Valproic Acid Increases SMN Levels in Spinal Muscular Atrophy Patient Cells

Annals of Neurology

Volumn 54, Issue 5, 2003, Pages 647-654

  Sumner, Charlotte J ^a   Huynh, Thanh N ^a   Markowitz, Jennifer A ^a   Perhac, J Stephen ^a   Hill, Brenna ^b   Coovert, Daniel D ^c   Schussler, Kristie ^c   Chen, Xiaocun ^d   Jarecki, Jill ^d   Burghes, Arthur H M ^c,e   Taylor, J Paul ^a   Fischbeck, Kenneth H ^a  

^a NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^b NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES   (United States)

^c OHIO STATE UNIVERSITY   (United States)

^d VERTEX PHARMACEUTICALS   (United States)

^e THE OHIO STATE UNIVERSITY COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

NUCLEOTIDE; PROTEIN; SMN1 PROTEIN; SMN2 PROTEIN; UNCLASSIFIED DRUG; VALPROIC ACID;

ANIMAL CELL; ARTICLE; CELL LINE; CENTROMERE; CLINICAL ARTICLE; CONTROLLED STUDY; DRUG EFFICACY; EXON; FIBROBLAST; GENE MUTATION; GENETIC CODE; GENETIC TRANSCRIPTION; HEREDITARY SPINAL MUSCULAR ATROPHY; HUMAN; HUMAN CELL; IMMUNOBLOTTING; IMMUNOCYTOCHEMISTRY; INFANT; MOTOR NEURON DISEASE; MOUSE; NEWBORN; NONHUMAN; PRESCHOOL CHILD; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN EXPRESSION; PROTEIN STABILITY; PROTEIN STRUCTURE; TELOMERE;

ANTICONVULSANTS; CELL LINE; CHILD, PRESCHOOL; CYCLIC AMP RESPONSE ELEMENT-BINDING PROTEIN; DOSE-RESPONSE RELATIONSHIP, DRUG; FIBROBLASTS; HUMANS; IMMUNOBLOTTING; IMMUNOHISTOCHEMISTRY; INFANT; INFANT, NEWBORN; NERVE TISSUE PROTEINS; PROMOTER REGIONS (GENETICS); REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA-BINDING PROTEINS; SPINAL MUSCULAR ATROPHIES OF CHILDHOOD; TIME FACTORS; TRANSCRIPTION, GENETIC; VALPROIC ACID;

EID: 0242290062     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.10743     Document Type: Article

References (37)

1. Crawford TO, Pardo CA. The neurobiology of childhood spinal muscular atrophy. Neurobiol Dis 1996;3:97-110.
2. Lefebvre S, Burglen L, Reboullet S, Clermont O, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995;80:155-165.
3. Lorson CL, Hahnen E, Androphy EJ, Wirth B. A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc Natl Acad Sci USA 1999;96:6307-6311.
4. Monani UR, Lorson CL, Parsons DW, et al. A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. Hum Mol Genet 1999;8:1177-1183.
5. Lorson CL, Androphy EJ. An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN. Hum Mol Genet 2000;9:259-265.
6. Gennarelli M, Lucarelli M, Capon F, et al. Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients. Biochem Biophys Res Commun 1995;213:342-348.
7. Lorson CL, Strasswimmer J, Yao JM, et al. SMN oligomerization defect correlates with spinal muscular atrophy severity. Nat Genet 1998;19:63-66.
8. McAndrew PE, Parsons DW, Simard LR, et al. Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number. Am J Hum Genet 1997;60:1411-1422.
9. Coovert DD, Le TT, McAndrew PE, et al. The survival motor neuron protein in spinal muscular atrophy. Hum Mol Genet 1997;6:1205-1214.
10. Lefebvre S, Butler P, Liu Q, et al. Correlation between severity and SMN protein level in spinal muscular atrophy. Nat Genet 1997;16:265-269.
11. Monani UR, Sendtner M, Coovert DD, et al. The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy. Hum Mol Genet 2000;12:333-339.
12. Paushkin S, Gubitz AK, Massenet S, Dreyfuss G. The SMN complex, an assemblyosome of ribonucleoproteins. Curr Opin Cell Biol 2002;14:305-312.
13. Liu Q, Dreyfuss G. A novel nuclear structure containing the survival of motor neurons protein. EMBO J 1996;15:3555-3565.
14. Patrizi AL, Tiziano F, Zappata S, et al. SMN protein analysis in fibrobast, amniocyte, and CVS cultures from spinal muscular atrophy patients and its relevance for diagnosis. Eur J Hum Genet 1999;7:301-309.
15. Chang JG, Hsieh-Li HM, Jong YJ, et al. Treatment of spinal muscular atrophy by sodium butyrate. Proc Natl Acad Sci USA 2001;98:9808-9813.
16. Andreassi C, Jarecki J, Zhou J, et al. Aclarubucin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients. Hum Mol Genet 2001;10:2841-2849.
17. Phiel CJ, Zhang F, Huang EY, et al. Histone deacetylase is a direct target of valproic acid, a potent anticonvulsant, mood stabilizer, and teratogen. J Biol Chem 2001;276:36734-36741.
18. Gottlicher M, Minucci S, Zhu P, et al. Valproic acid defines a novel class of HDAC inhibitors inducing differentiation of transformed cells. EMBO J 2001;20:6969-6978.
19. Applied Biosystems. User Bulletin 2: ABI Prism 7700 Sequence Detection System, relative quantitation of gene expression. Applied Biosystems, Foster City, CA. 1997.
20. Winer BJ, Brown DR, Michels KM. Statistical principles in experimental design. 3rd ed. Boston: McGraw-Hill, 1991.
21. T). Biochim Biophys Acta 1999;1445:330-336.
22. Cashman NR, Durham HD, Blusztajn JK, et al. Neuroblastoma x spinal cord (NSC) hybrid cell lines resemble developing motor neurons. Dev Dyn 1992;194:209-221.
23. Zlokarnik G, Negulescu PA, Knapp TE, et al. Quantitation of transcription and clonal selection of single living cells with β-lactamase reporter. Science 1998;279:84-88.
24. Young PJ, Le TT, thi Man N, et al. The relationship between SMN, the spinal muscular atrophy protein, and nuclear coiled bodies in differentiated tissues and cultured cells. Exp Cell Res 2000;25:365-374.
25. Echaniz-Laguna A, Miniou P, Bartholdi D, Melki J. The promoters of the survival motor neuron gene (SMN) and its copy (SMNc) share common regulatory elements. Am J Hum Genet 1999;64:1365-1370.
26. Kelly WK, O'Connor OA, Marks PA. Histone deacetylase inhibitors: from target to clinical trials. Expert Opin Invest Drugs 2002;11:1695-1713.
27. Van Lint C, Emiliani S, Verdin E. The expression of a small fraction of cellular genes is changed in response to histone hyperacetylation. Gene Expr 1996;5:245-253.
28. Hoffman Y, Lorson CL, Stamm S, et al. Htra-beta1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron-2 (SMN2). Proc Natl Acad Sci USA 2000;97:9618-9623.
29. Young PJ, DiDonato CJ, Hu D, et al. SRp30c-dependent stimulation of survival motor neuron (SMN) exon 7 inclusion is facilitated by a direct interaction with hTrabeta1. Hum Mol Genet 2002;11:577-587.
30. Hofmann Y, Wirth B. HnRNP-G promotes exon 7 inclusion of survival motor neuron (SMN) via direct interaction with Htra2-B1. Hum Mol Genet 2002;11:2037-2049.
31. Chen G, Yaun P, Hawver DB, et al. Increase in AP-1 transcription factor DNA binding activity by valproic acid. Neuropsychopharmacology 1997;16:238-245.
32. Chen G, Yaun PX, Jaing YM, et al. Valproate robustly enhances AP-1 mediated gene expression. Brain Res Mol Brain Res 1999;64:52-58.
33. Tremolizzo L, Carboni G, Ruzicka WB, et al. An epigenetic mouse model for molecular and behavioral neuropathologies related to schizophrenia vulnerability. Proc Natl Acad Sci USA 2002;99:17095-17100.
34. Löscher W. Serum protein binding and pharmacokinetics of valproate in man, dog, rat, and mouse. J Pharm Exp Ther 1978;204:255-261.
35. Nau H, Löscher W. Valproic acid: brain and plasma levels of the drug and its metabolites, anticonvulsant effects and γ-aminobutyric acid (GABA) metabolism in the mouse. J Pharmacol Exp Ther 1982;220:654-659.
36. Löscher W, Esenwein H. Pharmacokinetics of sodium valproate in dog and mouse. Arzneimittelforschung 1978;28:782-787.
37. Perucca E. Pharmacological and therapeutic properties of valproate: a summary after 35 years of clinical experience. CNS Drugs 2002;16:695-714.