Searchable abstracts of presentations at key conferences in endocrinology

ea0020oc5.1 | Thyroid: Basic and Clinical | ECE2009

Neurological and behavioral phenotypes in mice lacking Mct8-mediated neuronal T3 uptake

Schweizer Ulrich , Wirth Eva , Roth Stephan , Kohrle Josef , Gruters Annette

Thyroid hormone transport into cells critically depends on plasma membrane transport proteins. One of these, monocarboxylate transporter 8 (MCT8), is mutated in patients suffering from a form of X-linked mental retardation, the Allan-Herndon-Dudley syndrome. These patients are characterized by abnormal thyroid hormone and TSH plasma levels indicating a role for MCT8 in the regulation of the thyroid hormone axis. Mice lacking the Mct8 gene replicate the thyroid hormone a...

ea0020p573 | Neuroendocrinology, Pituitary and Behaviour | ECE2009

Transport activities and plasma membrane localization of MCT8 mutant proteins identified in patients with severe psychomotor retardation depend on cell type. Implications for the interpretation of clinical phenotypes

Kinne Anita , Roth Stephan , Schweizer Ulrich , Kohrle Joseph

Objective: Mutations in the gene encoding the thyroid hormone transport protein, monocarboxylate transporter 8 (MCT8), underlie severe mental retardation. In vitro expression of mutant transporters was performed to understand phenotypical differences.Methods: We established cell lines stably expressing 16 MCT8 variants in JEG1 and MDCK cells. Several of these mutants have never been analysed before. The cell lines were characterized according to M...

ea0016p708 | Thyroid | ECE2008

Phenotypic profiling of MCT8 deficient mice

Wirth Eva Katrin , Roth Stephan , Ambrugger Petra , Biebermann Heike , Kohrle Josef , Gruters-Kieslich Annette , Schweizer Ulrich

Thyroid hormones are essential for the proper development of a variety of tissues, especially the nervous system. Their transport into target cells is mediated by specific thyroid hormone transporters like the monocarboxylate transporter 8 (MCT8). Mutations in this X-chromosomal gene in humans lead to a severe phenotype characterized by psychomotor retardation, hypotonia, and a striking derangement of serum thyroid hormone levels: high T3 in the presence of low T4, and no sign...