The UGT1A1 gene, also known as bilirubin-uglucuronosyltransferase 1A1, is a scientific term that refers to a gene involved in the glucuronidation of bilirubin. This gene is responsible for the conjugation of bilirubin, a product of heme catabolism, which is then excreted from the body. Mutations in the UGT1A1 gene can cause various disorders related to bilirubin processing, including Gilbert syndrome, Crigler-Najjar syndrome, and neonatal hyperbilirubinemia. These conditions can lead to elevated levels of unconjugated bilirubin in the blood, which can be toxic and cause problems such as jaundice and kernicterus.

Scientists have written numerous articles on the UGT1A1 gene, and information about it can be found in various scientific databases such as OMIM and PubMed. These resources provide additional references and information about the genetic changes and mutations in the UGT1A1 gene, as well as the related diseases and conditions they may cause. Testing for mutations in the UGT1A1 gene can be performed to diagnose these disorders and guide treatment decisions. One common variant that is often tested for is the UGT1A1*28 allele, which is associated with decreased enzyme activity and an increased risk of adverse effects from certain medications, such as irinotecan and warfarin.

It is important to note that the UGT1A1 gene is just one of many genes involved in bilirubin metabolism and conjugation. Other genes, such as UGT1A7 and UGT1A8, also play a role in this process. Understanding the functions of these genes and how they interact can provide valuable insights into the development of new treatments for conditions related to bilirubin processing and conjugation.

In conclusion, the UGT1A1 gene is a key player in the glucuronidation of bilirubin. Mutations in this gene can lead to various disorders related to bilirubin processing and metabolism. Scientists continue to study this gene and its related pathways in order to develop new tests and treatments for these conditions, with the ultimate goal of improving the health and well-being of individuals affected by these disorders.

The UGT1A1 gene is responsible for producing an enzyme called bilirubin-UGT. This enzyme plays a crucial role in the glucuronidation process, which is the body’s way of eliminating waste substances, including bilirubin.

Genetic changes in the UGT1A1 gene can lead to various health conditions and disorders. One of the most common conditions associated with UGT1A1 gene mutations is Gilbert syndrome. This syndrome is characterized by mild hyperbilirubinemia, which is an increase in the levels of unconjugated bilirubin in the blood. Individuals with Gilbert syndrome may experience occasional jaundice, especially during times of stress, illness, or fasting.

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Another genetic condition related to UGT1A1 gene changes is Crigler-Najjar syndrome. This rare disorder is characterized by severe unconjugated hyperbilirubinemia, leading to an increased risk of kernicterus, a rare and potentially life-threatening form of brain damage caused by high levels of bilirubin. Crigler-Najjar syndrome can be further classified into two types, type 1 and type 2, depending on the severity of the condition.

Additionally, certain genetic changes in the UGT1A1 gene can cause increased resistance to certain drugs, such as the anticoagulant warfarin. These changes may affect the metabolism of drugs that are eliminated through glucuronidation, leading to variations in their effectiveness and potential toxicity.

The UGT1A1 gene is not the only gene involved in gluconidation. There are other genes that contribute to this process, including UGT1A3, UGT1A4, UGT1A6, UGT1A7, UGT2B4, UGT2B7, and UGT2B15. Changes in any of these genes may also contribute to the development of various health conditions and diseases.

To find more information about health conditions related to genetic changes in the UGT1A1 gene and other conjugating enzymes, you can refer to scientific articles and databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide additional references, articles, and testing information for related disorders.

Health Condition Gene/Enzyme
Gilbert syndrome UGT1A1
Crigler-Najjar syndrome type 1 UGT1A1
Crigler-Najjar syndrome type 2 UGT1A1
Warfarin resistance UGT1A1
Neonatal hyperbilirubinemia UGT1A1
  • Genetic changes in the UGT1A1 gene can cause various health conditions and disorders.
  • Gilbert syndrome is a common condition associated with UGT1A1 gene mutations.
  • Crigler-Najjar syndrome is a rare disorder characterized by severe unconjugated hyperbilirubinemia.
  • Changes in the UGT1A1 gene can lead to increased resistance to certain drugs.
  • Other genes and enzymes, such as UGT1A3, UGT1A4, UGT1A6, UGT1A7, UGT2B4, UGT2B7, and UGT2B15, are also involved in glucuronidation.
  • Scientific articles and databases, such as OMIM and PubMed, provide additional information and resources on related disorders.

Crigler-Najjar syndrome

Crigler-Najjar syndrome is a rare genetic condition that is a variant of Gilbert syndrome. It is characterized by a severe form of unconjugated hyperbilirubinemia, which can lead to kernicterus, a condition causing brain damage due to high levels of bilirubin.

There are two types of Crigler-Najjar syndrome: type 1 (CNS1) and type 2 (CNS2). Type 1 is the more severe form, with total absence of the bilirubin-UGT enzyme, resulting in unconjugated hyperbilirubinemia since birth. Type 2 is less severe, as there is partially reduced enzyme activity. Neonatal jaundice and other symptoms may be present, but they tend to improve over time.

Crigler-Najjar syndrome is caused by mutations in the UGT1A1 gene, which codes for the bilirubin-UGT enzyme responsible for conjugating bilirubin in the liver. The specific mutation G71R is frequently found in patients with CNS1. These genetic changes decrease the activity of the UGT1A1 enzyme, leading to the buildup of unconjugated bilirubin in the blood.

Diagnosis of Crigler-Najjar syndrome is typically made by measuring bilirubin levels in the blood and ruling out other causes of jaundice. Genetic testing can confirm the presence of UGT1A1 gene mutations. Other tests, such as liver function tests and imaging studies, may be performed to assess the extent of liver damage.

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There is currently no cure for Crigler-Najjar syndrome, but treatment options are available to manage the condition. Phototherapy, using specific wavelengths of light to breakdown bilirubin, can help reduce bilirubin levels. In severe cases, liver transplantation may be necessary.

It is important for individuals with Crigler-Najjar syndrome to avoid triggers that can increase bilirubin levels, such as fasting, dehydration, and certain medications. Breastfeeding may also need to be restricted in newborns with CNS1. Regular follow-up with a healthcare provider is necessary to monitor bilirubin levels and manage any complications that may arise.

More information about Crigler-Najjar syndrome and related conditions can be found in various resources, such as scientific databases like PubMed and OMIM. The Crigler-Najjar Syndrome Type I and II Registry and Database is also a valuable source of information and support for individuals and families affected by this condition.

References:

  1. “Crigler-Najjar Syndrome.” National Organization for Rare Disorders (NORD).
  2. “Crigler-Najjar Syndrome Type I and II.” Online Mendelian Inheritance in Man (OMIM).
  3. Bosma, P. J., Chowdhury, J. R., Bakker, C., et al. (1995). “The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert’s syndrome.” New England Journal of Medicine, 333(18), 1171-1175.
  4. Maruo, Y., Nishizawa, K., Sato, H., et al. (1995). “Mutations of the bilirubin uridine diphosphate-glucuronosyltransferase gene in a family with Crigler-Najjar syndrome type I.” American Journal of Human Genetics, 56(1), 88-97.

Gilbert syndrome

Gilbert syndrome is a genetic condition caused by mutations in the UGT1A1 gene. The UGT1A1 gene provides instructions for making an enzyme called bilirubin-UGT. This enzyme is responsible for the glucuronidation of bilirubin, a yellow pigment that is produced when red blood cells break down. Glucuronidation is the process by which bilirubin is converted into a form that can be easily excreted from the body.

Individuals with Gilbert syndrome have changes (mutations) in the UGT1A1 gene that result in decreased activity of the bilirubin-UGT enzyme. As a result, there is an increase in unconjugated bilirubin, which is the form of bilirubin that is not yet been glucuronidated. Unconjugated bilirubin is not readily excreted and can build up in the blood, leading to a condition known as hyperbilirubinemia.

Gilbert syndrome is a relatively common condition, affecting about 3-12% of the population. It is usually diagnosed in adolescence or early adulthood and tends to be a benign condition, with no associated symptoms or long-term health problems.

Individuals with Gilbert syndrome may have mild jaundice, which is a yellowing of the skin and eyes. The jaundice can be triggered by factors such as fasting, stress, dehydration, or illness. In most cases, the jaundice is mild and resolves on its own without any treatment.

There is no specific treatment for Gilbert syndrome, as it is considered a benign condition. However, it is important for individuals with Gilbert syndrome to be aware of their condition and to inform their healthcare providers. Certain medications, such as warfarin, may require dose adjustments in individuals with Gilbert syndrome due to the reduced ability to metabolize and eliminate the drug.

Genetic testing can be used to confirm a diagnosis of Gilbert syndrome. Testing usually involves sequencing the UGT1A1 gene to identify any changes or mutations. However, in most cases, the diagnosis of Gilbert syndrome is made based on clinical symptoms and a family history of the condition.

Additional resources for information on Gilbert syndrome and related conditions can be found in databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. The UGT1A1 gene and other related genes are listed in these databases, along with information on their genetic variant names, associated conditions, and scientific articles written about them. The Human Gene Mutation Database (HGMD) is also a valuable resource for genetic information.

In summary, Gilbert syndrome is a genetic condition characterized by reduced activity of the bilirubin-UGT enzyme, resulting in elevated levels of unconjugated bilirubin. It is a relatively common and benign condition, with mild jaundice being the main symptom. Genetic testing can be performed to confirm the diagnosis, but it is not always necessary. Management of the condition primarily involves awareness and communication with healthcare providers.

Warfarin resistance

Warfarin resistance is a condition that occurs due to changes in the UGT1A1 gene. This gene is responsible for the glucuronidation of bilirubin, a byproduct of the breakdown of red blood cells.

In individuals with mutations in the UGT1A1 gene, the bilirubin-UGT enzyme is reduced, leading to increased levels of unconjugated bilirubin in the blood. This can cause various health conditions, including hyperbilirubinemia and kernicterus, a toxic buildup of bilirubin in the brain.

Warfarin resistance, specifically related to the UGT1A1 gene, has been written about in scientific articles and can be found in genetic databases, such as OMIM and the UGT1A1 gene mutation catalog.

Warfarin is an anticoagulant medication commonly used for blood thinning purposes. In individuals with warfarin resistance, the UGT1A1 gene mutations can cause the medication to be ineffective in blocking the coagulation process, leading to a reduced response to warfarin therapy.

Testing for warfarin resistance can be done through genetic testing, specifically looking for variants in the UGT1A1 gene. Other related conditions, such as Gilbert syndrome and Crigler-Najjar syndrome, may also cause an increase in bilirubin levels and be associated with warfarin resistance.

Further information can be found in scientific articles and databases, including PubMed, as well as references provided by scientific publications.

References:

  • OMIM database: UGT1A1 gene
  • The UGT1A1 gene mutation catalog
  • Warfarin resistance and the UGT1A1 gene: scientific articles on PubMed
  • Related conditions: Gilbert syndrome and Crigler-Najjar syndrome

Other disorders

In addition to Gilbert syndrome, mutations in the UGT1A1 gene can cause other disorders related to the impaired metabolism of bilirubin. Some of these disorders include:

  • Crigler-Najjar syndrome: This is a rare genetic condition characterized by the complete absence or severe reduction in the activity of the UGT1A1 enzyme. It leads to high levels of unconjugated bilirubin in the blood, which can be toxic and cause severe jaundice. There are two types of Crigler-Najjar syndrome: type 1, which is more severe and requires lifelong treatment, and type 2, which is less severe and may not require treatment.
  • Kernicterus: Kernicterus is a condition that can occur in newborns with severe jaundice. It is caused by the accumulation of unconjugated bilirubin in the brain, which can lead to permanent neurological damage. Mutations in the UGT1A1 gene can increase the risk of developing kernicterus.
See also  SHH gene

There is limited scientific information available regarding other UGT1A1 gene-related disorders besides Gilbert syndrome, Crigler-Najjar syndrome, and kernicterus. However, further research may uncover additional conditions and diseases associated with changes or mutations in this gene.

The OMIM database (Online Mendelian Inheritance in Man) provides more information on the UGT1A1 gene, including genetic variations, related conditions, and references to scientific articles. PubMed is another useful resource for finding scientific articles on the UGT1A1 gene and its various associated disorders.

Testing for genetic changes in the UGT1A1 gene can be performed using DNA sequencing techniques. Commercial genetic testing services and genetic testing laboratories may offer specific tests for Gilbert syndrome, Crigler-Najjar syndrome, or other UGT1A1-related disorders.

Breastfeeding can sometimes cause mild transient hyperbilirubinemia in newborns with Gilbert syndrome due to the presence of uridine in breast milk. If breastfeeding is a concern, consulting with a healthcare professional is recommended to determine the appropriate course of action.

The UGT1A1 gene is listed as “Bilirubin-UDP glucuronosyltransferase” in the OMIM database, and its alternate names include “UGT1A,” “UDP-GT 1-1,” “UDP-glucuronosyltransferase 1 family, polypeptide A complex locus,” and “UDP-glucuronosyltransferase 1-1.”

For more information on testing, resources, and related conditions, the following databases and resources may also be helpful:

  • The Genetic Testing Registry (GTR): Provides information on available genetic tests and laboratories that offer testing for UGT1A1-related disorders.
  • The Human Gene Mutation Database (HGMD): Catalogs reported mutations and variants in the UGT1A1 gene.
  • The National Library of Medicine Genetics Home Reference: Offers detailed summaries on genetic conditions, genes, and related resources.

It is important to note that the information provided here is not exhaustive, and further scientific research is needed to fully understand the role of the UGT1A1 gene in various disorders and diseases.

Other Names for This Gene

This gene is also known by other names:

  • UGT1A1 gene: This is the official name of the gene as given by scientific databases.
  • Bilirubin-UGT: This name refers to the function of the gene in the glucuronidation of bilirubin, a process that helps remove toxic conjugated bilirubin from the body.
  • UDP-glucuronosyltransferase 1 family, polypeptide A1 gene: This is the full name of the gene, which indicates its association with the UDP-glucuronosyltransferase 1 family.
  • UGT1A: This abbreviation is often used to refer to the UGT1A1 gene and related genes in the same family that are involved in glucuronidation processes.
  • Gilbert syndrome gene: This name relates to a common condition caused by mutations in the UGT1A1 gene, resulting in mild unconjugated hyperbilirubinemia.
  • Crigler-Najjar syndrome gene: This name refers to a rare genetic condition characterized by severe unconjugated hyperbilirubinemia due to complete or near-complete deficiency of UGT1A1 enzymatic activity.
  • TATA box-binding protein gene: This name describes the TATA box-binding protein’s role in regulating the expression of the UGT1A1 gene.

Information on this gene can be found in various scientific databases and resources, including OMIM, PubMed, and genetic testing catalogs. Additional information and related articles can be found using references and resources listed in these databases.

Additional Information Resources

For more information on the UGT1A1 gene and related conditions, the following resources may be helpful:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive online catalog of human genes and genetic disorders. It provides detailed information on the UGT1A1 gene and related conditions such as Gilbert syndrome, Crigler-Najjar syndrome, and neonatal hyperbilirubinemia. You can access OMIM at https://omim.org.

  • PubMed: PubMed is a widely used database of scientific articles in the field of medicine and health. It contains a wealth of research on the UGT1A1 gene, bilirubin-UGT enzymes, and their role in various diseases and conditions. You can search for relevant articles at https://www.ncbi.nlm.nih.gov/pubmed/.

  • Genetic Testing Registry: The Genetic Testing Registry provides information about genetic tests for various diseases and conditions. It includes details about specific tests for UGT1A1 gene mutations and their implications. Visit the registry at https://www.ncbi.nlm.nih.gov/gtr/.

  • Warfarin and UGT1A1: This scientific article written by Tata et al. focuses on the influence of UGT1A1 gene variants on warfarin dosing and the risk of adverse drug reactions. It provides insights into how UGT1A1 genetic changes can affect drug metabolism. The article can be found at https://pubmed.ncbi.nlm.nih.gov/19106807/.

Tests Listed in the Genetic Testing Registry

The UGT1A1 gene is responsible for the production of an enzyme called bilirubin-uridine glucuronosyltransferase (UGT1A1). This enzyme plays a crucial role in the glucuronidation process, which is responsible for the breakdown and elimination of bilirubin, a byproduct of red blood cell breakdown. Mutations in the UGT1A1 gene can lead to reduced or absent enzyme activity, resulting in an increase in unconjugated bilirubin levels in the body.

The Genetic Testing Registry (GTR) provides a comprehensive catalog of tests available for various genetic disorders, including those related to the UGT1A1 gene. These tests can help diagnose conditions such as Gilbert syndrome, Crigler-Najjar syndrome, and other conditions associated with hyperbilirubinemia.

Some of the tests listed in the GTR include:

  • Gilbert syndrome: This test detects mutations in the UGT1A1 gene that cause reduced enzyme activity, leading to an increase in unconjugated bilirubin. It is a common condition that usually does not cause any symptoms or health problems.
  • Crigler-Najjar syndrome: This test looks for mutations in the UGT1A1 gene that result in a complete absence of enzyme activity. Individuals with this condition have severely elevated unconjugated bilirubin levels, which can lead to jaundice, neurological damage, and potentially life-threatening kernicterus in newborns.
  • UGT1A1 gene sequencing: This test involves analyzing the entire UGT1A1 gene for mutations that disrupt enzyme function. It can be used to identify specific mutations that cause disorders related to UGT1A1 gene dysfunction.

In addition to these specific tests, the GTR also provides information on other genes and variants associated with bilirubin glucuronidation and related conditions. It includes references to scientific articles, databases (such as OMIM and PubMed), and other resources for further reading and research.

Genetic testing for UGT1A1 gene mutations can be helpful in diagnosing and managing conditions related to bilirubin metabolism. It can guide treatment decisions, such as determining the appropriate dose of medications that are affected by UGT1A1-mediated glucuronidation, like warfarin. It can also help identify individuals who may be at risk for developing certain hepatic and neonatal conditions.

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It is important to note that genetic testing should be performed and interpreted by qualified healthcare professionals. They can provide personalized counseling and guidance based on an individual’s specific genetic changes and medical history.

Scientific Articles on PubMed

The UGT1A1 gene, also known as bilirubin-ugt or UDP-glucuronosyltransferase 1 family, polypeptide A1, is responsible for the production of enzymes that help in the conjugation and elimination of bilirubin. Mutations in this gene can cause various conditions and disorders related to bilirubin metabolism.

Scientific articles on PubMed provide additional information on the UGT1A1 gene and its role in various diseases and health conditions. They cover topics such as the g71r variant of UGT1A1 and its relation to warfarin resistance, the testing and development of new drugs targeting UGT1A1 enzymes, and the occurrence of hyperbilirubinemia in patients with Gilbert syndrome.

References to scientific articles on PubMed can be found in the OMIM and UGT1A1 gene entries, as well as in other genetic databases and registries. These articles discuss the genetic changes and mutations in UGT1A1, the common gene variants associated with diseases such as Crigler-Najjar syndrome and neonatal hyperbilirubinemia, and the impact of breastfeeding on bilirubin levels in infants.

Additional resources, such as the UGT1A1 gene catalog and the UGT1A1 registry, provide a comprehensive list of genes and mutations related to bilirubin metabolism and related disorders. This information is essential for medical professionals and researchers investigating bilirubin glucuronidation and its role in toxicology, health conditions, and drug metabolism.

Catalog of Genes and Diseases from OMIM

The UGT1A1 gene is related to various diseases and conditions. Here is a catalog of genes and diseases from OMIM:

  • Gilbert syndrome: This genetic condition is caused by changes in the UGT1A1 gene. It leads to hyperbilirubinemia, a condition where bilirubin levels in the blood are higher than normal. Most individuals with Gilbert syndrome have a reduced ability to glucuronidate bilirubin, resulting in an increase in unconjugated bilirubin levels. This condition is usually benign and does not require treatment.
  • Crigler-Najjar syndrome: This is another genetic condition caused by changes in the UGT1A1 gene. It leads to severe hyperbilirubinemia and can cause toxic levels of unconjugated bilirubin. There are two main types of Crigler-Najjar syndrome: type I is more severe and requires lifelong treatment, while type II is less severe. Treatment for type I may involve regular phototherapy or liver transplantation.
  • Other disorders related to UGT1A1 gene: In addition to Gilbert and Crigler-Najjar syndromes, the UGT1A1 gene is also associated with other diseases and conditions. These include neonatal hyperbilirubinemia, kernicterus (a type of brain damage caused by severe jaundice), and drug-induced liver injury (related to the metabolism of drugs such as warfarin).

Genetic testing can detect changes or mutations in the UGT1A1 gene and help diagnose these conditions. OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on genes and genetic disorders. It includes articles, references, and related resources for more detailed information on specific genes and diseases.

Here are some resources and databases related to UGT1A1 and these conditions:

  1. OMIM: OMIM is a valuable resource for finding more information on genes and genetic diseases. It provides detailed descriptions, clinical features, and inheritance patterns for different disorders.
  2. PubMed: PubMed is a database of scientific articles, including studies and research papers related to UGT1A1 gene and associated conditions. It can provide more in-depth information on specific topics and recent advances in the field.
  3. GeneTests: GeneTests is a registry of genetic testing laboratories and clinics. It lists tests available for different genes and disorders, including UGT1A1-related conditions.

Overall, the UGT1A1 gene plays a crucial role in bilirubin glucuronidation and is associated with various disorders. Understanding the genetic changes and mutations in this gene can help in the diagnosis and management of these conditions.

Gene and Variant Databases

This section provides a summary of the gene and variant databases related to the UGT1A1 gene. These databases contain valuable information on the various gene variants, their associated diseases, and related conditions.

1. The Conjugated Hyperbilirubinemia Gene Variant Database

This database lists the mutations in the UGT1A1 gene that are associated with conjugated hyperbilirubinemia. It provides information on the diseases and conditions related to these gene variants, including Crigler-Najjar syndrome, Gilbert syndrome, and neonatal hyperbilirubinemia. The database includes references to scientific articles and resources for further reading.

2. The UGT1A1 Gene Database

This database focuses specifically on the UGT1A1 gene and provides information on its structure, function, and various gene variants. It includes a comprehensive list of the different mutations that can occur in the gene, as well as their effects on bilirubin glucuronidation and bilirubin metabolism. The database also contains references to scientific articles and other resources for more in-depth reading.

3. The Genetic Testing Registry

The Genetic Testing Registry provides information on genetic tests for various conditions and disorders. It includes information on genetic tests for UGT1A1 gene variants that cause conditions such as Crigler-Najjar syndrome and Gilbert syndrome. The registry provides a list of available tests, their indications, and references to scientific articles and resources for further information.

4. OMIM (Online Mendelian Inheritance in Man)

OMIM is a comprehensive database that provides information on genetic disorders and related genes. It contains information on the UGT1A1 gene and its associated disorders, including Crigler-Najjar syndrome and Gilbert syndrome. The database includes descriptions of the gene, its function, and references to scientific articles for further reading.

In conclusion, these gene and variant databases are valuable resources for obtaining information on the different gene variants of UGT1A1 and their associated diseases and conditions. They provide references to scientific articles and other resources for further reading and offer a comprehensive overview of the current knowledge on this gene and its related disorders.

References