The elucidation of the molecular biologic pathology in the Osteogenesis imperfecta and new molecular target treatment by the Wnt signal pathway.

2016 Fiscal Year Final Research Report

• Project/Area Number: 26461541
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Tohoku University
• Principal Investigator: Kanno Junko 東北大学, 大学病院, 講師 (30509386)
• Project Period (FY): 2014-04-01 – 2017-03-31
• Keywords: 骨形成不全症 / COL1A1 / COL1A2 / PPIB

Outline of Final Research Achievements

The purpose of this study is the whole aspect elucidation of the molecular background of osteogenesis imperfecta (OI) and the establishment of a new molecular target treatment. COL1A1 and COL1A2 mutations were detected in 79% of Japanese patients with OI in this study. (Junko Kanno: Journal of Bone and Mineral Metabolism, 2017 in press). We performed exome analysis for the patients that mutation was not found continuously by COL1A1 gene, COL1A2 gene. We identified this country first PPIB variation in exome analysis to one patient. The clinical phenotype of the patient was similar to some previous reports. We are preparing for the functional analysis now.

Free Research Field

小児内分泌学