The Genetic Basis of Gilbert's Syndrome

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Abstract
In the study by Bosma et al. (Nov. 2 issue)1 of the genetic basis of Gilbert's syndrome, the relevance of the variant TATAA element is far from certain. The authors do not provide data or cite references that demonstrate that a quantitative reduction in bilirubin UDP-glucuronosyltransferase 1 (bilirubin/uridine diphosphoglucuronate-glucuronosyltransferase 1) in patients with Gilbert's syndrome is related to transcriptional rather than translational or post-translational mechanisms. Furthermore, the normal functional characteristics of the native promoter are not made clear. Is transcription regulated by constitutive or inducible mechanisms? this point is relevant because the experiments were restricted to four steady-state transfections into a single liver cell line. Under stimulated conditions, is the function of the variant promoter still defective? Were the experiments repeated in other relevant cell lines?

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