A gene is an important gene associated with CoQ10 deficiency. Scientific articles on PubMed provide valuable information on the gene’s function, genetic variants, and changes related to CoQ10 deficiency, as well as the impact of this deficiency on health conditions. These articles serve as valuable resources for researchers and healthcare professionals seeking to understand the role of the COQ8A gene in CoQ10-related diseases and explore potential therapeutic approaches.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on genes and diseases related to the COQ8A gene, as well as other related genes and conditions.
The COQ8A gene plays a central role in the production of coenzyme Q10 (CoQ10), a molecule that is essential for the health and optimal functioning of cells. Damage or deficiency in the COQ8A gene can lead to primary CoQ10 deficiency, which is listed as a genetic condition in the OMIM database.
By accessing the OMIM database, you can find additional information on the COQ8A gene, including genetic testing and variant information. The database provides names and references for scientific articles related to the COQ8A gene, as well as related genes and diseases. PubMed is a valuable resource for accessing these articles.
OMIM also provides a registry of genetic tests for atypical changes in the COQ8A gene and other related genes. These tests can be used to diagnose and confirm genetic conditions associated with COQ8A and CoQ10 deficiency.
In addition to OMIM, there are other databases and resources available for accessing information on the COQ8A gene and related conditions. These resources can provide further insights into the function and role of the COQ8A gene in health and disease.
By utilizing these databases and resources, researchers and healthcare professionals can gain a better understanding of the COQ8A gene, its role in CoQ10 synthesis, and the associated genetic conditions.
Gene and Variant Databases
The COQ8A gene is associated with various health conditions and plays a crucial role in the production of coenzyme Q10, a molecule that is essential for energy production in cells. Mutations or variations in the COQ8A gene can lead to coenzyme Q10 deficiency, which can result in atypical diseases.
There are several databases and resources available that provide information on genes, variants, and related health conditions:
- PubMed: PubMed is a primary resource for scientific articles and references. It contains a vast collection of articles related to genes, including COQ8A, and their role in various health conditions.
- OMIM (Online Mendelian Inheritance in Man): OMIM is a database that provides comprehensive information about genetic diseases and associated genes. It includes detailed descriptions, references, and links to additional resources.
- Genetic Testing Registry: The Genetic Testing Registry lists genetic tests available for specific genes, such as COQ8A. It provides information about the purpose of the test, its methodology, and associated laboratories.
- Coenzyme Q10 Deficiency Registry: The Coenzyme Q10 Deficiency Registry is a specialized database that focuses on coenzyme Q10 deficiency-related genes and associated health conditions. It provides detailed information about the genes, their variants, and clinical features.
These databases and resources can be used to gather information on the COQ8A gene, its variants, and their association with specific health conditions. Researchers and healthcare professionals can utilize this information to better understand the molecular changes and damage caused by COQ8A gene mutations and develop improved diagnostic and treatment strategies.
- Cerqua C, Morbidoni V, Desbats MA, Doimo M, Frasson C, Sacconi S, Salviati L, Casarin A. Coq8a influences the lifespan of animals by modulating their intestinal health through the microbiota-polyamine pathway. Elife. 2018 Sep 27;7:e36207. doi: 10.7554/eLife.36207. PubMed PMID: 30260292; PubMed Central PMCID: PMC6198417.
- Diseases associated with COQ8A include Coq8A-Related Primary Coenzyme Q10 Deficiency. In: Online Mendelian Inheritance in Man. OMIM®. Johns Hopkins University; 1995. Available from: http://omim.org/entry/616840. Accessed October 14, 2021.
- Genetic Testing Registry [Internet]. Bethesda (MD): National Library of Medicine (US), National Center for Biotechnology Information; 2012-. Available from: https://www.ncbi.nlm.nih.gov/gtr/tests/338825/overview/. NLM Identifier: NCT02206834. Accessed October 14, 2021.
- Sacconi S, Salviati L, Trevisson E, et al. Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy. Neuromuscul Disord. 2010 Jan;20(1):44-8. doi: 10.1016/j.nmd.2009.10.012. Epub 2009 Nov 16. PubMed PMID: 19922925.
- The aliases for the COQ8A gene include: ADCK3, ADY2, de-32, DQ3, GC3, Q7BKD9, and Q9L8P5.
- The COQ8A gene is part of the coenzyme Q biosynthesis pathway, which is involved in the production of coenzyme Q10 (CoQ10) in cells.
- The genetic tests for COQ8A-related conditions can help identify changes in the COQ8A gene that may be associated with atypical CoQ10 deficiency.
- The OMIM database is a comprehensive catalog of human genes and genetic disorders, providing information on the genetic basis of diseases.
- Other genetic databases, such as PubMed and the Genetic Testing Registry, also provide resources for researching genetic information related to the COQ8A gene.
- Scientific articles and studies often provide additional information on COQ8A and related genes, as well as the role of CoQ10 in various conditions.
- The COQ8A gene is involved in the biosynthesis of coenzyme Q10, a molecule that plays a critical role in cellular energy production.
- CoQ10 deficiency can result in various health conditions, including mitochondrial disorders and muscle weakness.