The DBH gene, also known as the Dopamine Beta-Hydroxylase gene, is a genetic variant associated with various health conditions and disorders. This gene plays a crucial role in the production of the enzyme dopamine beta-hydroxylase, which is responsible for converting dopamine into norepinephrine.

Scientists have discovered that changes in the DBH gene can lead to alterations in the enzyme’s activity, resulting in an increased risk of developing certain diseases and conditions. Researches have found a correlation between different genetic variants of the DBH gene and conditions such as cardiovascular diseases, psychiatric disorders, and neuropsychiatric diseases.

There are several resources available for individuals to learn more about the DBH gene and its related disorders. The OMIM database provides comprehensive information on the genetic changes associated with the DBH gene, along with the names and descriptions of the related diseases. Additionally, PubMed, a registry of scientific articles, databases, and references, lists numerous articles and studies on testing, risk assessment, and genetic variants of the DBH gene.

For individuals interested in genetic testing and counseling, the DBH gene is an essential genetic marker to consider. Genetic testing can help identify any changes or variants in the DBH gene, providing valuable information for personalized risk assessment and management of related disorders. Healthcare professionals and genetic counselors can provide additional resources and support for individuals seeking further information about the DBH gene and its impact on their health.

Genetic changes in the DBH gene can lead to various health conditions and disorders. The DBH gene encodes the enzyme dopamine beta-hydroxylase (DBH), which is involved in the conversion of dopamine to norepinephrine. Genetic variants in this gene can result in DBH deficiency, affecting the production and regulation of norepinephrine.

The catalog of genetic variants and related health conditions associated with the DBH gene can be found in databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. Additional resources and articles related to genetic changes in this gene and the associated health conditions can also be found in these databases.

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Some of the health conditions and disorders linked to genetic changes in the DBH gene include:

  • DBH deficiency: Genetic variants in the DBH gene can lead to a deficiency in the production of dopamine beta-hydroxylase, resulting in low levels of norepinephrine.
  • Autonomic disorders: The dysregulation of norepinephrine due to DBH deficiency can contribute to autonomic disorders such as orthostatic hypotension, postural tachycardia syndrome, and neurogenic orthostatic hypotension.
  • Neurological disorders: Some studies have suggested that genetic changes in the DBH gene may be associated with an increased risk of neurodegenerative disorders like Parkinson’s disease, although further research is needed to fully understand this relationship.

It is important to note that the information provided here is a summary of the current scientific knowledge on the topic. Genetic testing and consultation with a healthcare professional are necessary for a comprehensive evaluation of genetic changes in the DBH gene and their potential implications for individual health. The names of specific health conditions and disorders may vary, and the listed references should be consulted for more detailed information.

See also  Myhre syndrome

Dopamine beta-hydroxylase deficiency

Dopamine beta-hydroxylase deficiency is a rare genetic disorder that affects the production of the enzyme dopamine beta-hydroxylase. This enzyme is responsible for converting dopamine to norepinephrine in the brain and other tissues.

Individuals with dopamine beta-hydroxylase deficiency have low levels of norepinephrine and high levels of dopamine, leading to a range of symptoms and health problems. This condition is also known as dopamine beta-monooxygenase deficiency.

The DBH gene provides instructions for making the dopamine beta-hydroxylase enzyme. Mutations in the DBH gene can cause a complete deficiency of the enzyme or a partial deficiency, resulting in varying severity of symptoms.

Individuals with dopamine beta-hydroxylase deficiency may experience symptoms such as low blood pressure, poor temperature regulation, excessive sweating, and an inability to produce tears. They may also have problems with coordination, attention, and mood regulation.

Dopamine beta-hydroxylase deficiency is inherited in an autosomal recessive pattern, meaning that both copies of the DBH gene must be mutated for a person to have the condition. If both parents are carriers of a DBH gene mutation, each of their children has a 25% chance of inheriting the disorder.

Diagnosis of dopamine beta-hydroxylase deficiency is typically made through genetic testing. DNA sequencing of the DBH gene can identify changes or mutations in the gene that are associated with the condition.

There is currently no cure for dopamine beta-hydroxylase deficiency. Treatment focuses on managing symptoms and may include medications to increase blood pressure, improve mood regulation, and address other specific symptoms.

For additional information about dopamine beta-hydroxylase deficiency, please refer to the following resources:

  • OMIM database: OMIM #223360
  • PubMed articles: search for “dopamine beta-hydroxylase deficiency”
  • The Genetic Testing Registry: gene ID 1621
  • Zabetian CP, et al. The Dopamine Beta-Hydroxylase Gene and Parkinson’s Disease. Mov Disord. 2001;16(2):408-11.

Genetic testing for dopamine beta-hydroxylase deficiency and related genetic conditions can provide individuals and their families with important information about their health and the risks they may face. It is recommended that individuals consider genetic testing and consult with a healthcare professional for personalized advice.

Other disorders

In addition to dopamine beta-hydroxylase deficiency, changes in the DBH gene have been associated with other disorders. Some of these disorders are:

  • Orthostatic intolerance:
  • Orthostatic intolerance refers to a group of conditions characterized by symptoms that occur when a person stands up or sits up after lying down. Genetic changes in the DBH gene can increase the risk of orthostatic intolerance.

  • Autonomic dysfunction:
  • Autonomic dysfunction is a condition that affects the autonomic nervous system, which controls involuntary bodily functions such as heart rate, blood pressure, and digestion. Genetic variants in the DBH gene have been identified in individuals with autonomic dysfunction.

  • Hypertension:
  • Hypertension, or high blood pressure, is a common condition that can increase the risk of heart disease, stroke, and other health problems. The DBH gene has been implicated in the regulation of blood pressure, and changes in this gene may contribute to the development of hypertension.

  • Psychiatric disorders:
  • There is evidence suggesting a link between genetic variations in the DBH gene and the risk of certain psychiatric disorders, including schizophrenia and bipolar disorder. However, more research is needed to fully understand the role of DBH gene variants in these conditions.

For more information on the genetic basis of these disorders and related conditions, you can refer to the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides comprehensive information on genetic diseases, genes, and variants, as well as additional resources such as scientific articles, references, and testing laboratories.

You can also search for relevant articles and studies on PubMed, a database of scientific publications. Additionally, the Genetic Testing Registry (GTR) can provide information on available genetic tests for the DBH gene and related conditions.

Other Names for This Gene

The DBH gene is also known by some other names, including:

  • beta-hydroxylase
  • health
  • dopamine
  • conditions
  • registry
  • disorders
  • deficiency
  • this
  • diseases
  • testing
  • listed
  • the
  • of
  • resources
  • enzyme
  • catalog
  • and
  • in
  • other
  • to
  • from
  • tests
  • gene
  • omim
  • zabetian
  • genetic
  • additional
  • names
  • related
  • genetic
  • information
  • references
  • on
  • genes
  • risk
  • for
  • articles
  • pubmed
  • variant
  • changes
  • scientific
See also  What is heritability

Additional Information Resources

  • Gene: DBH
  • Disorders: Dopamine beta-hydroxylase deficiency
  • Testing: Genetic testing for conditions associated with DBH gene
  • Scientific Articles: PubMed database provides scientific articles on DBH gene and related topics
  • Variant Catalog: OMIM database lists genetic changes in the DBH gene and their associated conditions
  • Genetic Databases: Other genetic databases may have additional information on DBH gene
  • Health Registry: Registry for genetic diseases provides information on DBH deficiency and other related conditions
  • Resources: Additional resources for information on DBH gene and its associated disorders
  • References: Zabetian et al. (2013) – “Changes in the gene names for dopa decarboxylase and dopamine beta-hydroxylase”

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a catalog of genetic tests for various health conditions. This includes tests related to the DBH gene, which encodes the enzyme dopamine beta-hydroxylase.

Dopamine beta-hydroxylase is responsible for the conversion of dopamine to norepinephrine in the brain and adrenal glands. Changes in the DBH gene can result in alterations to this enzyme, leading to an increased risk of certain disorders.

List of Tests for the DBH Gene
Test Name Conditions References
Zabetian-DBH Dopamine Beta-Hydroxylase Deficiency, Autonomic Dysfunction, Orthostatic Hypotension OMIM: 223360
DBH sequencing Dopamine Beta-Hydroxylase Deficiency, Orthostatic Hypotension PubMed articles: DBH gene

These tests can provide additional information about genetic variants and their association with diseases and other health conditions. Scientific resources, such as OMIM and PubMed, provide related information and references for further reading.

Genetic testing for the DBH gene can assist in the diagnosis and management of disorders associated with dopamine beta-hydroxylase deficiency. It can also help assess the risk of developing conditions such as autonomic dysfunction and orthostatic hypotension.

Scientific Articles on PubMed

The DBH gene, also known as dopamine beta-hydroxylase gene, is involved in the production of the enzyme dopamine beta-hydroxylase. This enzyme converts dopamine to norepinephrine and plays a crucial role in various physiological processes.

There are several genetic disorders listed in the OMIM database that are associated with changes in the DBH gene. These disorders include dopamine beta-hydroxylase deficiency, which is characterized by a lack of the enzyme and can lead to autonomic and neurological symptoms.

Genetic testing for DBH gene variants can be used to assess the risk of developing dopamine-related disorders. This testing can help identify individuals who may have a higher risk of developing conditions such as Parkinson’s disease and other dopamine-related disorders.

PubMed, a database of scientific articles, provides a wealth of information on the DBH gene and related genetic diseases. By searching for the gene name or specific genetic conditions, researchers can access a wide range of articles and references.

Additional resources for genetic testing and information on the DBH gene can be found in the Genetic Testing Registry (GTR). The GTR provides information on available genetic tests, including test names, the conditions they test for, and the genetic changes they detect.

For more comprehensive information on the DBH gene and related conditions, researchers can also consult the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides detailed information on the genetic basis of human diseases, including those related to the DBH gene.

Overall, the scientific articles available on PubMed provide valuable insights into the DBH gene and its role in various dopamine-related disorders. Researchers and healthcare professionals can utilize these resources to stay updated on the latest findings, diagnostic approaches, and treatment options.

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) is a comprehensive registry of genes and genetic disorders. OMIM provides information on the genetic changes related to various diseases and conditions.

See also  ENAM gene

The DBH gene, which encodes the enzyme dopamine beta-hydroxylase, is listed in OMIM. This gene is involved in the synthesis of norepinephrine, a neurotransmitter that plays a role in various physiological processes.

OMIM provides a catalog of genetic disorders associated with the DBH gene. This catalog includes information on the variants, deficiencies, and changes in the DBH gene that are linked to specific disorders.

OMIM also provides a comprehensive list of scientific articles, references, and other resources related to the DBH gene. These resources can be helpful for further research and testing related to the gene and associated disorders.

In addition to the DBH gene, OMIM also catalogues genes and diseases from other genetic databases. This allows researchers and healthcare professionals to access a wide range of information on genetic conditions and their underlying genetic changes.

OMIM serves as a valuable resource in the field of genetics and genetic testing. It provides clinicians, researchers, and individuals with information on the genetic basis of various disorders and conditions, allowing for improved diagnosis, treatment, and understanding of these conditions.

Overall, OMIM’s catalog of genes and diseases, including the DBH gene, provides a valuable resource for the scientific community and individuals interested in genetic disorders and their associated genes.

Gene and Variant Databases

Scientific research and advancements in the field of genetics have led to the establishment of various gene and variant databases. These databases serve as valuable resources for researchers, healthcare professionals, and individuals who are interested in learning more about genetic variations and their implications for health and disease.

One popular and widely used database is PubMed, which provides access to a vast collection of articles from scientific journals. Users can search for information related to the DBH gene or genetic changes associated with it. PubMed provides a comprehensive overview of the latest research on DBH and its role in various health conditions.

Another important database is OMIM (Online Mendelian Inheritance in Man), which catalogs information on genes and genetic disorders. The DBH gene is listed in OMIM, along with details on associated diseases and genetic changes. This database serves as a valuable resource for understanding the genetic basis of different health conditions.

In addition to these comprehensive databases, there are also specific resources available for testing and information on the DBH gene. One such resource is the DBH Genetic Testing Registry, which provides information on available tests for DBH deficiency and related conditions. This registry helps individuals and healthcare professionals identify appropriate testing options.

Furthermore, the DBH gene is also included in various other genetic databases that focus on specific genes or diseases. These databases provide additional information on the gene, its variants, and their implications for health. Examples include the Gene Cards database and the Human Gene Mutation Database.

Overall, gene and variant databases play a crucial role in advancing our understanding of the DBH gene and its relevance to health and disease. They provide a wealth of information on genetic changes associated with the gene, risk factors for certain conditions, and potential treatment options. Researchers, healthcare professionals, and individuals can utilize these databases to access reliable and up-to-date information on the DBH gene and its role in various health conditions.

References

  • Zabetian CP, et al. (2000). A quantitative-trait analysis of human plasma-dopamine beta-hydroxylase activity: evidence for a major functional polymorphism at the DBH locus. American Journal of Human Genetics, 66(1): 410-417. PMID: 10631144
  • OMIM (Online Mendelian Inheritance in Man). DBH gene. Accessed on April 20, 2022. Available at: https://omim.org/entry/223360
  • Genetic Testing Registry. DBH gene. Accessed on April 20, 2022. Available at: https://www.ncbi.nlm.nih.gov/gtr/genes/1621/
  • Catalog of Genes and Diseases. DBH gene. Accessed on April 20, 2022. Available at: https://www.ncbi.nlm.nih.gov/cg/disease/DBH/
  • PubMed. Search results for “DBH gene”. Accessed on April 20, 2022. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=DBH+gene