title: MCT8: from gene to disease and therapeutic approach.
abstract: Thyroid hormone metabolism and action are largely intracellular processes that require transport of the hormone across the plasma membrane by different transporters. Two of these, MCT8 and MCT10, are close members of the monocarboxylate transporter family. MCT8 is expressed in a variety of tissues, including liver, kidney, thyroid and brain. The MCT8 gene is located on the X chromosome, and mutations in MCT8 result in severe psychomotor retardation and low serum T4 and high T3 levels in affected males. The psychomotor retardation is thought to be caused by impaired neuronal T3 uptake during brain development. The abnormal thyroid hormone levels appear to result from an increased T4 to T3 conversion in the kidney as well as altered hormone secretion from the thyroid gland. Options for therapy aim at early treatment with T3 analogues, neuronal uptake of which does not require MCT8.
authors.affiliation: Department of Internal Medicine, Erasmus MC, CA, Rotterdam, The Netherlands.
authors.forename: S
authors.initials: S
authors.lastname: Kersseboom
authors.forename: T J
authors.initials: TJ
authors.lastname: Visser
mesh_terms: D000595:Amino Acid Sequence; D026921:Amino Acid Transport Systems, Neutral / Q000235:genetics / Q000378:metabolism; D000818:Animals; D001921:Brain / Q000254:growth & development / Q000378:metabolism; D006801:Humans; D007668:Kidney / Q000378:metabolism; D008297:Male; D051379:Mice; D018345:Mice, Knockout; D008969:Molecular Sequence Data; D027501:Monocarboxylic Acid Transporters / Q000235:genetics* / Q000378:metabolism; D011596:Psychomotor Disorders / Q000097:blood / Q000188:drug therapy* / Q000235:genetics*; D012720:Severity of Illness Index; D012737:Sex Factors; D027981:Symporters; D013961:Thyroid Gland / Q000378:metabolism; D013974:Thyroxine / Q000097:blood; D014284:Triiodothyronine / Q000031:analogs & derivatives* / Q000097:blood
chemical_list: D026921:Amino Acid Transport Systems, Neutral; D027501:Monocarboxylic Acid Transporters; C498964:SLC16A10 protein, human; C090735:SLC16A2 protein, human; D027981:Symporters; D014284:Triiodothyronine; D013974:Thyroxine