Establishment of the disease concept of congenital hypothyroidism by a novel iodine transporter

2020 Fiscal Year Final Research Report

• Project/Area Number: 18K15723
• Research Category: Grant-in-Aid for Early-Career Scientists
• Allocation Type: Multi-year Fund
• Review Section: Basic Section 52050:Embryonic medicine and pediatrics-related
• 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)
• Project Period (FY): 2018-04-01 – 2021-03-31
• 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.

Free Research Field

小児内分泌

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。