Group Molecular Thyroidology

Thyroid hormones (TH) are not only essential for normal brain development, but also influence the metabolism and function of nearly every cell in the body. To exert their function, TH require transporters, which are located in the cell membrane and mediate the cellular uptake and efflux of TH. A main focus of our research group is to elucidate the exact physiological as well as pathophysiological function of TH transporters of which MCT8 is the most prominent example.

TH transporter MCT8 and Allan-Herndon-Dudley syndrome

MCT8 is a highly specific and physiologically important TH transporter in the brain and peripheral organs. Patients with MCT8 deficiency (also known as Allan-Herndon-Dudley syndrome (AHDS)) show cognitive impairments and suffer from severe neurological and motor symptoms. Moreover, MCT8 deficiency leads to abnormal SDH parameters and peripheral symptoms that indicate a thyrotoxic situation in various organs (heart, liver, kidney, muscle, adipose tissue).

To elucidate the pathogenic events underlying this rare disease, our group studies global and organ-specific mouse models in order to define the exact cell-specific function of MCT8 and other transporters. Moreover, by taking advantage of AHDS mouse models we conduct preclinical studies in order to develop therapeutic strategies for AHDS patients.