Identification of novel genes associated with regulation of FGF23 synthesis

2016 Fiscal Year Final Research Report

• Project/Area Number: 15K19528
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Endocrinology
• Research Institution: The University of Tokyo
• Principal Investigator: Kinoshita Yuka 東京大学, 医学部附属病院, 助教 (00746729)
• Project Period (FY): 2015-04-01 – 2017-03-31
• Keywords: FGF23関連低リン血症性疾患 / 責任遺伝子 / エクソーム解析 / RNAシークエンス

Outline of Final Research Achievements

Fibroblast growth factor 23 is a bone-derived phosphaturic hormone. The purpose of this study was to clarify the mechanism of FGF23 synthesis by identifying novel genes associated with FGF23-related hypophosphatemic diseases. As a result, I have found 3 novel and 5 reported mutations in the PHEX gene in 9 patients from 8 families with FGF23-related hypophosphatemic rickets, and have confirmed that X-linked hypophosphatemic rickets is the most commonly inherited form of FGF23-related hypophosphatemic rickets in Japan. Additionally, I have performed RNA sequencing of a tumor responsible for tumor-induced osteomalacia and have analyzed the regulatory mechanisms of gene expression in the tumor.

Free Research Field

内分泌骨代謝異常疾患