MCT8: From gene to disease and therapeutic approach;MCT8: Du gène à la maladie, une approche thérapeutique

Annales d'Endocrinologie

Volumn 72, Issue 2, 2011, Pages 77-81

  Kersseboom, S ^a   Visser, T J ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

Allan Herndon Dudley syndrome; MCT8; Psychomotor retardation; T3; Thyroid hormone transporters

Indexed keywords

CARRIER PROTEIN; LIOTHYRONINE; MONOCARBOXYLATE TRANSPORTER 10; MONOCARBOXYLATE TRANSPORTER 8; TETRAIODOTHYROACETIC ACID; THYROID HORMONE; THYROID HORMONE DERIVATIVE; THYROXINE; TIRATRICOL; UNCLASSIFIED DRUG;

ALLAN HERNDON DUDLEY SYNDROME; ARTICLE; CELL MEMBRANE; DRUG EFFECT; GENE; GENE MUTATION; HORMONE SUBSTITUTION; HORMONE TRANSPORT; HUMAN; LIOTHYRONINE BLOOD LEVEL; MCT8 GENE; NONHUMAN; PATHOPHYSIOLOGY; PROTEIN EXPRESSION; PSYCHOMOTOR RETARDATION; THYROID DISEASE; THYROXINE BLOOD LEVEL;

AMINO ACID SEQUENCE; AMINO ACID TRANSPORT SYSTEMS, NEUTRAL; ANIMALS; BRAIN; HUMANS; KIDNEY; MALE; MICE; MICE, KNOCKOUT; MOLECULAR SEQUENCE DATA; MONOCARBOXYLIC ACID TRANSPORTERS; PSYCHOMOTOR DISORDERS; SEVERITY OF ILLNESS INDEX; SEX FACTORS; THYROID GLAND; THYROXINE; TRIIODOTHYRONINE;

EID: 79955730270     PISSN: 00034266     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ando.2011.03.003     Document Type: Article

References (30)

1. Gereben B., Zavacki A.M., Ribich S., Kim B.W., Huang S.A., Simonides W.S., et al. Cellular and molecular basis of deiodinase-regulated thyroid hormone signalling. Endocr Rev 2008, 29:898-938.
2. Yen P.M. Physiological and molecular basis of thyroid hormone action. Physiol Rev 2001, 81:1097-1142.
3. Hennemann G., Docter R., Friesema E.C., de Jong M., Krenning E.P., Visser T.J. Plasma membrane transport of thyroid hormones and its role in thyroid hormone metabolism and bioavailability. Endocr Rev 2001, 22:451-476.
4. Friesema E.C., Ganguly S., Abdalla A., Manning Fox J.E., Halestrap A.P., Visser T.J. Identification of monocarboxylate transporter 8 as a specific thyroid hormone transporter. J Biol Chem 2003, 278:40128-40135.
5. Friesema E.C., Jansen J., Jachtenberg J.W., Visser W.E., Kester M.H., Visser T.J. Effective cellular uptake and efflux of thyroid hormone by human monocarboxylate transporter 10. Mol Endocrinol 2008, 22:1357-1369.
6. Friesema E.C., Kuiper G.G., Jansen J., Visser T.J., Kester M.H. Thyroid hormone transport by the human monocarboxylate transporter 8 and its rate-limiting role in intracellular metabolism. Mol Endocrinol 2006, 20:2761-2772.
7. Visser W.E., Friesema E.C., Visser T.J. Minireview: thyroid hormone transporters: the knowns and the unknowns. Mol Endocrinol 2011, 25:1-14.
8. Dumitrescu A.M., Liao X.H., Best T.B., Brockmann K., Refetoff S. A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. Am J Hum Genet 2004, 74:168-175.
9. Friesema E.C., Grueters A., Biebermann H., Krude H., von Moers A., Reeser M., et al. Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation. Lancet 2004, 364:1435-1437.
10. Schwartz C.E., May M.M., Carpenter N.J., Rogers R.C., Martin J., Bialer M.G., et al. Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene. Am J Hum Genet 2005, 77:41-53.
11. Friesema E.C., Jansen J., Heuer H., Trajkovic M., Bauer K., Visser T.J. Mechanisms of disease: psychomotor retardation and high T3 levels caused by mutations in monocarboxylate transporter 8. Nat Clin Pract 2006, 2:512-523.
12. Vaurs-Barriere C., Deville M., Sarret C., Giraud G., Des Portes V., Prats-Vinas J.M., et al. Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects. Ann Neurol 2009, 65:114-118.
13. Halestrap A.P., Meredith D. The SLC16 gene family - from monocarboxylate transporters (MCTs) to aromatic amino acid transporters and beyond. Pflugers Arch 2004, 447:619-628.
14. Kim D.K., Kanai Y., Chairoungdua A., Matsuo H., Cha S.H., Endou H. Expression cloning of a Na+-independent aromatic amino acid transporter with structural similarity to H+/monocarboxylate transporters. J Biol Chem 2001, 276:17221-17228.
15. Nishimura M., Naito S. Tissue-specific mRNA expression profiles of human solute carrier transporter superfamilies. Drug Metab Pharmacokinet 2008, 23:22-44.
16. Heuer H., Maier M.K., Iden S., Mittag J., Friesema E.C., Visser T.J., et al. The monocarboxylate transporter 8 linked to human psychomotor retardation is highly expressed in thyroid hormone-sensitive neuron populations. Endocrinology 2005, 146:1701-1706.
17. Allan W., Herndon C.N., Dudley F.C. Some examples of the inheritance of mental deficiency: apparently sex-linked idiocy and microcephaly. Am J Mental Defic 1944, 48:325-334.
18. Holden K.R., Zuniga O.F., May M.M., Su H., Molinero M.R., Rogers R.C., et al. X-linked MCT8 gene mutations: characterization of the paediatric neurologic phenotype. J Child Neurol 2005, 20:852-857.
19. Friesema E.C., Visser W.E., Visser T.J. Genetics and phenomics of thyroid hormone transport by MCT8. Mol Cell Endocrinol 2010, 322:107-113.
20. Jansen J., Friesema E.C., Kester M.H., Milici C., Reeser M., Gruters A., et al. Functional analysis of monocarboxylate transporter 8 mutations identified in patients with x-linked psychomotor retardation and elevated serum triiodothyronine. J Clin Endocrinol Metab 2007, 92:2378-2381.
21. Jansen J., Friesema E.C., Kester M.H., Schwartz C.E., Visser T.J. Genotype-phenotype relationship in patients with mutations in thyroid hormone transporter MCT8. Endocrinology 2008, 149:2184-2190.
22. Kinne A., Roth S., Biebermann H., Koehrle J., Gruters A., Schweizer U. Surface translocation and T3 uptake of mutant MCT8 proteins are cell type-dependent. J Mol Endocrinol 2009, 43:263-271.
23. Dumitrescu A.M., Liao X.H., Weiss R.E., Millen K., Refetoff S. Tissue-specific thyroid hormone deprivation and excess in monocarboxylate transporter (mct) 8-deficient mice. Endocrinology 2006, 147:4036-4043.
24. Trajkovic M., Visser T.J., Mittag J., Horn S., Lukas J., Darras V.M., et al. Abnormal thyroid hormone metabolism in mice lacking the monocarboxylate transporter 8. J Clin Invest 2007, 117:627-635.
25. Trajkovic M., Visser T.J., Darras W.M., Friesema E.C.H., Schlott B., Mittag J., et al. Consequences of MCT8 deficiency for renal transport and metabolism of thyroid hormones in mice. Endocrinology 2009, 151:802-809.
26. Di Cosmo C., Liao X.H., Dumitrescu A.M., Philp N.J., Weiss R.E., Refetoff S. Mice deficient in MCT8 reveal a mechanism regulating thyroid hormone secretion. J Clin Invest 2010, 120:3377-3388.
27. Trajkovic-Arsic M, Müller J, Darras VM, Groba C, Lee S, Weih D, et al. Impact of monocarboxylate transporter (Mct)-8 deficiency on the hypothalamus-pituitary-thyroid axis in mice. Endocrinology 2010;151:5053-62.
28. Bernal J. Thyroid hormone receptors in brain development and function. Nat Clin Pract 2007, 3:249-259.
29. Wemeau J.L., Pigeyre M., Proust-Lemoine E., d'Herbomez M., Gottrand F., Jansen J., et al. Beneficial effects of propylthiouracil plus L-thyroxine treatment in a patient with a mutation in MCT8. J Clin Endocrinol Metab 2008, 93:2084-2088.
30. Di Cosmo C., Liao X.H., Dumitrescu A.M., Weiss R.E., Refetoff S. A thyroid hormone analog with reduced dependence on the monocarboxylate transporter 8 for tissue transport. Endocrinology 2009, 150:4450-4458.