The elucidation of the genetic background of osteogenesis imperfecta : Deployment to the custom-made medical treatment by a genotype.

2011 Fiscal Year Final Research Report

• Project/Area Number: 21591309
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Tohoku University
• Principal Investigator: KANNO Junko 東北大学, 病院, 医員 (30509386)
• Co-Investigator(Kenkyū-buntansha): KURE Shigeo 東北大学, 医学系研究科, 教授 (10205221) ; FUJIWARA Ikuma 東北大学, 医学系研究科, 准教授 (10271909)
• Co-Investigator(Renkei-kenkyūsha): FUJIWARA Ikuma 東北大学, 医学系研究科, 准教授 (10271909)
• Project Period (FY): 2009 – 2011
• Keywords: 骨形成不全症 / ビスフォスフォネート / COL1A1 / COL1A2 / LEPRE1 / CRTAP

Research Abstract

Sequencing analysis of COL1A1 and COL1A2 in 22 OI patients revealed 14 mutations. Each of the 14 mutations was found only in a single family. COL1A1 and COL1A2 mutant alleles are heterogeneous. Glycine to serine substitutions tend to lead to a more severe phenotype. Most of the patients had blue sclerae and dentinogenesis imperfecta. Bisphosphpnate significantly increased BMD in all the patients, though no correlation was found between the mutated gene or mutation type and increment in BMD.