COQ2 gene – Austra Health

The COQ2 gene is located on chromosome 4 and is associated with multiple-system primary CoQ10 deficiency. Coenzyme Q10 (CoQ10) is an important coenzyme involved in the production of energy in cells. Deficiency of this coenzyme can lead to a variety of health conditions and diseases.

Multiple genetic changes in the COQ2 gene have been found to be associated with this deficiency. These changes can affect the production of CoQ10 and result in vulnerability to damage in multiple organ systems, including the central nervous system and the autonomic nervous system.

Scientific articles related to the COQ2 gene and its associated conditions can be found in various databases such as OMIM, PubMed, and the Genetic Testing Registry. Additional resources on the COQ2 gene and related conditions can be found on the websites of the Seattle ORDrOmics and the Cerqua Consortium, which provide comprehensive information and testing resources for genetic conditions.

Testing for COQ2 gene variants and CoQ10 deficiency can be done through genetic tests and other diagnostic tests. These tests can help in identifying individuals with primary CoQ10 deficiency and guide appropriate management and treatment strategies.

In conclusion, the COQ2 gene is an important gene involved in the production of CoQ10, and its deficiency is associated with multiple-system primary CoQ10 deficiency. Further research is needed to understand the precise mechanisms by which changes in the COQ2 gene lead to health conditions and diseases.

Health Conditions Related to Genetic Changes

Genetic changes in the COQ2 gene can lead to various health conditions. The COQ2 gene is responsible for the production of an enzyme called coenzyme Q10 (CoQ10). CoQ10 plays a crucial role in the energy production of cells and is involved in many important biological processes.

Changes in the COQ2 gene can result in coenzyme Q10 deficiency, which is associated with multiple-system atrophy, cardiac failure, cerebellar ataxia, cerebellar atrophy, and other health conditions. Some health conditions associated with COQ2 gene changes are listed in the COQ2 gene variant registry.

Testing for COQ2 gene changes can be done through genetic testing and sequencing. Several databases and scientific resources, such as PubMed and OMIM, provide information on these genetic changes and associated health conditions.

It is important to note that genetic changes in the COQ2 gene can have varying impacts on an individual’s health. Some individuals may be more vulnerable to certain health conditions associated with COQ2 gene changes, while others may not experience any symptoms.

Research articles and studies have explored the relationship between COQ2 gene changes and health conditions. These studies have provided insights into the genetic basis of diseases and the role of COQ2 gene in various biological processes.

Health conditions related to genetic changes in the COQ2 gene can affect different systems of the body, including the central nervous system, autonomic system, and cardiovascular system. These conditions can cause damage and impair the normal function of these systems.

Additional resources, such as the CoQ Research Registry in Seattle, provide further information on COQ2 gene changes and related health conditions. These resources can be helpful for individuals and healthcare professionals seeking more information on the genetic basis of these conditions and available diagnostic tests.

In conclusion, genetic changes in the COQ2 gene are associated with various health conditions, primarily due to coenzyme Q10 deficiency. Understanding these genetic changes and their impact on health can aid in the diagnosis, management, and treatment of individuals with COQ2 gene-related diseases.

Multiple system atrophy

Multiple system atrophy (MSA) is a rare neurological disorder characterized by a combination of Parkinson’s disease-like symptoms and autonomic dysfunction. It is also known as multiple-system atrophy or MSA.

MSA is associated with genetic changes in the COQ2 gene which is responsible for the production of coenzyme Q10 (CoQ10). CoQ10 is an important molecule involved in energy production in the cells.

Studies have found that mutations in the COQ2 gene result in a deficiency of CoQ10, leading to damage and vulnerability of the central nervous system. This can result in the development of multiple system atrophy and related diseases.

The genetic variant of the COQ2 gene associated with multiple system atrophy is listed in the OMIM database and additional information can be found through scientific articles on PubMed. The COQ2 gene is also included in genetic testing panels for multiple-system atrophy.

Testing for COQ2 gene changes can be useful in the diagnosis of multiple-system atrophy and for identifying individuals at risk for the condition. Other genes associated with related conditions and autonomic dysfunction can also be tested.

Further information on multiple-system atrophy and related conditions can be found in the scientific literature and databases such as OMIM and PubMed. References to these resources are listed in the article.

In summary, multiple system atrophy is a rare neurological disorder associated with changes in the COQ2 gene. Deficiency of coenzyme Q10 plays a role in the development of this condition. Genetic testing for COQ2 gene changes can aid in diagnosis and risk assessment.

Primary coenzyme Q10 deficiency

Primary coenzyme Q10 deficiency is a genetic condition that affects the production of coenzyme Q10 (CoQ10) in the body. CoQ10 is essential for the normal functioning of cells and plays a key role in energy production.

Patients with primary coenzyme Q10 deficiency may experience a wide range of symptoms that can affect multiple systems of the body, including the central nervous system, autonomic system, and multiple organs. These symptoms can include muscle weakness, atrophy, and changes in the autonomic nervous system. The severity and specific symptoms can vary widely among individuals with this condition.

The primary cause of primary coenzyme Q10 deficiency is mutations in the COQ2 gene. The COQ2 gene provides instructions for making an enzyme called para-hydroxybenzoate-polyprenyl transferase, which is involved in the production of CoQ10. When the COQ2 gene is mutated, the enzyme is not produced correctly, leading to a deficiency of CoQ10.

Diagnosis of primary coenzyme Q10 deficiency can be confirmed through genetic testing for mutations in the COQ2 gene. Additional diagnostic tests may include measurement of CoQ10 levels in the blood or urine, as well as tests to assess mitochondrial function and oxidative stress.

Multiple databases and resources, such as PubMed, OMIM, and the Seattle CoQ10 Genetic Testing Registry, provide scientific articles, genetic information, and other health-related resources on primary coenzyme Q10 deficiency. These sources can be used to find additional information on the condition, related genes, and associated diseases.

Other Names for This Gene

The COQ2 gene is also known by the following names:

4-hydroxybenzoate polyprenyltransferase
COQ2 homolog, prenyltransferase (yeast)
COQ2, benzoquinone biosynthesis protein homolog
Homo sapiens coenzyme Q2 homolog (S. cerevisiae)
p-Hydroxybenzoate–polyprenyltransferase

These names are used to refer to the same gene in different scientific articles and databases, and they provide additional information about the function and related conditions of this gene.

References:

Desbats MA, et al. Coenzyme Q10 deficiencies: pathways in yeast and humans. Essays Biochem. 2018;62(3):361-376. doi: 10.1042/EBC20170103. PMID: 30021771.
Navas P, et al. Coenzyme Q biosynthesis and its role in the respiratory chain structure. Biochim Biophys Acta. 2016;1857(8):1073-1078. doi: 10.1016/j.bbabio.2016.03.018. PMID: 27016262.
Cerqua C, et al. The Coq4 polypeptide organizes coenzyme Q10 biosynthesis complexes in yeast. J Biol Chem. 2009;284(7):35734-35745. doi: 10.1074/jbc.M109.036301. PMID: 19049981.

For more information on the COQ2 gene, related diseases, genetic testing, and associated conditions, you can refer to the following resources:

OMIM (Online Mendelian Inheritance in Man) database: COQ2 Gene
The Genetic and Rare Diseases Information Center (GARD) database: COQ2 Gene
The Human Gene Mutation Database (HGMD): COQ2 Gene
Scientific articles on COQ2 gene and coenzyme Q10 deficiencies from PubMed

These resources provide comprehensive and up-to-date information on the COQ2 gene, its variants, and its role in coenzyme Q10 production and related diseases. They can be used as references for scientific research and for genetic testing purposes.

Primary	Secondary
Tests	Changes
COQ2 gene	Cerqua et al.
Tests	Salviati et al.
Coenzyme Q10 deficiency	Desbats et al.
Multiple-system atrophy	Parkinsonism

These are the primary and secondary tests, changes, and conditions associated with the COQ2 gene, as described in the referenced articles. For more detailed information on specific tests and changes, it is recommended to consult the original articles and additional scientific resources.

Additional Information Resources

Here is a list of resources that provide additional information on the COQ2 gene and related topics:

OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic conditions and associated genes. The entry for COQ2 can be found at OMIM COQ2.
PubMed: PubMed is a database of scientific articles and publications. Searching for “COQ2 gene” or related keywords will provide you with a list of scientific articles on the topic. You can access PubMed at PubMed.
Genetic Testing Registry: The Genetic Testing Registry (GTR) provides information on genetic tests available for various conditions. You can find information on genetic tests for COQ2 gene variants and related conditions at GTR.

Here are some articles and scientific references related to the COQ2 gene:

Desbats, M. A., et al. “Coenzyme Q10 deficiencies: pathways in yeast and humans.” Essays in Biochemistry, vol. 62, no. 3, 2018, pp. 361-376. [link]
Cerqua, C., et al. “Coenzyme Q10 defects in neuromuscular diseases.” Frontiers in Physiology, vol. 8, 2017, p. 44. [link]
Salviati, L., et al. “Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency.” Journal of Medical Genetics, vol. 49, no. 3, 2012, pp. 187-191. [link]

Additional resources for COQ2 gene:
Resource	Description
Genetics Home Reference	A resource provided by the National Library of Medicine that provides information on genetic conditions and associated genes. You can access it at Genetics Home Reference COQ2.
Orphanet	A reference portal for rare diseases and orphan drugs, including information on COQ2 gene-related conditions. You can visit it at Orphanet COQ2.

These resources can provide you with further information on the COQ2 gene, related diseases, genetic testing, and other relevant topics.

Tests Listed in the Genetic Testing Registry

The COQ2 gene functions in the production of coenzyme Q10, which is essential for the health and proper functioning of various systems in the body. Mutations in the COQ2 gene have been found to be associated with multiple diseases and conditions.

Genetic tests for COQ2 variants can provide valuable information about the risk and vulnerability to genetic deficiencies and associated health conditions. These tests can detect changes in the COQ2 gene and help in the diagnosis of various related diseases, such as multiple-system atrophy, autonomic nervous system damage, and other primary diseases.

Tests listed in the Genetic Testing Registry (GTR) catalog, from resources such as OMIM, PubMed, and other scientific articles, provide additional information and references related to COQ2 gene testing. The GTR is a central database that lists various genetic tests along with detailed scientific information.

Some of the tests listed in the GTR for the COQ2 gene include:

COQ2-related Multiple-System Atrophy and Autonomic Dysfunction: This test examines the COQ2 gene for variants associated with multiple-system atrophy and autonomic dysfunction. It can help in the diagnosis and management of these conditions, providing crucial information for treatment options.
COQ2-associated Primary Coenzyme Q10 Deficiency: This test detects variants in the COQ2 gene that are linked to primary coenzyme Q10 deficiency. It assists in identifying individuals at risk and helps in the development of appropriate interventions and therapies.
COQ2-related Disorders: This test analyzes the COQ2 gene for variants associated with various disorders, including central nervous system atrophy and autonomic dysfunction. It provides insight into genetic vulnerabilities and aids in the diagnosis and management of related conditions.

Testing for COQ2 variants can be performed through various databases and resources, including laboratories and clinics listed in the GTR. Genetic counselors and healthcare professionals can provide guidance and support throughout the testing process, helping individuals and families make informed decisions regarding their health and genetic conditions.

References:

Desbats MA, Salviati L, Cerqua C, et al. CoQ10 supplementation in primary CoQ10 deficiency disorders: impact on QoL and exercise tolerance. Pract Neurol. 2015 Apr;15(2):117-23. PubMed PMID: 25249154.
Navas P, de Miguel M, Tresguerres JA, et al. Coenzyme Q10 deficiency in myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is related to fatigue, autonomic and neurocognitive symptoms and is another risk factor explaining the early mortality in ME/CFS due to cardiovascular disorder. Int J Mol Sci. 2020 Dec 23;22(1):E207. PubMed PMID: 33374790.
Genet Med. 2019 Jan;21(1):221-230. doi: 10.1038/s41436-018-0009-7. Epub 2018 Jul 24. Multiple-System Atrophy 2018: A Continuing Story.
Cerqua C, Morbidoni V, Desbats MA, et al. Primary CoQ10 deficiencies: rationale for diagnosis and therapy with CoQ10. Expert Rev Mol Diagn. 2016 Nov;16(11):1203-1221. PubMed PMID: 27662483.

Scientific Articles on PubMed

Throughout the scientific articles available on PubMed, there is a wealth of information on the COQ2 gene and its associated functions, as well as the diseases and conditions related to its deficiency.

COQ2, also known as 4-hydroxybenzoate polyprenyltransferase, is a gene involved in the production of coenzyme Q10 (CoQ10), a vital molecule for cellular energy production. Its primary role is in the biosynthesis of CoQ10, a crucial component of the electron transport chain.

When the COQ2 gene is damaged or altered, it can lead to multiple-system atrophy, an autonomic nervous system disorder characterized by the degeneration and atrophy of multiple systems. This vulnerability to neurodegeneration is associated with changes in CoQ10 production and function.

Scientific articles in PubMed provide additional references and information on COQ2-related conditions and testing methods. The catalog of publications includes studies on the genetic variation of the COQ2 gene, tests for CoQ10 deficiency, and the impact of CoQ10 on overall health.

Researchers, such as those from the University of Washington in Seattle and the Scientific Institute for Research, Hospitalization, and Health Care (IRCCS) Stella Maris Foundation, have conducted studies to explore the association between COQ2 genetic variations and various diseases and conditions.

Furthermore, PubMed provides information on related genes such as Q10 and the CoQ10 biosynthesis pathway. These genes and their associated functions are listed in various databases, including OMIM and the Genetic Testing Registry.

In conclusion, PubMed offers a valuable resource for researchers and clinicians seeking scientific articles on the COQ2 gene, its functions, associated diseases, and testing methods. This comprehensive database of articles provides essential information for studying the role of COQ2 in health and disease.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on various genes and diseases. It serves as a valuable tool for researchers, clinicians, and individuals interested in genetic conditions.

OMIM, or Online Mendelian Inheritance in Man, is a catalog of human genes and genetic disorders. It is maintained by the Johns Hopkins University School of Medicine and is widely used by the scientific community.

The COQ2 gene is listed in the OMIM catalog and is associated with multiple system atrophy. This gene plays a role in the production of coenzyme Q10, which functions in the energy production of cells.

Multiple genetic changes in the COQ2 gene have been found to be associated with primary coenzyme Q10 deficiency, a condition characterized by health problems affecting different systems of the body. Some of the conditions associated with COQ2 gene variant include autonomic dysfunction, neurologic abnormalities, and muscle weakness.

Testing for COQ2 gene variants can be done to determine an individual’s vulnerability to certain health conditions. This testing can be useful for diagnosing primary coenzyme Q10 deficiency and guiding appropriate treatment strategies.

Additional information on the COQ2 gene and its related conditions can be found on OMIM. The catalog provides references to articles and scientific publications, including those from PubMed, for further reading and research.

The OMIM catalog also lists other genes and diseases, providing a comprehensive overview of genetic conditions. It serves as a centralized source of information for researchers and clinicians, facilitating the study and understanding of genetic disorders.

In conclusion, the Catalog of Genes and Diseases from OMIM is a valuable resource for accessing information on genes, genetic conditions, and related research. It serves as an important tool in the field of genetics and provides a wealth of information for scientific exploration and medical advancements.

Gene and Variant Databases

Genetic databases are valuable resources for researchers and clinicians looking for information about genes and their associated variants. These databases provide a central repository of information related to genes and genetic changes found in various conditions.

One well-known database for genetic information is OMIM (Online Mendelian Inheritance in Man), which catalogs genes and associated genetic conditions. OMIM lists information about the COQ2 gene and its related conditions, including multiple-system atrophy and autonomic neuropathy. It also provides references to scientific articles and other resources for further reading.

Another important database is PubMed, a comprehensive collection of scientific articles from various disciplines. PubMed includes articles related to the COQ2 gene and its functions, as well as studies on the genetic changes associated with COQ2 deficiency. Researchers can use PubMed to access primary research articles and stay up to date with the latest scientific knowledge.

The Seattle Genetics Variant Annotation and Registry (SeattleVAR) is a database specifically dedicated to gene variants and their clinical significance. They have listed several COQ2 variants associated with diseases like CoQ10 deficiency and multiple-system atrophy. SeattleVAR provides additional information on the clinical impact and frequency of these variants, helping clinicians make informed decisions during genetic testing.

The GeneTests website, managed by the University of Washington, is another valuable resource for genetic testing information. It provides a list of laboratories that offer testing for COQ2-related conditions, as well as information on the specific tests available. GeneTests also includes a directory of genetic counselors who can provide guidance to individuals and families dealing with genetic conditions.

In addition to these databases, there are other resources available for researchers and clinicians interested in the COQ2 gene. These include the Q10 registry, which collects information on individuals with CoQ10 deficiencies, and the Genetic and Rare Diseases Information Center (GARD), which provides resources and information on rare genetic diseases.

Overall, gene and variant databases play a crucial role in advancing our understanding of the COQ2 gene and its associated conditions. They provide a wealth of information on genetic changes, disease associations, and clinical testing options, helping researchers and clinicians improve patient care and ultimately enhance human health.

References

Desbats MA, Salviati L, Sacconi S, et al. Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency. J Med Genet. 2015;52(11):828-833. doi:10.1136/jmedgenet-2015-103421
Cerqua C, Genin EC, Navas P. Coenzyme Q10 defects in inherited human disorders. BioFactors. 2011;37(5):374-383. doi:10.1002/biof.191
Seattle Children’s coenzyme Q10 deficiency registry. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK3792/
Additional references can be found in the listed articles in PubMed and other scientific databases.