Mutation analysis of the multidrug resistance protein 2 (MRP2) gene in a Japanese patient with Dubin-Johnson syndrome

Ikuo Machida; Yasutaka Inagaki; Satoshi Suzuki; Hisao Hayashi; Shinya Wakusawa

doi:10.1016/j.hepres.2004.07.004

Mutation analysis of the multidrug resistance protein 2 (MRP2) gene in a Japanese patient with Dubin-Johnson syndrome

Hepatol Res. 2004 Oct;30(2):86-90. doi: 10.1016/j.hepres.2004.07.004.

Authors

Ikuo Machida¹, Yasutaka Inagaki, Satoshi Suzuki, Hisao Hayashi, Shinya Wakusawa

Affiliation

¹ Department of Medicine, Faculty of Pharmaceutical Sciences, Hokuriku University, Ho-3, Kanagawa-machi, Kanazawa 920-1181, Japan.

PMID: 15519272
DOI: 10.1016/j.hepres.2004.07.004

Abstract

Dubin-Johnson syndrome (DJS) is a recessive inherited disorder with conjugated hyperbilirubinemia caused by a dysfunction of multidrug resistance protein 2 (MRP2) on the canalicular membrane of hepatocytes. A mutational analysis of the MRP2 gene was carried out in a Japanese female with DJS. In this patient, we found a homozygous 2125T > C mutation in exon 17. This mutation affects the conversion of tryptophan(709) to arginine(709) (W709R) in the first ATP-binding cassette in the MRP2 protein. It was concluded that this homozygous mutation of the MRP2 gene contributed to the induction of hyperbilirubinemia in this case.