2022 Fiscal Year Final Research Report
Searching for causative genes in families with a high prevalence of juvenile-onset diabetes and its application to clinical practice
Project/Area Number |
20K08868
|
Research Category |
Grant-in-Aid for Scientific Research (C)
|
Allocation Type | Multi-year Fund |
Section | 一般 |
Review Section |
Basic Section 54040:Metabolism and endocrinology-related
|
Research Institution | Wakayama Medical University |
Principal Investigator |
Furuta Hiroto 和歌山県立医科大学, 医学部, 准教授 (90238684)
|
Co-Investigator(Kenkyū-buntansha) |
森田 修平 和歌山県立医科大学, 医学部, 講師 (50372868)
|
Project Period (FY) |
2020-04-01 – 2023-03-31
|
Keywords | 糖尿病 / 遺伝子 / PAX4 / HNF1B / HNF1A |
Outline of Final Research Achievements |
We sought to find new causative genes of juvenile-onset diabetes and also to solve problems during the genetic diagnosis of known causative genes of monogenic diabetes. In the former, it was clarified that the p.Arg200His mutation of PAX4 plays an important role. In the latter, we clarified that it is possible to detect chromosomal microdeletions by devising the data analysis of the whole exome sequencing method in the genetic diagnosis of HNF1B abnormality. We also clarified the important points when using in silico dysfunction prediction tools in the genetic diagnosis of HNF1A abnormality.
|
Free Research Field |
糖尿病
|
Academic Significance and Societal Importance of the Research Achievements |
若年発症糖尿病の病態においてPAX4は重要な遺伝子の一つであることが明らかとなったことから、その詳細なメカニズムの解明は糖尿病のさらなる理解や新たな治療法の開発につながることが期待される。さらに、HNF1BおよびHNF1Aに関しては、今回の結果は遺伝子診断を行う上ですぐに利用可能なものである。
|