New diagnostic method by identification of genetic factors in the etiology of PFE

2021 Fiscal Year Final Research Report

• Project/Area Number: 20K18755
• Research Category: Grant-in-Aid for Early-Career Scientists
• Allocation Type: Multi-year Fund
• Review Section: Basic Section 57070:Developmental dentistry-related
• Research Institution: Osaka University
• Principal Investigator: Morita Chisato 大阪大学, 歯学部附属病院, 医員 (50754727)
• Project Period (FY): 2020-04-01 – 2022-03-31
• Keywords: 遺伝子 / 非症候型原発性萌出不全 / 先天異常

Outline of Final Research Achievements

In this study, we conducted a genetic test with the goal of being able to be used as a screen for patients with suspected PFE. We aimed to link the detected causative gene with the treatment results.
We have completed genetic analysis of 3 families with PFE and 2 solitary cases. A previously reported PTH1R gene mutation whose causal relationship with pathogenicity has not been clarified was detected. We tried to narrow down the disease-causing genes in cases in which no PTH1R gene mutation was found, but we have not yet identified a new causative gene. However, in cases where PTH1R mutation was not observed, tooth movement may be observed with respect to orthodontic force, suggesting that some genotype / phenotype correlation is observed. In the future, we plan to increase the number of cases for consideration.

Free Research Field

歯科矯正学

Academic Significance and Societal Importance of the Research Achievements

本疾患のように咬合異常との関連が明らかとなっていない疾患において、その原因を解明することは早期治療やより有効で根本的な分子標的薬の探索や遺伝子治療に応用できる可能性が期待でき、非常に高い意義をもつと考えられる。