Searchable abstracts of presentations at key conferences in endocrinology

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...