Absence of primary hypothyroidism and goiter in Slc26a4 (-/-) mice fed on a low iodine diet
Absence of primary hypothyroidism and goiter in Slc26a4 (-/-) mice fed on a low iodine diet
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DOI：
10.3275/7262
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发表时间：
2011-09-01
影响因子：
5.4
通讯作者：
Persani, L.
中科院分区：
文献类型：
--
作者：
Calebiro, D.;Porazzi, P.;Persani, L.
背景资料：编码阴离子转运蛋白pendrin的SLC 26 A4基因突变导致Pendred综合征，其特征为先天性感音神经性耳聋和激素异常性甲状腺肿。pendrin在甲状腺中的生理作用尚不清楚，在一些SLC 26 A4突变患者和Slc 26 a4（-/-）小鼠中缺乏甲状腺表型表明存在能够补偿甲状腺中pendrin失活的环境或个体修饰剂。由于pendrin可以在体外转运碘，碘供应的变化被认为是与pendrin缺陷相关的甲状腺表型的原因。目的：使用Slc 26 a4（-/-）小鼠模型来检验碘供应可能影响SLC 26 A4突变的表达率和表达率的假设。材料与方法：用标准或低碘饮食喂养Slc 26 a4（-/-）和（+/+）小鼠长达6个月，并评价其甲状腺结构异常或生化甲状腺功能减退症。结果如下：在标准条件下和碘限制期间，27倍碘限制诱导了甲状腺组织学的类似改变，但在Slc 26 a4（-/-）和（+/+）小鼠之间未观察到甲状腺大小、1-4或TSH水平的差异。结论：碘限制不能诱导Slc 26 a4（-/-）小鼠甲状腺表型。这些实验数据，连同那些来自家庭的Pendred病例离开低或足够的碘供应的地区的审查，支持的想法，在Pendred综合征的甲状腺表型的表达是更有力的影响个体因素比饮食碘。(J.年. Invest. 34：593-598，2011）（C）2011，Editrice Kurtis
Background: Mutations in the SLC26A4 gene, coding for the anion transporter pendrin, are responsible for Pendred syndrome, characterized by congenital sensorineural deafness and dyshormonogenic goiter. The physiological role of pendrin in the thyroid is still unclear and the lack of a thyroid phenotype in some patients with SLC26A4 mutations and in Slc26a4(-/-) mice indicate the existence of environmental or individual modifiers able to compensate for pendrin inactivation in the thyroid. Since pendrin can transport iodide in vitro, variations in iodide supply have been claimed to account for the thyroid phenotype associated with pendrin defects. Aim: The Slc26a4 (-/-) mouse model was used to test the hypothesis that iodide supply may influence the penetrance and expressivity of SLC26A4 mutations. Materials and methods: Slc26a4 (-/-) and (+/+) mice were fed up to 6 months on a standard or low iodine diet and were evaluated for thyroid structural abnormalities or biochemical hypothyroidism. Results: A 27-fold iodide restriction induced similar modifications in thyroid histology, but no differences in thyroid size, 1-4 or TSH levels were observed between between Slc26a4 (-/-) and (+/+) mice, either in standard conditions and during iodine restriction. Conclusions: Iodide restriction is not able to induce a thyroid phenotype in Slc26a4 (-/-) mice. These experimental data, together with those coming from a review of familial Pendred cases leaving in regions either with low or sufficient iodide supply, support the idea that the expression of thyroid phenotype in Pendred syndrome is more powerfully influenced by individual factors than by dietary iodide. (J. Endocrinol. Invest. 34: 593-598, 2011) (C) 2011, Editrice Kurtis