Pathophysiology of riboflavin transporter deficiency for developing therapeutic drugs

2014 Fiscal Year Final Research Report

• Project/Area Number: 24590190
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Medical pharmacy
• Research Institution: Kyoto University
• Principal Investigator: YONEZAWA Atsushi 京都大学, 医学(系)研究科(研究院), 講師 (90452341)
• Project Period (FY): 2012-04-01 – 2015-03-31
• Keywords: 薬学 / 薬理学 / 薬物動態学 / リボフラビン / トランスポータ

Outline of Final Research Achievements

In the present study, we carried out in vitro, in vivo and clinical investigations in order to clarify the pathology of riboflavin transporter (RFVT) deficiency. The data using the mice and culture cells showed that RFVT2 is expressed in the small intestine and mediates the uptake of riboflavin into intestinal epithelial cells. In addition, in the collaboration with foreign groups, it was suggested that the deficiency of RFVT2 as well as RFVT3 causes Brown-Vialetto-Van Laere syndrome (BVVLS). These results can help to clarify the pathology and develop the therapeutic strategy for BVVLS.

Free Research Field

医療薬剤学