In vivo Functional Consequences of Human THRA Variants Expressed in the Zebrafish.

摘要: Background: Heterozygous mutations in the thyroid hormone receptor alpha (THRA) gene cause resistance to (RTHα), a disease characterized by variable manifestations reminiscent of untreated congenital hypothyroidism but raised triiodothyronine/thyroxine ratio and normal thyrotropin levels. It was recently described that zebrafish embryos expressing dominant negative (DN) form thraa recapitulate key features RTHα, human receptors are functionally interchangeable. Methods: This study expressed several (hTRα) variants analyzed resulting phenotypes. Results: All hTRα-injected showed defects, including cerebral cardiac edema likely caused an aberrant looping during heart development, anemia, incomplete formation vascular network. Moreover, presented severe defects motorneurons craniofacial thus affecting t...