Page 54 - CIBERER-2015-eng

Research Groups
Group U708
Programme: Endocrine Medicine Lead Researcher: Bernal, Juan
Group members
STAFF MEMBERS: Morte Molina, Beatriz.
ASSOCIATED MEMBERS: Bárez López, Soledad | Gil Ibáñez, Pilar | Guadaño Ferraz, Ana Cristina | Martín
Belinchón, Mónica.
Main lines of research
• CONGENITAL HYPOTHYRODISM: Mechanisms of action of the thyroid hormone in the brain. Physi- opathology of neural alterations over thyroid hor- mone deprivation during the fetal and neonatal periods. Influence of maternal thyroid hormones and consequences of maternal hypotiroxinemia over gene expression in the fetal brain.
• SLC16A2 MUTATIONS: Physiopathology of the Al- lan-Herndon-Dudley syndrome and deficiency of T3 transport in the syndrome using transporter knock out mice. Development of new therapeutic
approaches based on thyroid hormone analogues with alternative transport. Histopathological stud- ies from MCT8-deficient human brains. Study of patients with MCT8-like syndromes but without SLC16A2 mutations.
• THYROID HORMONE RESISTANCE: Alteration mechanisms in mental retardation and attention deficit- hyperactivity disorder as a consequence of beta type T3 receptor mutations.
54 I Annual report 2015 I CIBERER