2021 Fiscal Year Final Research Report
Molecular mechanism of transient neonatal hyperparathyroidism caused by TRPV6 variants
Project/Area Number |
19K07296
|
Research Category |
Grant-in-Aid for Scientific Research (C)
|
Allocation Type | Multi-year Fund |
Section | 一般 |
Review Section |
Basic Section 48020:Physiology-related
|
Research Institution | Iwate Medical University |
Principal Investigator |
|
Project Period (FY) |
2019-04-01 – 2022-03-31
|
Keywords | TRPチャネル / カルシウム恒常性 / 胎盤 / 新生児副甲状腺機能亢進症 |
Outline of Final Research Achievements |
Calcium (Ca2+) has numerous physiological functions. Therefore, its level of extracellular fluid is maintained within a narrow range. In fetus, moreover, large amount of Ca2+ is needed because fetal bone has to be mineralized during development. Mutation of the gene encoding a Ca2+ channel TRPV6 have been found from patients with transient neonatal hyperparathyroidism. However, its molecular mechanism of disease has not been understood. In this project, by using immunocytochemistry and Western blotting, I showed that several TRPV6 variants did not go into the Golgi but stay at the ER. This suggests that TRPV6 mutants induce an ER stress which might cause tissue damage resulting in an impaired Ca2+ transport.
|
Free Research Field |
生理学
|
Academic Significance and Societal Importance of the Research Achievements |
本研究によってカルシウム関連疾患の発症機序の一端が明らかになった。このことは同疾患の根治のための足がかりとなるとともに、疾患の迅速な診断および治療方針の決定に貢献する。また、将来的には母体ビタミンD3補充等によって同疾患の予防にもつながることが期待できる。さらに骨粗鬆症など他のカルシウム関連疾患や、カルシウム輸送障害が原因と思われていなかった他の疾患の原因解明にもつながる。
|