2017 Fiscal Year Final Research Report
Identification of CDK2 and CDK3 as new causative genes for Multiple Endocrine Neoplasia type 1
| Project/Area Number |
16K19551
|
|---|
| Research Category |
Grant-in-Aid for Young Scientists (B)
|
| Allocation Type | Multi-year Fund |
|---|
| Research Field |
Endocrinology
|
|---|
| Research Institution | Gunma University |
|---|
Principal Investigator |
|
|---|
| Research Collaborator |
YAMADA Masanobu
SATOH Tetsuro
|
|---|
| Project Period (FY) |
2016-04-01 – 2018-03-31
|
| Keywords | 多発性内分泌腫瘍症1型 / 細胞周期調節因子 / 遺伝子変異 |
|---|
| Outline of Final Research Achievements |
In this study, the newly discovered M196T mutation of CDK2 gene, R122W mutation, and P204S mutation of CDK3 gene can actually cause the disease as a candidate of new causative gene mutation of Multiple endocrine neoplasia type 1. As a result of the study using stable expression cell lines, M196T mutation, R122W mutation, it was found that these mutations did not affect the proliferation of the cell. Therefore, it was not considered to be the cause of the onset of Multiple endocrine neoplasia type 1. Since the preparation of stable expression cell lines of CDK3 gene wild type was difficult, the stable cell line of P204S mutation was compared with stable expression cell lines that express benign SNP. As a result, P204S mutation, as compared with SNP stable expression cell lines, to activate the cell cycle, it was revealed to increase the cell proliferation ability. Therefore, CDK3 gene p204s mutation was found to be a cause of tumor onset of Multiple endocrine neoplasia type 1.
|
| Free Research Field |
内分泌代謝内科学
|
