Best Practice & Research Clinical Endocrinology & Metabolism
Volume 21, Issue 2 , Pages 307-321 , June 2007

The MCT8 thyroid hormone transporter and Allan–Herndon–Dudley syndrome

  • Charles E. Schwartz, PhD (Director of Research)

      Affiliations

    • Corresponding Author InformationCorresponding author. JC Self Research Institute of Human Genetics, Greenwood Genetic Center, 113 Gregor Mendel Circle, Greenwood, South Carolina, USA. Tel.: +1 864 941 8140; Fax: +1 864 388 1707.
    • ,
  • Roger E. Stevenson, MD (Director)

References 

  1. Morreale de Escobar G, Obregon MJ, Escobar del Rey F. Role of thyroid hormone during early brain development. European Journal of Endocrinology. 2004;151(supplement 3):U25–U37
  2. Bianco AC, Salvatore D, Gereben B, et al. Biochemistry, cellular and molecular biology, and physiological roles of iodothyronine selenodeiodinases. Endocrine Reviews. 2002;23:38–89
  3. Hennemann G, Docter R, Friesema EC, et al. Plasma membrane transport of thyroid hormones and its role in thyroid hormone metabolism and bioavailability. Endocrine Reviews. 2001;22:451–476
  4. Friesema EC, Ganguly S, Abdalla A, et al. Identification of monocarboxylate transporter 8 as a specific thyroid hormone transporter 8 as a specific thyroid hormone transporter. The Journal of Biological Chemistry. 2003;278:40126–40135
  5. Fliers E, Alkemade A, Wiersinga WM, et al. Hypothalamic thyroid hormone feedback in health and disease. Progress in Brain Research. 153. 2006;189–207
  6. Tu HM, Kim SW, Salvatore D, et al. Regional distribution of type 2 thyroxine deiodinases messenger ribonucleic acid in rat hypothalamus and pituitary and its regulation by thyroid hormone. Endocrinology. 1997;138(8):3359–3368
  7. Guadano-Ferraz A, Obregon MJ, St Germain DL, et al. The type 2 iodothyronine deiodinase is expressed primarily in glial cells in the neonatal rat brain. Proceedings of the National Academy of Sciences of the United States of America. 1997;94(19):10391–10396
  8. Diano S, Leonard JL, Meli R, et al. Hypothalamic type II iodothyronine deiodinase: a light and electron microscopic study. Brain Research. 2003;976(1):130–134
  9. Lafreniere RG, Carrel L, Willard HF. A novel transmembrane transporter encoged by the XPCT gene in Xq13.2. Human Molecular Genetics. 1994;3:1133–1139
  10. Dumitrescu AM, Liao XH, Best TB, et al. A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. American Journal of Human Genetics. 2004;74:168–175
  11. Friesema EC, Grueters A, Biebermann H, et al. Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation. Lancet. 2004;364:1435–1437
  12. Allan W, Herndon CN, Dudley FC, et al. Some examples of the inheritance of mental deficiency: apparently sex-linked idiocy and microcephaly. American Journal of Mental Deficiency. 1944;48:325–334
  13. Schwartz CE, Ulmer J, Brown A, et al. Allan-Herndon syndrome. II. Linkage to DNA Markers in Xq21. American Journal of Human Genetics. 1990;47:454–458
  14. Bialer MG, Lawrence L, Stevenson RE, et al. Allan-Herndon-Dudley syndrome: clinical and linkage studies on a second family. American Journal of Medical Genetics. 1992;43:491–497
  15. Zorick TS, Kleimann S, Sertie A, et al. Fine mapping and clinical reevaluation of a Brazilian pedigree with a severe form of X-linked mental retardation associated with other neurological dysfunction. American Journal of Medical Genetics. Part A. 2004;127:321–323
  16. Lenzner S, Rosenkranz MD, Grueters A, et al. Severe X-linked mental retardation caused by mutations in the gene for the thyroid hormone transporter MCT8 (abstract C32). In: European Human Genetics Conference: 2004 June 12–15; Munich. 2004;
  17. Schwartz CE, May MM, Carpenter NJ, et al. Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene. American Journal of Human Genetics. 2005;77:41–53
  18. Martin JP, Bell J. A pedigree of mental defect showing sex linkage. Journal of Neurology and Psychiatry. 1943;6:154–157
  19. Holden KR, Zuniga OF, May MM, et al. X-linked MCT8 gene mutations: characterization of the pediatric neurologic phenotype. Journal of Child Neurology. 2005;20(10):852–857
  20. Maranduba CM, Friesema EC, Kok F, et al. Decreased cellular uptake and metabolism in Allan–Herndon–Dudley syndrome (AHDS) due to a novel mutation in the MCT8 thyroid hormone transporter. Journal of Medical Genetics. 2006;43(5):457–460
  21. Herzovich V, Vaiani E, Marino R, et al. Unexpected peripheral markers of thyroid function in a patient with a novel mutation of the MCT8 thyroid hormone transporter gene. Hormone Research. 2006;67(1):1–6
  22. Kakinuma H, Itoh M, Takahashi H. A novel mutation in the monocarboxylate transporter 8 gene in a boy with putamen lesions and low free T4 levels in cerebrospinal fluid. The Journal of Pediatrics. 2005;147(4):552–554
  23. Stevenson RE, Goodman HO, Schwartz CE, et al. Allan-Herndon Syndrome. I. Clinical Studies. American Journal Human Genetics. 1990;47:446–453
  24. Friesema EC, Jansen J, Heuer H, et al. Mechanisms of disease: psychomotor retardation and high T3 levels caused by mutations in monocarboxylate transporter 8. Nature Clinical Practice. Endocrinology & Metabolism. 2006;2(9):512–523
  25. Pugeat M, Crave JC, Tourniaire J, et al. Clinical utility of sex hormone-binding globulin measurement. Hormone Research. 1996;45(3–5):148–155
  26. Doi J, Ohtsubo A, Ohtsuka A, et al. Triiodothyronine but not thyroxine accelerates myofibrillar proteolysis via ATP production in cultured muscle cells. Bioscience, Biotechnology, and Biochemistry. 2003;67(11):2451–2454
  27. Fukeri H, Taniguchi S, Ueta Y, et al. Enhanced activity of the purine nucleotide cycle of the exercising muscle in patients with hyperthyroidism. The Journal of Clinical Endocrinology and Metabolism. 2001;86(5):2205–2210
  28. Dumitrescu AM, Liao XH, Weiss RE, et al. Tissue-specific thyroid hormone deprivation and excess in monocarboxylate transporter (mct)8-deficient mice. Endocrinology. 2006;147(9):4036–4043

PII: S1521-690X(07)00028-0

doi: 10.1016/j.beem.2007.03.009

Best Practice & Research Clinical Endocrinology & Metabolism
Volume 21, Issue 2 , Pages 307-321 , June 2007

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