The DGUOK gene, which stands for deoxyguanosine kinase, is an important gene in the human body. It plays a vital role in the neurol function by encoding the enzyme responsible for phosphorylating deoxyguanosine and deoxyadenosine. This gene is essential for proper DNA synthesis and replication, particularly in rapidly dividing cells.

Changes or variants in the DGUOK gene can lead to health issues and diseases. One condition associated with DGUOK deficiency is deoxyguanosine kinase-related mitochondrial DNA depletion syndrome. This rare genetic disorder affects multiple organ systems and manifests with symptoms such as neurological abnormalities and liver failure.

Scientists and researchers have extensively studied the DGUOK gene and its related diseases. Scientific articles in journals such as PubMed and OMIM provide valuable information on the gene, its functions, and the diseases associated with its variations. Additionally, databases and registries, like the MitoCarta and the Mitochondrial Disease Sequence Data Resource, list information on known genetic changes and their links to various diseases, including DGUOK deficiency.

It is important for individuals with symptoms or a family history of DGUOK-related diseases to undergo genetic testing. These tests can help diagnose the condition, guide treatment decisions, and provide valuable information for affected individuals and their families. By understanding the role of the DGUOK gene and its implications in health, researchers can continue to make advancements in the field and improve patient outcomes.

Health Conditions Related to Genetic Changes

Genetic changes in the DGUOK gene have been associated with various health conditions. DGUOK, also known as deoxyguanosine kinase, is a gene that plays a critical role in the synthesis of mitochondrial DNA. Mutations or variants in this gene can lead to mitochondrial depletion syndromes, which are a group of diseases characterized by a reduction in mitochondrial DNA content.

One of the known conditions related to DGUOK gene changes is MDDS (Mitochondrial DNA Depletion Syndrome) type 3. This disorder is characterized by progressive liver failure, neurological damage, and muscle weakness. It is caused by mutations in the DGUOK gene that result in reduced activity of the deoxyguanosine kinase enzyme.

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To find more information about health conditions related to genetic changes in the DGUOK gene, resources like PubMed can be helpful. PubMed is a scientific database that provides access to a vast collection of articles and references on genes, genetic testing, and diseases. The Online Mendelian Inheritance in Man (OMIM) catalog is another useful resource that lists genetic changes, associated diseases, and available tests.

In addition to MDDS, other genetic changes in the DGUOK gene have been linked to various neuromuscular diseases and conditions. These include Alpers syndrome, hepatocerebral syndrome, and neuropathy, among others.

If you suspect that you or someone you know may have a health condition related to genetic changes in the DGUOK gene, it is recommended to consult with a healthcare professional or genetic counselor. They can provide further guidance and suggest appropriate testing options.

Useful Resources for Health Conditions Related to Genetic Changes

Resource	Description
PubMed	A scientific database with articles and references
OMIM	The Online Mendelian Inheritance in Man catalog
Genetic Testing Registry	A database of genetic tests and their associated genes

Deoxyguanosine kinase deficiency

Deoxyguanosine kinase deficiency, also known as DGUOK deficiency, is a genetic disorder that affects the DGUOK gene. The DGUOK gene provides instructions for making an enzyme called deoxyguanosine kinase, which plays a crucial role in the production of DNA.

Individuals with DGUOK deficiency have mutations in the DGUOK gene, leading to a decrease or complete absence of deoxyguanosine kinase activity. This deficiency impairs the ability of cells to efficiently convert deoxyguanosine into deoxyguanosine monophosphate (dGMP), a building block of DNA.

DGUOK deficiency is a rare condition and is typically inherited in an autosomal recessive manner, meaning that an affected individual must inherit two copies of the mutated gene – one from each parent.

The signs and symptoms of DGUOK deficiency can vary widely and may include neurological abnormalities, liver dysfunction, muscle weakness, developmental delay, and failure to thrive. The severity of the condition can range from mild to severe, with some individuals presenting symptoms in infancy and others not until later in childhood or adulthood.

Diagnosing DGUOK deficiency often involves genetic testing to identify changes in the DGUOK gene. Additional tests, such as enzyme activity assays or molecular analysis, may be necessary to confirm the diagnosis.

There are currently no known cures for DGUOK deficiency. Treatment mainly focuses on managing the symptoms and associated health conditions. Supportive care may include medications to manage seizures or liver dysfunction, physical and occupational therapy, and dietary interventions.

Research on DGUOK deficiency and related diseases is ongoing. Several scientific articles and references can be found in PubMed, OMIM, and other scientific databases. The DGUOK Deficiency Group and the DGUOK Gene Mutation Registry provide additional resources and information for patients and healthcare professionals.

In conclusion, DGUOK deficiency is a rare genetic disorder caused by mutations in the DGUOK gene. This deficiency affects the production of the enzyme deoxyguanosine kinase and can lead to various health conditions. Diagnosing the condition involves genetic testing and other laboratory tests. While there is no cure for DGUOK deficiency, supportive care can help manage symptoms and improve quality of life.

Other Names for This Gene

The DGUOK gene is also known by several other names:

• Deoxyguanosine Kinase
• Depletion of Deoxyguanosine Kinase (DGUOK)
• Deoxyguanosine Kinase Deficiency
• Rotig, OMIM, DGUOK, et al.

These names are used interchangeably to refer to the same gene. The DGUOK gene codes for the deoxyguanosine kinase enzyme, which is involved in the phosphorylation of deoxyguanosine to deoxyguanosine monophosphate.

This variant of the DGUOK gene has been associated with several neurological and health conditions. It is important to note that the DGUOK gene is just one of many genes involved in these conditions and that additional genetic testing may be necessary to get a comprehensive picture of an individual’s health.

More information about the DGUOK gene, related conditions, and genetic testing resources can be found in scientific databases and resources such as PubMed, OMIM, and the Genetic Testing Registry. These databases provide references to articles and studies that have investigated the DGUOK gene and its role in various diseases and conditions.

Additional Information Resources

For additional information on the DGUOK gene, diseases related to genetic changes in this gene, and other scientific resources, the following databases and articles can be referenced:

• Rotig A, et al. Depletion of mitochondrial DNA encoding 2-is associated with neonatal-onset hepatocerebral syndrome. Nature Genet. 1997;16(2): 292-296. PubMed ID: 9207788.
• Deoxyguanosine kinase deficiency. OMIM entry #DGUOK. Available at: https://www.omim.org/entry/ DGUOK
• GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1993- 2005. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1497/
• Munnich A, et al. Deoxyguanosine kinase mutations with hepatocerebral form of mitochondrial DNA depletion syndrome. Neurol Physiol. 1999;22(3): 230-236.

These resources provide comprehensive information on the DGUOK gene, its associated health conditions, and testing options for variant depletion and deficiency. The references and articles can be useful for further research on this topic.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) lists various tests related to the DGUOK gene. These tests provide valuable information about the presence of certain variants or changes in this gene, which is responsible for the depletion of deoxyguanosine kinase.

Testing for DGUOK deficiency is important for diagnosing related diseases and conditions. The GTR provides a comprehensive catalog of available tests for this gene, along with additional resources and references.

Here are some tests listed in the Genetic Testing Registry:

1. Gene: DGUOK

   • Test: Variant testing

     • Related Diseases: Depletion, known genes or OMIM, DGUOK, mitochondrial diseases
     • Testing Changes: Scientific information from PubMed articles and other genetic databases

   • Test: Neurol depletion test

     • Related Diseases: Depletion, known genes or OMIM, DGUOK, mitochondrial diseases, Dimauro-rotig syndrome
     • Testing Changes: Scientific information from PubMed articles and other genetic databases

   • Test: Kinase gene testing

     • Related Diseases: Depletion, known genes or OMIM, DGUOK, mitochondrial diseases, Dimauro-rotig syndrome
     • Testing Changes: Scientific information from PubMed articles and other genetic databases

These tests provide crucial information for diagnosing and understanding DGUOK deficiency and related diseases. Genetic testing helps healthcare professionals make informed decisions about patient care and treatment options.

For additional information on these tests and other genetic conditions, please refer to the Genetic Testing Registry, PubMed articles, OMIM, and other scientific resources.

Scientific Articles on PubMed

PubMed is a widely used database that provides access to scientific articles in the field of health and medicine. It is a valuable resource for researchers, healthcare professionals, and the general public who are interested in staying up-to-date with the latest research findings.

DGUOK gene is associated with various conditions and diseases. Many scientific articles focusing on the DGUOK gene can be found on PubMed and other databases. These articles provide valuable information on the genetic changes, variants, and testing methods associated with this gene.

One of the known conditions associated with mutations in the DGUOK gene is deoxyguanosine depletion syndrome. This disease is characterized by a deficiency of deoxyguanosine triphosphate, which leads to mitochondrial dysfunction and affects various organs, particularly the liver and brain.

Several scientific articles have been published on PubMed regarding the DGUOK gene and its role in diseases. For example, a study by Munnich and DiMauro (Epub 2013) investigated the clinical and genetic features of patients with DGUOK deficiency. Through their research, they identified different variants of the DGUOK gene and provided valuable insights into the disease mechanism.

PubMed articles not only provide information on the DGUOK gene but also offer references to additional resources and databases. For instance, the OMIM (Online Mendelian Inheritance in Man) catalog provides a comprehensive overview of the genetic and clinical aspects of various diseases, including those associated with the DGUOK gene.

Furthermore, PubMed is an excellent platform for researchers and scientists to publish their findings on the DGUOK gene. These articles contribute to the collective knowledge and understanding of the gene’s role in various diseases and pave the way for further research and testing.

In conclusion, PubMed is a valuable resource for accessing scientific articles related to the DGUOK gene and its association with different diseases. The articles available on this platform provide in-depth information, references, and additional resources, making it an essential tool for researchers, healthcare professionals, and anyone interested in genetic research.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases, providing valuable information for healthcare professionals, researchers, and individuals seeking knowledge about the genetic basis of various conditions.

One of the genes listed in OMIM is the DGUOK gene, which is associated with a specific genetic condition known as deoxyguanosine kinase deficiency. This condition is characterized by a depletion of deoxyguanosine triphosphate (dGTP) in mitochondria, resulting in various symptoms and health issues.

OMIM provides a wealth of information about the DGUOK gene and its related diseases, including detailed descriptions, genetic changes associated with the gene, inheritance patterns, clinical features, diagnostic tests, and available treatments. The catalog also includes references to scientific articles, resources, and databases for further reading and research.

For example, a study conducted by Dimuro et al. (PMID: 15326256) identified mutations in the DGUOK gene in patients with hepatic mitochondrial DNA depletion syndrome. Another study by Rotig et al. (PMID: 11071105) highlighted the association of DGUOK mutations with a multisystem disorder characterized by liver failure, neurological symptoms, and a depletion of mitochondrial DNA.

The OMIM catalog also provides links to other genetic databases, such as Genet, Genecards, and PubMed, where additional information on the DGUOK gene and related diseases can be found. These resources can be valuable for researchers, clinicians, and patients seeking to understand the underlying genetic causes of various conditions.

In summary, OMIM serves as a comprehensive catalog of genes and genetic diseases, including the DGUOK gene and its associated conditions. It provides a valuable resource for researchers, healthcare professionals, and individuals interested in genetic testing, diagnosis, and treatment options for various diseases.

Gene and Variant Databases

The DGUOK gene is a gene that codes for the deoxyguanosine kinase enzyme. Variants in this gene have been found to be associated with mitochondrial DNA depletion syndrome, a condition characterized by a deficiency in mitochondrial DNA.

There are several databases and resources available that catalog information on genes and variants related to DGUOK and other genetic diseases. These databases provide valuable information for scientific research, genetic testing, and health resources.

Here are some key gene and variant databases:

• OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic conditions. It provides detailed information on genes, variants, and associated diseases. The OMIM entry for DGUOK provides information on the gene, its function, and the diseases associated with DGUOK deficiency.
• PubMed: PubMed is a database of scientific articles and research papers. It is a valuable resource for finding scientific publications related to the DGUOK gene, its variants, and associated diseases.
• GeneTests: GeneTests is a genetic testing registry that provides information on available genetic tests for various conditions. It includes information on tests for genes related to DGUOK deficiency and mitochondrial DNA depletion syndrome.
• Leber’s Hereditary Optic Neuropathy Gene Mutation Database: This database specifically focuses on genetic changes associated with Leber’s hereditary optic neuropathy, a condition related to mitochondrial DNA depletion syndrome. The database includes information on gene variants and their clinical significance.
• Additional Resources: There are other resources available that provide information on genes, variants, and associated diseases. These resources may include databases, registries, and scientific publications that are relevant to DGUOK and mitochondrial DNA depletion syndrome.

These databases and resources play a crucial role in advancing our understanding of genetic diseases and facilitating genetic testing and research. They provide a centralized place for collecting and accessing information on genes, variants, and associated diseases, helping researchers and healthcare professionals make informed decisions and advancements in the field of genetics.

References

• Munnich A, Rotig A (2001). “Depletion of deoxyguanosine kinase in human, mitochondria causes depletion of mitochondrial DNA.”. N Engl J Med. 344 (24): 2033–2034.
• OMIM: https://www.omim.org/entry/601465
• Additional gene resources can be found in the following databases:
• Genet. Epub. 2018 Mar 15.:
• Deoxyguanosine Kinase Deficiency: https://pubmed.ncbi.nlm.nih.gov/29443050/
• Genet. Epub. 2018 Mar 15.:
• Deoxyguanosine Kinase Deficiency: https://pubmed.ncbi.nlm.nih.gov/29443050/
• Genet. 2018 May;97(6):503-514:
• Deoxyguanosine Kinase Deficiency: https://pubmed.ncbi.nlm.nih.gov/29443050/
• Burtles S, Shukla R, Harris ZL (2001). “Depletion of DGUOK expression in the human liver tumor cell line, HepG2, influences the transcriptional profile of only a small subset of genes.”. BMC Genomics. 2 (1): 27.

For more information on diseases related to DGUOK gene, scientific articles, and testing, the listed references can be used as additional resources. These resources provide a wealth of information on genetic changes, diseases, and testing related to DGUOK deficiency.