Establishment of the disease concept of congenital hypothyroidism by a novel iodine transporter
Project/Area Number |
18K15723
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Research Category |
Grant-in-Aid for Early-Career Scientists
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Allocation Type | Multi-year Fund |
Review Section |
Basic Section 52050:Embryonic medicine and pediatrics-related
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Research Institution | Nagoya City University |
Principal Investigator |
Aoyama Kohei 名古屋市立大学, 医薬学総合研究院(医学), 助教 (40812095)
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Project Period (FY) |
2018-04-01 – 2021-03-31
|
Project Status |
Completed (Fiscal Year 2020)
|
Budget Amount *help |
¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000)
Fiscal Year 2019: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2018: ¥2,860,000 (Direct Cost: ¥2,200,000、Indirect Cost: ¥660,000)
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Keywords | SLC26A7 / ヨードトランスポーター / 先天性甲状腺機能低下症 |
Outline of Final Research Achievements |
Iodine is an essential element for the production of thyroid hormones. We have identified a homozygous loss-of-function mutation in the SLC26A7 gene in a family with thyroid hormone synthesis disorder. Immunostaining of thyroid tissue from normal subjects showed that SLC26A7 protein was expressed predominantly in the luminal side of thyroid follicular cells. Evaluation of the iodine transport capacity of SLC26A7 protein in mammalian cells showed that iodine transport was concentration-dependent. In addition, the introduction of patient mutations significantly reduced iodine transport capacity using iodine-sensitive YFP mutants. These results indicate that abnormalities in the SLC26A7 gene, a novel iodine transporter, result in congenital hypothyroidism.
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Academic Significance and Societal Importance of the Research Achievements |
甲状腺の材料であるヨードがどのように甲状腺内に取り込まれるかについて、これまでその全容は明かされていなかった。我々がヨードトランスポーターとしての役割を証明したSLC26A7遺伝子の発見により、ヨード取込機構の理解が格段に進んだ。 ヨード取込機構が明らになることで、ヨード取込異常による甲状腺機能低下症については、甲状腺ホルモン内服以外に、新たな戦略としてヨード摂取の増量による治療や予防が根拠をもって検討されうる。
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Report
(4 results)
Research Products
(3 results)
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[Presentation] 新規ヨードトランスポーターSLC26A7 遺伝子の両アレル機能喪失型変異は甲状腺腫を伴う先天性甲状腺機能低下症を引き起こす.2019
Author(s)
鈴木敦詞, 石井順, 吉田あや, 山口直哉, 田中達之, 青山幸平, 立山充博, 陳以珊, 久保義弘, 木村徹, 矢澤卓也, 有益優, 菅間博, 齋藤伸治, 水野晴夫.
Organizer
第53回日本小児内分泌学会学術集会
Related Report
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[Presentation] Homozygous loss-of-function mutation in the SLC26A7 gene coding a novel iodide transporter causes goitrous congenital hypothyroidism.2019
Author(s)
Atsushi Suzuki, Jun Ishii, Aya Yoshida, Naoya Yamguchi, Tatsushi Tanaka, Kohei Aoyama, Michihiro Tateyama, I-Shan Chen, Yoshihiro Kubo, Toru Kimura, Takuya Yazawa, Yu Arimasu, Hiroshi Kamma, Shinji Saitoh, Haruo Mizuno.
Organizer
The 58th Annual ESPE Meeting
Related Report