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

Volumn 43, Issue 5, 2006, Pages 457-460

  Maranduba, C M C ^a   Friesema, E C H ^b   Kok, F ^a,c   Kester, M H A ^b   Jansen, J ^b   Sertie A L ^a   Passos Bueno, M R ^a   Visser, T J ^b  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b ERASMUS MEDICAL CENTER   (Netherlands)

^c Fleury   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

LIOTHYRONINE; MONOCARBOXYLATE TRANSPORTER; MONOCARBOXYLATE TRANSPORTER 8; THYROID HORMONE; UNCLASSIFIED DRUG;

ADULT; AGED; ALLAN HERNDON DUDLEY SYNDROME; ARTICLE; CELL METABOLISM; CELL TRANSPORT; CHROMOSOME SEGREGATION; CLINICAL ARTICLE; CONTROLLED STUDY; FAMILY STUDY; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN CELL; LIOTHYRONINE BLOOD LEVEL; MALE; NUCLEOTIDE SEQUENCE; PATHOGENICITY; PEDIGREE ANALYSIS; PRIORITY JOURNAL; X LINKED MENTAL RETARDATION;

ADULT; AGED; BIOLOGICAL TRANSPORT; DNA MUTATIONAL ANALYSIS; FEMALE; FRAMESHIFT MUTATION; GENETIC DISEASES, X-LINKED; GENETIC SCREENING; HUMANS; MALE; MENTAL RETARDATION; MIDDLE AGED; MONOCARBOXYLIC ACID TRANSPORTERS; NERVOUS SYSTEM DISEASES; PEDIGREE; SEQUENCE DELETION; SYNDROME; THYROID HORMONES; TRIIODOTHYRONINE;

EID: 33646396742     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2005.035840     Document Type: Article

References (18)

1. Stevenson RE, Goodman HO, Schwartz CE, Simensen RJ, McLean WT Jr, Herndon CN. Ilan-Herndon syndrome. I. Clinical studies. Am J Hum Genet 1990;47:446-53.
2. Bundey S, Comley LA, Blair A. Allan-Herndon syndrome - or X-linked cerebral palsy? Am J Hum Genet 1991;48:1214.
3. Passos-Bueno MR, Byth BC, Rosenberg S, Takata RI, Bakker E, Beggs AH, Pavanello RC, Vainzof M, Davies KE, Zatz M. Severe nonspecific mental retardation caused by a proximally Xp located gene: intragenic heterogeneity or a new form of X-linked mental retardation? Am J Med Genet 1993;46:172-5.
4. Zorick TS, Kleimann S, Sertie A, Zatz M, Rosenberg S, Passos-Bueno MR. Fine mapping and clinical reevaluation of a Brazilian pedigree with a severe form of X-linked mental retardation associated with other neurological dysfunction. Am J Med Genet 2004;127:321-3.
5. Schwartz CE, Ulmer J, Brown A, Pancoast I, Goodman HO, Stevenson RE. Allan-Herndon syndrome. II. Linkage to DNA markers in Xq21. Am J Hum Genet 1990;47:454-8.
6. Bialer MG, Lawrence L, Stevenson RE, Silverberg G, Williams MK, Arena JF, Lubs HA, Schwartz CE. Allan-Herndon-Dudley syndrome: clinical and linkage studies on a second family. Am J Med Genet 1992;43:491-7.
7. Dumitrescu AM, Liao XH, Best TB, 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;74:168-75.
8. Friesema EC, Grueters A, Biebermann H, Krude H, Von Moers A, Reeser M, Barrett TG, Mancilla EE, Svensson J, Kester MH, Kuiper GG, Balkassmi S, Uitterlinden AG, Koehrle J, Rodien P, Halestrap AP, Visser TJ. Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation. Lancet 2004;364:1435-7.
9. Miller SA, Dykes KK, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215.
10. den Dunnen JT, Antonarakis SE. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 2000;15:7-12.
11. Kester MHA, Martinez de Mena R, Obregon MJ, Marinkovic D, Howatson A, Lavado-Autric R, Visser TJ, Hume R, Morreale de Escobar G. Iodothyronine levels in the human developing brain: major regulatory roles of iodothyronine deiodinase levels in different areas. J Clin Endocrinol Metab 2004;89:3117-328.
12. Schwartz CE, May MM, Carpenter NJ, Rogers RC, Martin J, Bialer MG, Ward J, Sanabria J, Marsa S, Lewis JA, Echeverri R, Lubs HA, Voeller K, Simensen RJ, Stevenson RE. Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene. Am J Hum Genet 2005;77:41-53.
13. Frischmeyer PA, van Hoof A, O'Donnell K, Guerrerio AL, Parker R, Dietz HC. An mRNA surveillance mechanism that eliminates transcripts lacking termination codons. Science 2002;295:2258-61.
14. Friesema EC, Ganguly S, Abdalla A, Fox JEM, Halestrap AP, Visser TJ. Identification of monocarboxylate transporter 8 as a specific thyroid hormone transporter. J Biol Chem 2003;278:40128-35.
15. Heuer H, Maier MK, Iden S, Mittag J, Friesema EC, Visser TJ, Bauer K. The monocarboxylate transporter 8 linked to human psychomotor retardation is highly expressed in thyroid hormone sensitive neuron populations. Endocrinology 2005;146:1701-6.
16. Brockmann K, Dumitrescu AM, Best TT, Hanefeld F, Refetoff S. X-linked paroxysmal dyskinesia and severe global retardation caused by defective MCT8 gene. J Neurol 2005;252:663-6.
17. Brown JG, Millward DJ. Dose response of protein turnover in rat skeletal muscle to triiodothyronine treatment. Biochim Biophys Acta 1983;757:182-90.
18. Doi J, Ohtsubo A, Ohtsuka A, Hayashi K. Triiodothyronine but not thyroxine accelerates myofibrillar proteolysis via ATP production in cultured muscle cells. Biosci Biotechnol Biochem 2003;67:2451-24.