Endocrine Abstracts

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...

Objective: The increasing incidence of obesity is a major health problem world-wide. So far, mutations were identified in genes encoding major contributors in energy homeostasis. With the exception of mutations in the melanocortin-4-receptor gene (MC4R) obesity-causing mutations are very rare. To date great efforts were undertaken to identify gene variants that contribute to polygenic obesity. The GIPR belongs to the large superfamily of G-protein coupled recepto...