Stohn J Patrizia, Martinez M Elena, Matoin Kassey, Morte Beatriz, Bernal Juan, Galton Valerie Anne, St Germain Donald, Hernandez Arturo
Center of Molecular Medicine (J.P.S., M.E.M., K.M., D.S.G., A.H.), Maine Medical Center Research Institute, Scarborough, Maine 04074; Instituto de Investigaciones Biomedicas (B.M., J.B.), Consejo Superior de Investigaciones Científicas and Center for Biomedical Research on Rare Diseases, 28029 Madrid, Spain; and Department of Physiology and Neurobiology (V.A.G.), Geisel School of Medicine, Dartmouth College, Lebanon, New Hampshire 03756.
Endocrinology. 2016 Aug;157(8):3266-77. doi: 10.1210/en.2016-1162. Epub 2016 Jun 2.
Mice deficient in the type 3 deiodinase (D3KO mice) manifest impaired clearance of thyroid hormone (TH), leading to elevated levels of TH action during development. This alteration causes reduced neonatal viability, growth retardation, and central hypothyroidism. Here we examined how these phenotypes are affected by a deficiency in the monocarboxylate transporter 8 (MCT8), which is a major contributor to the transport of the active thyroid hormone, T3, into the cell. MCT8 deficiency eliminated the neonatal lethality of type 3 deiodinase (D3)-deficient mice and significantly ameliorated their growth retardation. Double-mutant newborn mice exhibited similar peripheral thyrotoxicosis and increased brain expression of T3-dependent genes as mice with D3 deficiency only. Later in neonatal life and adulthood, double-mutant mice manifested central and peripheral TH status similar to mice with single MCT8 deficiency, with low serum T4, elevated serum TSH and T3, and decreased T3-dependent gene expression in the hypothalamus. In double-mutant adult mice, both thyroid gland size and the hypothyroidism-induced rise in TSH were greater than those in mice with single D3 deficiency but less than those in mice with MCT8 deficiency alone. Our results demonstrate that the marked phenotypic abnormalities observed in the D3-deficient mouse, including perinatal mortality, growth retardation, and central hypothyroidism in adult animals, require expression of MCT8, confirming the interdependent relationship between the TH transport into cells and the deiodination processes.
缺乏3型脱碘酶的小鼠(D3KO小鼠)表现出甲状腺激素(TH)清除受损,导致发育过程中TH作用水平升高。这种改变导致新生儿存活率降低、生长发育迟缓以及中枢性甲状腺功能减退。在此,我们研究了单羧酸转运体8(MCT8)缺乏如何影响这些表型,MCT8是活性甲状腺激素T3进入细胞的主要转运体。MCT8缺乏消除了3型脱碘酶(D3)缺陷小鼠的新生儿致死性,并显著改善了它们的生长发育迟缓。双突变新生小鼠表现出与仅D3缺陷小鼠相似的外周甲状腺毒症和T3依赖基因的脑内表达增加。在新生儿后期和成年期,双突变小鼠表现出与单MCT8缺陷小鼠相似的中枢和外周TH状态,血清T4水平低,血清促甲状腺激素(TSH)和T3水平升高,下丘脑T3依赖基因表达降低。在双突变成年小鼠中,甲状腺大小和甲状腺功能减退引起的TSH升高均大于单D3缺陷小鼠,但小于仅MCT8缺陷小鼠。我们的结果表明,在D3缺陷小鼠中观察到的明显表型异常,包括围产期死亡率、生长发育迟缓和成年动物的中枢性甲状腺功能减退,需要MCT8的表达,证实了TH进入细胞与脱碘过程之间的相互依存关系。