Shiao Y Chan, Laura A Hancox, Azucena Martı´n-Santos, Laurence S Loubie`re, Merlin N M Walter, Ana-Maria Gonza´lez, Phillip M Cox, Ann Logan, Christopher J McCabe, Jayne A Franklyn and Mark D Kilby Abstract: The importance of the thyroid hormone (TH) transporter, monocarboxylate transporter 8 (MCT8), to human neurodevelopment is highlighted by findings of severe global […]
Juan Bernal, Ana Guadaño-Ferraz and Beatriz Morte Abstract: The cellular influx and efflux of thyroid hormones are facilitated by transmembrane protein transporters. Of these transporters, monocarboxylate transporter 8 (MCT8) is the only one specific for the transport of thyroid hormones and some of their derivatives. Mutations in SLC16A2, the gene that encodes MCT8, lead to […]
Doreen Braun, Ulrich Schweizer Abstract: Monocarboxylate transporter 8 (MCT8) is a thyroid hormone transmembrane transporter expressed in many cell types, including neurons. Mutations which inactivate transport activity of MCT8 cause severe X-linked psychomotor retardation in male patients, a syndrome originally described as the Allan-Herndon-Dudley syndrome. Treatment options currently explored focus on finding thyroid hormone-like compounds […]
Maria Gisele Matheus, MD, Rebecca K. Lehman, MD, Leonardo Bonilha, MD, PhD, and Kenton R. Holden, MD Abstract: X-linked monocarboxylate transporter 8 (MCT8) deficiency results from a loss-of-function mutation in the monocarboxylatetransporter 8 gene, located on chromosome Xq13.2 (Allan-Herndon-Dudley syndrome). Affected boys present early in life withneurodevelopment delays but have pleasant dispositions and commonly have […]
Eva K. Wirth, Eddy Rijntjes, Franziska Meyer, Josef Köhrle, Ulrich Schweizer Abstract: Background:The Allan-Herndon-Dudley syndrome is a severe psychomotor retardation accompanied by specific changes in circulating thyroid hormone levels (high T3, low T4). These are caused by mutations in the thyroid hormone transmembrane transport proteinmonocarboxylate transporter 8 (MCT8).Objective:To test the hypothesis that circulating low T4 […]
Christine M. Armour, Simone Kersseboom, Grace Yoon, Theo J. Visser Abstract: BackgroundMutations in the thyroid hormone (TH) transporter MCT8 have been identified as the cause for Allan-Herndon-Dudley Syndrome (AHDS), characterized by severe psychomotor retardation and altered TH serum levels. Here we report a novel MCT8 mutation identified in 4 generations of one family, and its […]
David Kremer, Peter Göttle, Hans-Peter Hartung, and Patrick Küry Abstract: The evolutionary acquisition of myelin sheaths around large caliber axons in the central nervous system (CNS) represented a milestone in the development of vertebrate higher brain function. Myelin ensheathment of axons enabled salta-tory conduction and thus accelerated information processing. However, a number of CNS diseases […]
Hideyuki Iwayama, M.D., Ph.D., Xiao-Hui Liao, B.S., Lyndsey Braun, B.S., Soledad Bárez-López, M.S., Brian Kaspar, Ph.D., Roy E Weiss, M.D., Ph.D. Alexandra M Dumitrescu, M.D., Ph.D., Ana Guadaño-Ferraz, Ph.D. and Samuel Refetoff, M.D., C.M. Abstract: Background:MCT8 gene mutations produce thyroid hormone (TH) deficiency in the brain, causing severe neuropsychomotor abnormalities not correctable by treatment with […]
David Zada, Adi Tovin, Tali Lerer-Goldshtein and Lior Appelbaum Abstract: Hypomyelination is a key symptom of the Allan-Herndon-Dudley syndrome (AHDS), a psychomotor retardation associated with mutations in the thyroid-hormone (TH) transporter MCT8. AHDS is characterized by severe intellectual deficiency, neuromuscular impairment, and brain hypothyroidism. In order to understand the mechanism for TH-dependent hypomyelination, we developed […]
W. Edward Visser, Heike Heuer, Theo J. Visser Abstract: The Allan-Herndon-Dudley syndrome (AHDS) is caused by a defect in the thyroid hormone (TH) transporter MCT8 (1,2). The clinical phenotype comprises a “central” component due to impaired psychomotor development with severe intellectual disability, axial hypotonia and dystonia, and a ‘’peripheral’’ component dominated by signs of thyrotoxicosis, […]