Hormonas tiroideas y sistema nervioso central

Syndromes of reduced sensitivity or  resistance to thyroid hormone are a group of rare diseases characterized by high levels of circulating thyroid hormone, as opposed to reduced peripheral effects. Among these syndromes are the Allan-Herndon-Dudley syndrome that appears as a consequence of mutations in the SLC16A2 gene that codifies the monocarboxylate transporter 8 (MCT8, a specific transmembrane transporter for thyroid hormones) and also the syndrome of SBP2 Deficiency, a thyroid hormone metabolism defect due to mutations in the SBP2 gene that codifies the SECIS-binding protein 2 (SBP2, a key protein required for the synthesis of selenoproteins, including thyroid hormone deiodinases).

These syndromes are orphan diseases as currently there are no effective treatments for the neurological symptoms of the patients. We are interested in understanding the neuropathology of these syndromes using biochemical, histological and molecular approaches in order to open new opportunities for the development of novel therapeutic strategies.