The monocarboxylate transporter 8 linked to human psychomotor retardation is highly expressed in thyroid hormone-sensitive neuron populations

H Heuer, MK Maier, S Iden, J Mittag… - …, 2005 - academic.oup.com
H Heuer, MK Maier, S Iden, J Mittag, ECH Friesema, TJ Visser, K Bauer
Endocrinology, 2005academic.oup.com
Recent genetic analysis in several patients presenting a severe form of X-linked
psychomotor retardation combined with abnormal thyroid hormone (TH) levels have
revealed mutations or deletions in the gene of the monocarboxylate transporter 8 (MCT8).
Because in vitro MCT8 functions as a TH transporter, the complex clinical picture of these
patients indicated an important role for MCT8 in TH-dependent processes of brain
development. To provide a clue to the cellular function of MCT8 in brain, we studied the …
Abstract
Recent genetic analysis in several patients presenting a severe form of X-linked psychomotor retardation combined with abnormal thyroid hormone (TH) levels have revealed mutations or deletions in the gene of the monocarboxylate transporter 8 (MCT8). Because in vitro MCT8 functions as a TH transporter, the complex clinical picture of these patients indicated an important role for MCT8 in TH-dependent processes of brain development. To provide a clue to the cellular function of MCT8 in brain, we studied the expression of MCT8 mRNA in the murine central nervous system by in situ hybridization histochemistry. In addition to the choroid plexus structures, the highest transcript levels were found in neo- and allocortical regions (e.g. olfactory bulb, cerebral cortex, hippocampus, and amygdala), moderate signal intensities in striatum and cerebellum, and low levels in a few neuroendocrine nuclei. Colocalization studies revealed that MCT8 is predominantly expressed in neurons. Together with the spatiotemporal expression pattern of MCT8 during the perinatal period, these results strongly indicate that MCT8 plays an important role for proper central nervous system development by transporting TH into neurons as its main target cells.
Oxford University Press