2013 Fiscal Year Final Research Report
Prevalence, clinical manifestation, and molecular mechanism of congenital hypothyroidism due to DUOX2 abnormality
| Project/Area Number |
23591517
|
|---|
| Research Category |
Grant-in-Aid for Scientific Research (C)
|
| Allocation Type | Multi-year Fund |
|---|
| Section | 一般 |
|---|
| Research Field |
Pediatrics
|
|---|
| Research Institution | Keio University |
|---|
Principal Investigator |
|
|---|
| Co-Investigator(Renkei-kenkyūsha) |
NARUMI Satoshi 慶應義塾大学, 医学部, 特任助教 (40365317)
|
|---|
| Project Period (FY) |
2011 – 2013
|
| Keywords | 先天性甲状腺機能低下症 / DUOX2 / 有病率 / 機能解析 / 環境因子 / TSHR / 分子機能 |
|---|
| Research Abstract |
The prevalence of congenital hypothyroidism (CH) due to biallelic DUOX2 mutations is 1/44,000 in Japan. In CH, the prevalence of biallelic DUOX2 mutations is 8/102 (7.8%).The inheritance mode of biallelic DUOX2 mutations is autosomal recessive. CH due to biallelic DUOX2 mutations has some characteristics as follows: It is permanent, transient, or late-onset. Clinical findings in neonatal period are severe, while they improve by the age of 2 years. Environmental factors such as maternal iodine exposure can affect clinical findings. Biochemical study does not always show defects of iodine organization. In contrast, monoallelic DUOX2 mutation rarely (<1%) develops CH. The inheritance mode of CH related to monoallelic DUOX2 mutation is multifactorial. 3.7 % of subjects having both monoallelic DUOX2 mutation and monoallelic TSHR mutation develop CH.
I have established in vitro assay to characterize function of wild or mutant DUOX2 molecule.
|
-
-
-
-
-
-
-
-
-
[Presentation] Monoallelic mutations in TSHR and DUOX2 do not act as single Mendelian factors but as risk factors for congenital hypothyroidism : Pathway burden hypothesis2013
Author(s)
Abe K. Narumi S, Amano N, Ishii T, Muroya K, Asakura Y, Adachi M, Sasaki G, Nagasaki K, Abe T, Hasegawa T.
Organizer
9th Joint Meeting of Paediatric Endocrinology ESPE–PES–APEG–APPES–ASPAE–JSPE–SLEP
Place of Presentation
Milan,Italy
Year and Date
20130919-22
-
-
-
-
-
-
-
-
-
-
-
