Analysis of pathogenesis mechanism and development of new treatment in bone marrow failure due to mutation of telomere regulated genes.
Project/Area Number |
19591141
|
Research Category |
Grant-in-Aid for Scientific Research (C)
|
Allocation Type | Single-year Grants |
Section | 一般 |
Research Field |
Hematology
|
Research Institution | Nippon Medical School |
Principal Investigator |
YAMAGUCHI Hiroki Nippon Medical School, 医学部, 助教 (90297937)
|
Project Period (FY) |
2007 – 2008
|
Project Status |
Completed (Fiscal Year 2008)
|
Budget Amount *help |
¥4,550,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥1,050,000)
Fiscal Year 2008: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2007: ¥3,380,000 (Direct Cost: ¥2,600,000、Indirect Cost: ¥780,000)
|
Keywords | Dyskeratosis congenita / human telomerase RNA gene / Telomerase reverse transcriptase subunit gene / SBDS gene / TINF2 gene / Mutation / Telomere length / Bone marrow failure / Born marrow failure / telomerase reverse transcriptase subunit gene / telomere length / mutation / polymorphisms |
Research Abstract |
テロメラーゼ複合体を構成するTERCやTERTなどの変異が再生不良性貧血(AA)などの骨髄不全症(BMF)の約3%に存在する。これらの変異の多くは、haploinsufficiency効果によりテロメラーゼ活性を障害しBMFを発症させる。そこで本邦の成人BMF120人におけるテロメア制御遺伝子変異の検索を行った。結果はTERCの変異を1例、Shelterin複合体を構成するTINF2の変異を3例発見した。本邦におけるテロメア制御遺伝子変異をもつBMFの存在を明らかにした。
|
Report
(3 results)
Research Products
(8 results)
-
[Journal Article] Identification and functional characterization of novel telomerase variant alleles in Japanese patients with bone-marrow failure syndromes2008
Author(s)
Takeuchi J, Ly H, Yamaguchi H, Carroll KA, Kosaka F, Sawaguchi K, Mitamura Y, Watanabe A, Gomi S, Inokuchi K, Dan K
-
Journal Title
Blood Cells Mol Dis. 40 (2)
Pages: 185-91
Related Report
-
-
-
-
-
-
-