UGT1A1muutokset

UGT1A1muutokset refers to variations or mutations in the UGT1A1 gene. This gene provides instructions for making an enzyme called uridine diphosphate-glucuronosyltransferase 1A1. This enzyme plays a crucial role in the liver by metabolizing or breaking down various substances, including bilirubin, a byproduct of red blood cell breakdown.

Mutations in the UGT1A1 gene can lead to reduced or absent activity of the UGT1A1 enzyme. This impaired enzyme function can result in the accumulation of bilirubin in the body. Elevated bilirubin levels can manifest as jaundice, a yellowing of the skin and eyes.

The most well-known consequence of UGT1A1 mutations is Gilbert's syndrome, a common and generally harmless genetic condition characterized by mild, intermittent jaundice. In more severe cases, significant UGT1A1 deficiency can lead to Crigler-Najjar syndrome, a rare and serious disorder that requires medical intervention. Additionally, variations in UGT1A1 can affect how certain medications are metabolized, potentially increasing the risk of adverse drug reactions, particularly with chemotherapy drugs like irinotecan. Genetic testing can identify UGT1A1 variants, which can be important for personalized medicine and treatment planning.