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Medline ® Abstract for Reference 30

of 'Gilbert syndrome and unconjugated hyperbilirubinemia due to bilirubin overproduction'

Gilbert's syndrome is caused by a heterozygous missense mutation in the gene for bilirubin UDP-glucuronosyltransferase.
Koiwai O, Nishizawa M, Hasada K, Aono S, Adachi Y, Mamiya N, Sato H
Hum Mol Genet. 1995;4(7):1183.
Gilbert's syndrome, which is characterized by chronic, non-hemolytic unconjugated hyperbilirubinemia, is caused by a reduction in the activity of hepatic bilirubin UDP-glucuronosyltransferase (UGT). Here, we report that all examined patients with this disease carried missense mutations in the gene for UGT and that the mutations were heterozygous. An expression study in COS cells in vitro, using the expression vector pcDL that carried the mutated gene for UGT from a patient, indicated that approximately 14% of the normal UGT activity was expressed. However, the UGT activity of the patient with Gilbert's syndrome was unexpectedly<50% of the normal, perhaps as the result of the dominant negative nature of the mutation.
Laboratories of Biochemistry, Aichi Cancer Center Research Institute, Nagoya, Japan.