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Functional analysis of monocarboxylate transporter 8 mutations identified in patients with X-linked psychomotor retardation and elevated serum triiodothyronine

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2007
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Jansen, Jurgen
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Functional analysis of monocarboxylate transporter 8 mutations identified in patients with X-linked psychomotor retardation and elevated serum triiodothyronine
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Author
  • Jansen, Jurgen;
  • Friesema, Edith C. H.;
  • Kester, Monique H. A.;
  • Milici, Carmelina;
  • Reeser, Maarten;
  • Grüeters, Annette;
  • Barrett, Timothy G.;
  • Mancilla Vergara, Edna;
  • Svensson, Johan;
  • Wemeau, Jean-Louis;
  • Busi da Silva Canalli, Maria Heloisa;
  • Lundgren, Johan;
  • McEntagart, Meriel E.;
  • Hopper, Neil;
  • Arts, Willem Frans;
  • Visser, Theo J.;
Abstract
Context: T-3 action in neurons is essential for brain development. Recent evidence indicates that monocarboxylate transporter 8 (MCT8) is important for neuronal T-3 uptake. Hemizygous mutations have been identified in the X-linked MCT8 gene in boys with severe psychomotor retardation and elevated serum T-3 levels. Objective: The objective of this study was to determine the functional consequences of MCT8 mutations regarding transport of T-3. Design: MCT8 function was studied in wild-type or mutant MCT8-transfected JEG3 cells by analyzing: 1) T-3 uptake, 2) T-3 metabolism in cells cotransfected with human type 3 deiodinase, 3) immunoblotting, and 4) immunocytochemistry. Results: The mutations identified in MCT8 comprise four deletions (24.5 kb, 2.4 kb, 14 bp, and 3 bp), three missense mutations (Ala224Val, Arg271His, and Leu471Pro), a nonsense mutation (Arg245stop), and a splice site mutation (94 amino acid deletion). All tested mutants were inactive in uptake and metabolism assays, except MCT8 Arg271His, which showed approximately 20% activity vs. wild-type MCT8. Conclusion: These findings support the hypothesis that the severe psychomotor retardation and elevated serum T-3 levels in these patients are caused by inactivation of the MCT8 transporter, preventing action and metabolism of T-3 in central neurons.
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URI: https://repositorio.uchile.cl/handle/2250/127460
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JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM Vol. 92 JUN 2007 6 2378-2381
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