title: Inherited defects of thyroid hormone-cell-membrane transport: review of recent findings.
abstract: OBJECTIVE
  This review summarizes the most significant findings over the last year regarding human and animal models deficient in thyroid hormone cell-membrane transporters (THCMTs). Although several THCMTs have been modelled in genetically engineered mice, the only THCMT defect known in humans is that caused by mutations in the monocarboxylate transporter 8 (MCT8) gene.
  
  
  RESULTS
  The importance of several amino acid residues has been assessed in vitro to further our understanding on the structure-function of the MCT8. The administration of the thyromimetic compound, diiodothyropropionic acid, has been tested in patients with MCT8 gene mutations, following studies of its use in mice. Another thyroid hormone analogue, 3,3',5,5'-tetraiodothyroacetic acid, was tested in Mct8-deficient mice. The phenotypes of L-type aminoacid transporter 2 and organic anion transporting polypeptide 1C1 deficiencies have been studied in mouse models. Mct8/organic anion transporting polypeptide 1C1 double knockout mice have been shown to manifest neurodevelopmental deficits. Zebrafish is emerging as another vertebrate model that may be useful to study the role of Mct8 in brain development.
  
  
  CONCLUSIONS
  Studies on the pathogenesis and therapy of MCT8 deficiency are in progress, and new vertebrate models that are suitable to study the neurological consequences of the syndrome are being explored.
authors: Department of Medicine, The University of Chicago, Chicago, Illinois 60637, USA.
authors: Jiao
authors: J
authors: Fu
authors: Samuel
authors: S
authors: Refetoff
authors: Alexandra M
authors: AM
authors: Dumitrescu
mesh_terms: D027182:Amino Acid Transport System y+ / Q000235:genetics / Q000378:metabolism; D000818:Animals; D001692:Biological Transport / Q000235:genetics; D002462:Cell Membrane / Q000378:metabolism*; D027301:Fusion Regulatory Protein 1, Light Chains / Q000235:genetics / Q000378:metabolism; D006801:Humans; D026901:Membrane Transport Proteins / Q000235:genetics* / Q000378:metabolism*; D051379:Mice; D018345:Mice, Knockout; D027501:Monocarboxylic Acid Transporters / Q000235:genetics / Q000378:metabolism; D027361:Organic Anion Transporters / Q000235:genetics / Q000378:metabolism; D027981:Symporters; D013963:Thyroid Hormones / Q000378:metabolism*; D015027:Zebrafish
chemical_list: D027182:Amino Acid Transport System y+; D027301:Fusion Regulatory Protein 1, Light Chains; D026901:Membrane Transport Proteins; D027501:Monocarboxylic Acid Transporters; D027361:Organic Anion Transporters; C090735:SLC16A2 protein, human; C420646:SLC7A8 protein, human; C473187:SLCO1C1 protein, human; D027981:Symporters; D013963:Thyroid Hormones
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