Endocrine Abstracts

Patients with inactivating mutations in MCT8, known as Allan-Herndon-Dudley syndrome (AHDS), present a severe form of psychomotor retardation and, frequently, epileptic seizures of unknown etiology. These neurological symptoms are thought to arise due to an impaired transport of thyroid hormones (TH) across the blood brain barrier and/or into the neural cells. As a consequence of species-specific differences in the expression of the T4-specific organic anion transporter polype...

Inactivating mutations in highly specific thyroid hormone (TH) transporter MCT8 result in a severe form of psychomotor retardation characterized by neurological impairments and frequent epileptic seizures of unknown etiology. These symptoms are thought to be a consequence of impaired central TH uptake across brain barriers and/or into neural cells. Mct8/Organic anion transporting polypeptide 1c1 double knockout (M/O-dKO) mice replicate characteristics of human MCT8 deficiency....