Morphological and Functional Colonic Defects Caused by a Mutated Thyroid Hormone Receptor α.

ABSTRACT: Background: Mutations of thyroid hormone receptor α (TRα1) result in resistance to thyroid hormone (RTHα), exhibiting symptoms of retarded growth, delayed bone maturation, anemia, and severe constipation. Using a mouse model of RTHα (Thra1^PV/+ mouse), we aimed at understanding the molecular basis underlying the severe constipation observed in patients. Methods: The Thra1^PV/+ mouse expresses a strong dominant negative mutant, PV, which has lost T3 binding and transcription activity. Thra1^PV/+ mouse faithfully reproduces growth abnormalities and anemia as shown in RTHα patients and therefore is a valid model to examine causes of severe constipation in patients. We used histopathological analysis, confocal fluor

SUBMITTER: Kim M 

PROVIDER: S-EPMC10081711 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature