A homozygous tyrosine hydroxylase gene promoter mutation in a patient with dopa-responsive encephalopathy: Clinical, biochemical and genetic analysis

Molecular Genetics and Metabolism

Volumn 92, Issue 3, 2007, Pages 274-277

  Ribasés, Marta ^a   Serrano, Mercedes ^b,c   Fernández Álvarez, Emilio ^b,c   Pahisa, Sandra ^d   Ormazabal, Aida ^b,c   García Cazorla, Àngels ^b,c   Pérez Dueñas, Belén ^b,c   Campistol, Jaume ^b,c   Artuch, Rafael ^b,c   Cormand, Bru ^c,d  

^a HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^b HOSPITAL SANT JOAN DE DÉU   (Spain)

^c CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^d UNIVERSITY OF BARCELONA   (Spain)

Author keywords

cAMP response element; CRE; Dopa responsive encephalopathy; Mutation analysis; Neurotransmission; TH gene promoter; Tyrosine hydroxylase deficiency

Indexed keywords

CARBIDOPA PLUS LEVODOPA; CYCLIC AMP RESPONSIVE ELEMENT BINDING PROTEIN; TYROSINE 3 MONOOXYGENASE;

ARTICLE; CASE REPORT; CEREBROSPINAL FLUID ANALYSIS; CHEMICAL ANALYSIS; CHILD; CLINICAL EXAMINATION; DOSE RESPONSE; DRUG DOSE INCREASE; DRUG TOLERABILITY; DYSTONIA; ELECTROENCEPHALOGRAM; FAMILY HISTORY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HOMOZYGOSITY; HUMAN; METABOLIC ENCEPHALOPATHY; MUSCLE HYPOTONIA; MYOCLONUS; NUCLEAR MAGNETIC RESONANCE IMAGING; PARKINSONISM; PRIORITY JOURNAL; PROTEIN BINDING; TREMOR;

BRAIN DAMAGE, CHRONIC; CHILD; CHILD, PRESCHOOL; CYCLIC AMP; DIHYDROXYPHENYLALANINE; DOPAMINE AGENTS; FEMALE; GENE EXPRESSION REGULATION, ENZYMOLOGIC; HOMOZYGOTE; HUMANS; POINT MUTATION; PROMOTER REGIONS (GENETICS); RESPONSE ELEMENTS; TRANSCRIPTION, GENETIC; TYROSINE 3-MONOOXYGENASE;

EID: 34848916085     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2007.07.004     Document Type: Article

References (24)

1. Nagatsu T., Levitt M., and Udenfriend S. Tyrosine hydroxylase. The initial step in norepinephrine biosynthesis. J. Biol. Chem. 239 (1964) 2910-2917
2. Lewis D.A., Melchitzky D.S., and Haycock J.W. Four isoforms of tyrosine hydroxylase are expressed in human brain. Neuroscience 54 (1993) 477-492
3. Dumas S., Le Hir H., Bodeau-Pean S., Hirsch E., Thermes C., and Mallet J. New species of human tyrosine hydroxylase mRNA are produced in variable amounts in adrenal medulla and are overexpressed in progressive supranuclear palsy. J. Neurochem. 67 (1996) 19-25
4. Ohye T., Ichinose H., Yoshizawa T., Kanazawa I., and Nagatsu T. A new splicing variant for human tyrosine hydroxylase in the adrenal medulla. Neurosci. Lett. 312 (2001) 157-160
5. Kumer S.C., and Vrana K.E. Intricate regulation of tyrosine hydroxylase activity and gene expression. J. Neurochem. 67 (1996) 443-462
6. Ludecke B., Dworniczak B., and Bartholome K. A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome. Hum. Genet. 95 (1995) 123-125
7. Ludecke B., Knappskog M., Clayton T., Surtees R.A., Clelland J.D., Heales S.J., Brand M.P., Bartholome K., and Flatmark T. Recessively inherited l-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene. Hum. Mol. Genet. 5 (1996) 1023-1028
8. Knappskog P.M., Flatmark T., Mallet J., Ludecke B., and Bartholome K. Recessively inherited l-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene. Hum. Mol. Genet. 4 (1995) 1209-1212
9. van den Heuvel L.P., Luiten B., Smeitink J.A., de Rijk-van Andel J.F., Hyland K., Steenbergen-Spanjers G.C., Janssen R.J., and Wevers R.A. A common point mutation in the tyrosine hydroxylase gene in autosomal recessive l-DOPA-responsive dystonia in the Dutch population. Hum. Genet. 102 (1998) 644-646
10. Brautigam C., Wevers R.A., Jansen R.J., Smeitink J.A., de Rijk-van Andel J.F., Gabreels F.J., and Hoffmann G.F. Biochemical hallmarks of tyrosine hydroxylase deficiency. Clin. Chem. 44 (1998) 1897-1904
11. Furukawa Y., Graf W.D., Wong H., Shimadzu M., and Kish S.J. Dopa-responsive dystonia simulating spastic paraplegia due to tyrosine hydroxylase (TH) gene mutations. Neurology 56 (2001) 260-263
12. Hoffmann G.F., Assmann B., Brautigam C., Dionisi-Vici C., Haussler M., de Klerk J.B., Naumann M., Steenbergen-Spanjers G.C., Strassburg H.M., and Wevers R.A. Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia. Ann. Neurol. 54 Suppl. 6 (2003) S56-S65
13. Hyland K. The lumbar puncture for diagnosis of pediatric neurotransmitter diseases. Ann. Neurol. 54 Suppl. 6 (2003) S13-S17
14. Ormazabal A., Garcia-Cazorla A., Fernandez Y., Fernandez-Alvarez E., Campistol J., and Artuch R. HPLC with electrochemical and fluorescence detection procedures for the diagnosis of inborn errors of biogenic amines and pterins. J. Neurosci. Methods 142 (2005) 153-158
15. Verbeek M., Steenbergen-Spanjers G., Willemsen M., Van Den Heuvel B., Hoffmann G., Zammarchi E., Donati M., Smeitink J., Seeger J., Blau N., and Wevers R. Dopa responsive dystonia caused by promoter mutations in the tyrosine hydroxylase gene. J. Inherit. Metab. Dis. 28 Suppl. 1 (2005) 233
16. Kessler M.A., Yang M., Gollomp K.L., Jin H., and Iacovitti L. The human tyrosine hydroxylase gene promoter. Brain Res. Mol. Brain Res. 112 (2003) 8-23
17. Kim T.E., Park M.J., Choi E.J., Lee H.S., Lee S.H., Yoon S.H., Oh C.K., Lee B.J., Kim S.U., Lee Y.S., and Lee M.A. Cloning and cell type-specific regulation of the human tyrosine hydroxylase gene promoter. Biochem. Biophys. Res. Commun. 312 (2003) 1123-1131
18. Lewis E.J., Harrington C.A., and Chikaraishi D.M. Transcriptional regulation of the tyrosine hydroxylase gene by glucocorticoid and cyclic AMP. Proc. Natl. Acad. Sci. USA 84 (1987) 3550-3554
19. Lewis E.J., and Chikaraishi D.M. Regulated expression of the tyrosine hydroxylase gene by epidermal growth factor. Mol. Cell. Biol. 7 (1987) 3332-3336
20. Vyas S., Faucon Biguet N., and Mallet J. Transcriptional and post-transcriptional regulation of tyrosine hydroxylase gene by protein kinase C. Embo J. 9 (1990) 3707-3712
21. Tinti C., Yang C., Seo H., Conti B., Kim C., Joh T.H., and Kim K.S. Structure/function relationship of the cAMP response element in tyrosine hydroxylase gene transcription. J. Biol. Chem. 272 (1997) 19158-19164
22. Lewis-Tuffin L.J., Quinn G., and Chikaraishi D.M. Tyrosine hydroxylase transcription depends primarily on cAMP response element activity, regardless of the type of inducing stimulus. Mol. Cell. Neurosci. 25 (2004) 536-547
23. Trocme C., Sarkis C., Hermel J.M., Duchateau R., Harrison S., Simonneau M., Al-Shawi R., and Mallet J. CRE and TRE sequences of the rat tyrosine hydroxylase promoter are required for TH basal expression in adult mice but not in the embryo. Eur. J. Neurosci. 10 (1998) 508-521
24. Kim K.S., Lee M.K., Carroll J., and Joh T.H. Both the basal and inducible transcription of the tyrosine hydroxylase gene are dependent upon a cAMP response element. J. Biol. Chem. 268 (1993) 15689-15695