Genetic and enviromental interaction for the etiology of craniofacial defect

2018 Fiscal Year Final Research Report

• Project/Area Number: 16K15836
• Research Category: Grant-in-Aid for Challenging Exploratory Research
• Allocation Type: Multi-year Fund
• Research Field: Orthodontics/Pediatric dentistry
• Research Institution: Osaka University
• Principal Investigator: Kurosaka Hiroshi 大阪大学, 歯学部附属病院, 講師 (20509369)
• Research Collaborator: NAKAYA AKIHIRO ; KIKUCHI MASATAKA ; MASHIMO TOMOJI
• Project Period (FY): 2016-04-01 – 2019-03-31
• Keywords: 顎顔面形成不全 / ゲノム / 稀少疾患

Outline of Final Research Achievements

Craniofacial development is a complex process that involves sequential growth and fusion of the facial prominences. When these processes fail, congenital craniofacial anomalies can occur. Cleft palate (CP) is one of the most common congenital craniofacial anomalies in humans and can be caused by either single or multiple genetic and environmental factor(s). In this research project we have performed multiple exome sequencing in familial craniofacial disorders. From this analysis, we discovered novel single nucleotide mutation which causes amino acid transition in DLC1 (Deleted in Liver Cancer 1) in two independent families. We have also identified novel gene mutation which is related to PTH signaling pathway in familial craniosynostosis.

Free Research Field

歯科矯正学

Academic Significance and Societal Importance of the Research Achievements

胎生期における顎顔面の形成は複雑かつ精巧に行われ、その発生過程の不具合は口唇口蓋裂等の顎顔面形成不全の原因となる。同疾患は多因子性疾患であり、胎生期における遺伝的要因と環境的要因に大きな影響を受けて発病する事が知られている。本研究では顎顔面形成不全に関わる新規遺伝子変異を多数同定した。この事は将来的な同疾患の新規診断法報や治療方法の確立に大きく寄与する。