Gilbert's syndrome is hereditary and is mainly caused by genetic factors.
Gilbert's syndrome is a liver pathology considered mild and is caused by a failure of bilirubin metabolism.
Gilbert's syndrome is the first among the hereditary causes of hyperbilirubinemia, the frequency of occurrence is 5-10%.
The most noticeable symptom is the developing jaundice associated with an increase in the level of unconjugated bilirubin in the blood.
Hyperbilirubinemia develops as a result of a 70-80% decrease in the activity of the enzyme glucurontransferase, which provides bilirubin conjugation.
In healthy people, the proteins that ensure the transfer and processing of bilirubin from the blood to the liver are encoded by different genes.
Mutations and changes in these genes cause Gilbert's disease.
Since the mutation in the UGT1A1 gene is recessive, it is necessary to have a mutation in both chromosomal regions for the disease to occur.
Changes in the number of thyminadene (TA) repeats in the promoter region of the UGT1A1 gene affect the enzyme level.
The number of repetitions is more than 6; It reduces the level of UGT1A1 enzyme.
The UGT1A1 *28 variant [A(TA7)TAA] with repeat number 7 occurs at frequencies ranging from 3% to 40% of the population.
Gilbert's disease is mainly seen in association with the homozygous UGT1A1*28 variant.
