Contribution of two missense mutations (G71R and Y486D) of the bilirubin UDP glycosyltransferase (UGT1A1) gene to phenotypes of Gilbert's syndrome and Crigler–Najjar syndrome type II

AbstractIn our mutation analyses of bilirubin UDP glycosyltransferase (UGT1A1) gene, we encountered six patients with Crigler–Najjar syndrome type II who were double homozygotes for G71R and Y486D, a patient with Gilbert's syndrome who was a single homozygote for G71R and six patients with Gilbert's syndrome who were single heterozygote for G71R. To clarify the role of each mutation in the occurrence of the two syndromes, we made four mutant expression models. Relative UGT1A1 activity of a single homozygous model of G71R was 32.2±1.6% of normal, that of a single homozygous model of Y486D was 7.6±0.5%, that of a double homozygous model of G71R and Y486D was 6.2±1.6% and that of a heterozygous model of G71R was 60.2±3.5%. The decreased activities of the single homozygous model of G71R and the double homozygous model were at an appropriate level to be diagnosed as Gilbert's syndrome and CN-II, respectively. The activity of a single heterozygous model of G71R was somewhat high to develop to the phenotype of Gilbert's syndrome, suggesting the presence of additional factors for the etiology of Gilbert's syndrome

the role of short-chain Fatty acids in the intestine

科学研究費補助金研究成果報告書研究種目: 基盤研究(B)研究期間: 2000～2002課題番号: 12470121研究代表者: 馬場 忠雄（滋賀医科大学・医学部・副学長）研究分担者: 安藤 朗（滋賀医科大学・医学部・助手

ODC gene overexpression and carcinogenesis of intestinal epithelial cells

科学研究費補助金研究成果報告書研究種目: 基盤研究(B)研究期間: 1995～1997課題番号: 07457594研究代表者: 馬場 忠雄（滋賀医科大学・医学部・教授）研究分担者: 辻川 知之（滋賀医科大学・医学部・助手

Clinical application of evaluation of complement protein levels in the exocrine pancreas to determine the pancreatic disease activity

科学研究費補助金研究成果報告書研究種目: 基盤研究(B)研究期間: 1997～1999課題番号: 09470135研究代表者: 馬場 忠雄（滋賀医科大学・医学部・教授）研究協力者: 安藤 朗（滋賀医科大学・医学部・学内講師）研究協力者: 辻川 知之（滋賀医科大学・医学部・助手

Practical study on palliative medicine education through teachers for medicine-Religionist Collaboration

科学研究費補助金研究成果報告書研究種目: 基盤研究(C)研究期間: 2009～2011課題番号: 21590561研究代表者: 馬場 忠雄（滋賀医科大学・学長）研究分担者: 早島 理（滋賀医科大学・医学部・教授）研究分担者: 佐藤 浩（滋賀医科大学・医学部・教授）研究分担者: 丸尾 良浩（滋賀医科大学・医学部・講師）研究分担者: 長倉 伯博（滋賀医科大学・医学部・非常勤講師