The enzyme required for bilirubin conjugation, hepatic bilirubin UDP-glucuronosyltransferase 1A1 (UGT1A1), is less abundant in people with Gilbert syndrome. The UGT1A1 gene on chromosome 2q37 codes for this enzyme. What is Gilbert's syndrome caused by UGT1A1? Gilbert syndrome can be...
The enzyme required for bilirubin conjugation, hepatic bilirubin UDP-glucuronosyltransferase 1A1 (UGT1A1), is less abundant in people with Gilbert syndrome. The UGT1A1 gene on chromosome 2q37 codes for this enzyme.
Gilbert syndrome can be brought on by changes in the UGT1A1 gene. Periods of moderate unconjugated hyperbilirubinemia, which infrequently results in jaundice episodes, describe this illness. Gilbert syndrome affects people all across the world, however some variants are more prevalent in certain groups.
The UGT1A1 gene belongs to a gene family that produces an enzyme family called UDP-glucuronosyltransferases. These enzymes perform a procedure called glucuronidation, which involves joining (conjugating) glucuronic acid to a range of different compounds.
By examining each patient's genotype, the UGT1A1 Gene Polymorphism (TA Repeat) assay seeks to identify the colorectal cancer patients who will profit the most from and endure the fewest side effects from treatment with 5-FU, oxaliplatin, and irinotecan.
Genetic testing for the UGT1A1 gene presently identifies Gilbert syndrome and Crigler-Najjar syndrome.
A chronic ailment, Gilbert's syndrome. It doesn't need to be addressed because there's no harm to your health, no problems, and no increased risk of liver disease. Episodes of jaundice and any symptomatology that goes along with them are frequently momentary and eventually disappear.
Gilbert syndrome, a typical and harmless disorder
In the instance of Gilbert syndrome, two nucleotides are inserted into the promoter of the gene. The Crigler-Najjar syndrome is caused by type I and type II mutations that cause stop codons, reading frame modifications, or amino acid exchanges.
Gilbert's syndrome (GS), a hereditary disease, affects around 10% of people globally. GS is frequently associated with the UGT1A128 polymorphism of the UGT1A1 gene, which produces the enzyme bilirubin uridine diphosphate glucuronosyltransferase (UGT-1A). This enzyme is crucial for bilirubin metabolism.
Researchers can use genotyping to examine genetic variants such as minor structural changes to DNA, copy number variations, and single nucleotide variations.
Conclusions: The UGT1A1*28 polymorphism is present in 51.5% of GI cancer patients in the Appalachian region, according to the cited literature. The homozygous rate of UGT1A1 *28 mutations was 13.2% and 38.3%, respectively.
Among the therapeutic drug substrates for UGT1A1 are irinotecan (SN-38), acetaminophen (paracetamol), carvedilol, etoposide, lamotrigine, and simvastatin [1-3]. The UGT1A1*28 polymorphism now appears to have the biggest clinical impact on anticancer drugs, though.
Uridine 5′-diphospho (UDP)-glucuronosyltransferases (UGTs), a subfamily of phase II enzymes, are involved in conjugating xenobiotics or endogenous compounds, like drugs and bilirubin, with glucuronic acid to aid excretion.
UGT1A1 is one of many UGT1A enzymes that are encoded by the UGT1A gene complex on chromosome 2q37. There are 4 pseudo exons and 13 tandemly organised first exons in the UGT1A complex's 5-prime region, which are related to 4 common exons in the 3-prime region.
|Test Type||Gilbert Syndrome Genotyping (UGT1A1)|
Gilbert Syndrome Genotyping (UGT1A1) (Pathology Test)
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