Pre- and postnatal disturbances of cerebral thyroid hormone levels result in neurodevelopmental
deficits. Mutations in the cerebral T3 transporter MCT8 lead to severe X-linked mental
retardation, the Allan-Herndon-Dudley syndrome. Because of functional redundancy among
neuronal T3 transporters in the mouse, we will investigate the role of Lat2 as a neuronal T3
transporter besides Mct8. We also aim to specifically investigate the T3-dependent genetic
program of cerebral interneuron maturation, since development of GABAergic interneurons is
impaired in hypothyroidism. Patients with dysfunctional thyroid glands identified during
perinatal screening and treated with thyroid hormone will be investigated for persistent changes
in interneuron function.
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