Histone deacetylase inhibitors as potential treatment for spinal muscular atrophy

Genetics and Molecular Biology

Volumn 36, Issue 3, 2013, Pages 299-307

  Mohseni, Jafar ^a   Zabidi Hussin, Z A M H ^a   Sasongko, Teguh Haryo ^a  

^a SCHOOL OF MEDICAL SCIENCES   (Malaysia)

Author keywords

Hdaci; Molecular therapy; Spinal muscular atrophy

Indexed keywords

4 PHENYLBUTYRIC ACID; CURCUMIN; ENTINOSTAT; EPIGALLOCATECHIN GALLATE; HISTONE; HISTONE DEACETYLASE; HISTONE DEACETYLASE 1; HISTONE DEACETYLASE 2; HISTONE DEACETYLASE 3; HISTONE DEACETYLASE 5; HISTONE DEACETYLASE 6; HISTONE DEACETYLASE 8; HISTONE DEACETYLASE 9; HISTONE DEACETYLASE INHIBITOR; ISTODEX; KOJO KON; M 344; PANOBINOSTAT; PHYTOALEXIN; RESVERATROL; ROMIDEPSIN; SURVIVAL MOTOR NEURON PROTEIN 1; SURVIVAL MOTOR NEURON PROTEIN 2; TRICHOSTATIN A; UNCLASSIFIED DRUG; VALPROIC ACID; VORINOSTAT;

ANEMIA; CHROMATIN ASSEMBLY AND DISASSEMBLY; CHROMATIN STRUCTURE; CLINICAL TRIAL (TOPIC); DRUG EFFICACY; DRUG EXCRETION; DRUG HALF LIFE; DRUG METABOLISM; DRUG TARGETING; ENZYME INHIBITION; EUKARYOTIC CELL; EYE IRRITATION; GASTROINTESTINAL DISEASE; GASTROINTESTINAL HEMORRHAGE; GENE; GENE EXPRESSION REGULATION; GENE MUTATION; HEMATOLOGIC DISEASE; HISTONE ACETYLATION; HUMAN; LIVER DISEASE; LUNG EMBOLISM; NEUROLOGIC DISEASE; PATIENT COMPLIANCE; RESPIRATORY TRACT DISEASE; REVIEW; SKIN IRRITATION; SMN1 GENE; SMN2 GENE; SPINAL MUSCULAR ATROPHY; TASTE DISORDER; THROMBOCYTOPENIA; TRANSCRIPTION INITIATION; TRANSCRIPTION REGULATION;

EID: 84883291308     PISSN: 14154757     EISSN: 16784685     Source Type: Journal    
DOI: 10.1590/S1415-47572013000300001     Document Type: Review

References (42)

1. Andreassi C, Angelozzi C, Tiziano FD, Vitali T, De Vincenzi E, Boninsegna A, Villanova M, Bertini E, Pini A, Neri G, et al. (2004) Phenylbutyrate increases SMN expression in vitro: Relevance for treatment of spinal muscular atrophy. Eur J Hum Genet 12:59-65.
2. Avila AM, Burnett BG, Taye AA, Gabanella F, Knight MA, Hartenstein P, Cizman Z, Di Prospero NA, Pellizzoni L, Fischbeck KH,et al. (2007) Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy. J Clin Invest 117:659-671.
3. Brahe C, Vitali T, Tiziano FD, Angelozzi C, Pinto AM, Borgo F, Moscato U, Bertini E, Mercuri E and Neri G (2005) Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients. Eur J Hum Genet 13:256-259.
4. Brichta L, Hofmann Y, Hahnen E, Siebzehnrubl FA, Raschke H, Blumcke I, Eyupoglu IY and Wirth B (2003) Valproic acid increases the SMN2 protein level: A well-known drug as a potential therapy for spinal muscular atrophy. Hum Mol Genet 12:2481-2489.
5. Brichta L, Holker I, Haug K, Klockgether T and Wirth B (2006) In vivo activation of SMN in spinal muscular atrophy carriers and patients treated with valproate. Ann Neurol 59:970-975.
6. Brichta L, Garbes L, Jedrzejowska M, Grellscheid SN, Holker I, Zimmermann K and Wirth B (2008) Nonsense-mediated messenger RNA decay of survival motor neuron 1 causes spinal muscular atrophy. Hum Genet 123:141-153.
7. Burglen L, Lefebvre S, Clermont O, Burlet P, Viollet L, Cruaud C, Munnich A and Melki J (1996) Structure and organization of the human survival motor neurone (SMN) gene. Genomics 32:479-482.
8. Burlet P, Burglen L, Clermont O, Lefebvre S, Viollet L, Munnich A and Melki J (1996) Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease. J Med Genet 33:281-283.
9. Clermont O, Burlet P, Burglen L, Lefebvre S, Pascal F, McPherson J, Wasmuth JJ, Cohen D, Le Paslier D, Weissenbach J, et al. (1994) Use of genetic and physical mapping to locate the spinal muscular atrophy locus between two new highly polymorphic DNA markers. Am J Hum Genet 54:687-694.
10. Darbar IA, Plaggert PG, Resende MBD, Zanoteli E and Reed UC (2011) Evaluation ofmuscle strength and motor abilities in children with type II and III spinal muscle atrophy treated with valproic acid. BMC Neurology11:36.
11. Dayangac-Erden D, Topaloglu and Erdem-Yurter H (2008) A preliminary report on spinal muscular atrophy lymphoblastoid cell lines: Are they an appropriate tool for drug screening? Adv Ther 25:274-279.
12. Dayangac-Erden D, Bora-Tara G, Ayhan P, Kocaefe C, Dalkara S, Yelekc IK, Erdem-Yurter H and Demir AS (2009) Histone deacetylase inhibition activity and molecular docking of (E)-resveratrol: Its therapeutic potential in spinal muscular atrophy. Chem Biol Drug Des73:355-364.
13. Dayangac-Erden D, Bora-Tatar G, Dalkara S, Demir AS and Erdem-Yurter H (2011) Carboxylic acid derivatives of histone deacetylase inhibitors induce full length SMN2 transcripts: A promising target for spinal muscular atrophy therapeutics. Arch Med Sci 7:230-234.
14. Feldkotter M, Schwarzer V, Wirth R, Wienker TF and Wirth B (2002) Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: Fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. Am J Hum Genet 70:358-368.
15. Garbes L, Riessland M, Holker I, Heller R, Hauke J, Trankle C, Coras R, Blumcke I, Hahnen E and Wirth B (2009) LBH589 induces up to 10-fold SMN protein levels by several independent mechanisms and is effective even in cells from SMA patients non-responsive to valproate. Hum Mol Genet 18:3645-3658.
16. Grayson DR, Kundakovic M and Sharma RP (2010) Is there a future for histone deacetylase inhibitors in the pharmacotherapy of psychiatric disorders? Mol Pharmacol 77:126-135.
17. Hahnen E, Eyupoglu IY, Brichta L, Haastert K, Trankle C, Siebzehnrubl FA, Riessland M, Holker I, Claus P, Romstock J, et al. (2006) In vitro and ex vivo evaluation of secondgeneration histone deacetylase inhibitors for the treatment of spinal muscular atrophy. J Neurochem 98:193-202.
18. Harahap ISK, Saito T, San LP, Sasaki N, Gunadi, Nurputra DKP, Yusoff S, Yamamoto T, Morikawa S, Nishimura N, et al. (2011) Valproic acid increases SMN2 expression and modulates SF2/ASF and hnRNPA1 expression in SMA fibroblast cell lines. Brain Dev 34:213-222.
19. Hauke J, Riessland M, Lunke S, Eyupoglu IY, Blumcke I, El-Osta A, Wirth B and Hahnen E (2009) Survival motor neuron gene 2 silencing by DNA methylation correlates with spinal muscular atrophy disease severity and can be bypassed by histone deacetylase inhibition. Hum Mol Genet 18:304-317.
20. Kernochan LE, Russo ML, Woodling NS, Huynh TN, Avila AM, Fischbeck KH and Sumner CJ (2005) The role of histone acetylation in SMN gene expression. Hum Mol Genet 14:1171-1182.
21. Kissel JT, Scott CB, Reyna SP, Crawford TO, Simard LR, Krosschell KJ, Acsadi G, Elsheik B, Schroth MK, D'Anjou G, et al. (2011) SMA CARNIVAL Trial Part II: A prospective, single-armed trial of L-carnitine and valproic acid in ambulatory children with spinal muscular atrophy. PLoS One 6:e21296.
22. Lackmann GM (2004) Valproic-acid-induced thrombocytopenia and hepatotoxicity: Discontinuation of treatment? Pharmacology 70:57-58.
23. Lefebvre S, Burglen L, Reboullet S, Clermont O, Burlet P, Viollet L, Benichou B, Cruaud C, Millasseau P, Zeviani M, et al. (1995) Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80:155-165.
24. Li Y, Shin D and Kwon SH (2013) Histonedeacetylase6 plays a role as a distinctregulator of diversecellular processes. FEBS J 280:775-793.
25. Monani UR, Pastore MT, Gavrilina TO, Jablonka S, Le TT, Andreassi C, DiCocco JM, Lorson C, Androphy EJ, Sendtner M, et al. (2003) A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy. J Cell Biol 160:41-52.
26. Nakagawa T and Guarente L (2011) Sirtuins at a glance. J Cell Sci 124:833-838.
27. Narver HL, Kong L, Burnett BG, Choe DW, Bosch-Marce M, Taye AA, Eckhaus MA and Sumner CJ (2008) Sustained improvement of spinal muscular atrophy mice treated with trichostatin A plus nutrition. Ann Neurol 64:465-470.
28. Piepers S, Cobben JM, Sodaar P, Jansen MD, Wadman RI, Meester-Delver A, Poll-The BT, Lemmink HH, Wokke JH, van der Pol WL, et al. (2010) Quantification of SMN protein in leucocytes from spinal muscular atrophy patients: Effects of treatment with valproic acid. J Neurol Neurosurg Psychiatry 82:850-852.
29. Prior TW, Swoboda KJ, Scott HD and Hejmanowski AQ (2004) Homozygous SMN1 deletions in unaffected family members and modification of the phenotype by SMN2. Am J Med Genet 130A:307-10.
30. Rak K, Lechner BD, Schneider C, Drexl H, Sendtner M and Jablonka S(2009) Valproic acid blocks excitability in SMA type I mouse motor neurons. Neurobiol Dis 36:477-487.
31. Riessland M, Brichta L, Hahnen E and Wirth B(2006) The benzamide M344, a novel histone deacetylase inhibitor, significantly increases SMN2 RNA/protein levels in spinal muscular atrophy cells. Hum Genet 120:101-110.
32. Riessland M, Ackermann B, Forster A, Jakubik M, Hauke J, Garbes L, Fritzsche I, Mende Y, Blumcke I, Hahnen E, et al. (2010) SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy. Hum Mol Genet 19:1492-1506.
33. Riester D, Hildmann C and Schwienhorst A (2007) Histone deacetylase inhibitors - Turning epigenic mechanisms of gene regulation into tools of therapeutic intervention in malignant and other diseases. Appl Microbiol Biotechnol 75:499-514.
34. Sakla M, Sand Lorson CL (2008) Induction of full-length survival motor neuron by polyphenol botanical compounds. Hum Genet 122:635-643.
35. Simic G (2008) Pathogenesis of proximal autosomal recessive spinal muscular atrophy. Acta Neuropathol 116:223-234.
36. Sumner CJ, Huynh TN, Markowitz JA, Perhac JS, Hill B, Coovert DD, Schussler K, Chen X, Jarecki J, Burghes AH, et al. (2003) Valproic acid increases SMN levels in spinal muscular atrophy patient cells. Ann Neurol 54:647-654.
37. Swoboda KJ, Scott CB, Reyna SP, Prior TW, LaSalle B, Sorenson SL, Wood J, Acsadi G, Crawford TO, Kissel JT, et al. (2009) Phase II open label study of valproic acid in spinal muscular atrophy. PLoS One 4:e5268.
38. Swoboda KJ, Scott CB, Crawford TO, Simard LR, Reyna SP, Krosschell KJ, Acsadi G, Elsheik B, Schroth MK, D'Anjou G, et al. (2010) SMA CARNI-VAL Trial Part I: Doubleblind, randomized, placebo-controlled trial of L-carnitine and valproic acid in spinal muscular atrophy. PLoS One 5:e12140.
39. Tong V, Teng XW, Chang TK and Abbott FS (2005) Valproic acid II: Effects on oxidative stress, mitochondrial membrane potential, and cytotoxicity in glutathione-depleted rat hepatocytes. Toxicol Sci 86:436-443.
40. Wadman RI, Bosboom WM, van den Berg LH, Wokke JH, Iannaccone ST and Vrancken AF (2012a) Drug treatment for spinal muscular atrophy type I. Cochrane Database Syst RevCD006281.
41. Wadman RI, Bosboom WM, van den Berg LH, Wokke JH, Iannaccone ST and Vrancken AF (2012b) Drug treatment for spinal muscular atrophy types II and III. Cochrane Database Syst RevCD006282.
42. Xu WS, Parmigiani RB and Marks PA (2007) Histone deacetylase inhibitors: Molecular mechanisms of action. Oncogene 26:5541-5552.