Therapeutics development for spinal muscular atrophy (original) (raw)
Pearn J. Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy.J Med Genet 15: 409–413, 1978. ArticlePubMedCAS Google Scholar
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 60: 1411–1422, 1997. ArticlePubMedCAS Google Scholar
Munsat TL, Davies KE. International SMA consortium meeting. (26–28 June 1992, Bonn, Germany).Neuromuscul Disord 2: 423–428, 1992 ArticlePubMedCAS Google Scholar
Zerres K, Rudnik-Schonebom S. Natural history in proximal spinal muscular atrophy: clinical analysis of 445 patients and suggestions for a modification of existing classifications.Arch Neurol 52: 518–523, 1995. ArticlePubMedCAS Google Scholar
Crawford TO. Concerns about the design of clinical trials for spinal muscular atrophy.Neuromuscul Disord 14: 456–460, 2004 ArticlePubMed Google Scholar
Swoboda KJ, Prior TW, Scott CB et al. Natural history of denervation in SMA: relation to age, SMN2 copy number, and function.Ann Neurol 57: 704–712, 2005. ArticlePubMedCAS Google Scholar
Ince SWaPG. Pathology of motor neuron disorders. In: Motor Neuron Disorders (Strong PJSaMJ, ed), pp 17–49. Philadelphia: Butterworth Heinemann, 2003. Google Scholar
Brzustowicz LM, Lehner T, Castilla LH et al. Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3.Nature 344: 540–541, 1990. ArticlePubMedCAS Google Scholar
Melki J, Sheth P, Abdelhak S et al. Mapping of acute (type I) spinal muscular atrophy to chromosome 5ql2-ql4: The French Spinal Muscular Atrophy Investigators.Lancet 336: 271–273, 1990. ArticlePubMedCAS Google Scholar
Lefebvre S, Burglen L, Reboullet S et al. Identification and characterization of a spinal muscular atrophy-determining gene.Cell 80: 155–165, 1995. ArticlePubMedCAS Google Scholar
Wirth B. An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA).Hum Mutat 15: 228–237, 2000. ArticlePubMedCAS Google Scholar
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 96: 6307–6311, 1999. ArticlePubMedCAS Google Scholar
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 8: 1177–1183, 1999. ArticlePubMedCAS Google Scholar
Sumner CJ, Fischbeck, KH. Spinal muscular atrophy. In: Neurobiology of Disease (Gilman S, ed), San Diego: Elsevier (in press).
Lorson CL, Strasswimmer J, Yao JM et al. SMN oligomerization defect correlates with spinal muscular atrophy severity.Nat Genet 19: 63–66, 1998. ArticlePubMedCAS Google Scholar
Cifuentes-Diaz C, Frugier T, Tiziano FD et al. Deletion of murine SMN exon 7 directed to skeletal muscle leads to severe muscular dystrophy.J Cell Biol 152: 1107–1114, 2001. ArticlePubMedCAS Google Scholar
Lefebvre S, Burlet P, Liu Q et al. Correlation between severity and SMN protein level in spinal muscular atrophy.Nat Genet 16: 265–269, 1997. ArticlePubMedCAS Google Scholar
Coovert DD, Le TT, McAndrew PE et al. The survival motor neuron protein in spinal muscular atrophy.Hum Mol Genet 6: 1205–1214, 1997. ArticlePubMedCAS Google Scholar
Gavrilov DK, Shi X, Das K, Gilliam TC, Wang CH. Differential SMN2 expression associated with SMA severity.Nat Genet 20: 230–231, 1998. ArticlePubMedCAS Google Scholar
Soler-Botija C, Cusco I, Caselles L, Lopez E, Baiget M, Tizzano EF. Implication of fetal SMN2 expression in type I SMA pathogenesis: protection or pathological gain of function?J Neuropathol Exp Neurol 64: 215–223, 2005. PubMedCAS Google Scholar
Parsons DW, McAndrew PE, Iannaccone ST, Mendell JR, Burghes AH, Prior TW. Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.Am J Hum Genet 63: 1712–1723, 1998. ArticlePubMedCAS Google Scholar
Feldkotter M, Schwarzer V, Wirth R, Wienker TF, Wirth B. 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, 2002. ArticlePubMedCAS Google Scholar
Prior TW, Swoboda KJ, Scott HD, Hejmanowski AQ. Homozygous SMN1 deletions in unaffected family members and modification of the phenotype by SMN2.Am J Med Genet A 130: 307–310, 2004. Article Google Scholar
Parano E, Pavone L, Falsaperla R, Trifiletti R, Wang C. Molecular basis of phenotypic heterogeneity in siblings with spinal muscular atrophy.Ann Neurol 40: 247–251, 1996. ArticlePubMedCAS Google Scholar
Sumner CJ, Huynh TN, Markowitz JA et al. Valproic acid increases SMN levels in spinal muscular atrophy patient cells.Ann Neurol 54: 647–654, 2003. ArticlePubMedCAS Google Scholar
Liu Q, Fischer U, Wang F, Dreyfuss G. The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins.Cell 90: 1013–1021, 1997. ArticlePubMedCAS Google Scholar
Patrizi AL, Tiziano F, Zappata S, Donati MA, Neri G, Brahe C. SMN protein analysis in fibroblast, amniocyte and CVS cultures from spinal muscular atrophy patients and its relevance for diagnosis.Eur J Hum Genet 7: 301–309, 1999. ArticlePubMedCAS Google Scholar
Paushkin S, Gubitz AK, Massenet S, Dreyfuss G. The SMN complex, an assemblyosome of ribonucleoproteins.Curr Opin Cell Biol 14: 305–312, 2002. ArticlePubMedCAS Google Scholar
Friesen WJ, Massenet S, Paushkin S, Wyce A, Dreyfuss G. SMN, the product of the spinal muscular atrophy gene, binds preferentially to dimethylarginine-containing protein targets.Mol Cell 7: 1111–1117, 2001. ArticlePubMedCAS Google Scholar
Friesen WJ, Paushkin S, Wyce A et al. The methylosome, a 20S complex containing JBP1 and pICln, produces dimethylarginine-modified Sm proteins.Mol Cell Biol 21: 8289–8300, 2001. ArticlePubMedCAS Google Scholar
Yong J, Wan L, Dreyfuss G. Why do cells need an assembly machine for RNA-protein complexes?Trends Cell Biol 14: 226–232, 2004. ArticlePubMedCAS Google Scholar
Will CL, Luhrmann R. Spliceosomal UsnRNP biogenesis, structure and function.Curr Opin Cell Biol 13: 290–301, 2001. ArticlePubMedCAS Google Scholar
Gabanella F, Carissimi C, Usiello A, Pellizzoni L. The activity of the spinal muscular atrophy protein is regulated during development and cellular differentiation.Hum Mol Genet 14: 3629–3642. 2005 ArticlePubMedCAS Google Scholar
Wan L, Battle DJ, Yong J et al. The survival of motor neurons protein determines the capacity for snRNP assembly: biochemical deficiency in spinal muscular atrophy.Mol Cell Biol 25: 5543–5551, 2005. ArticlePubMedCAS Google Scholar
Zhang HL, Pan F, Hong D, Shenoy SM, Singer RH, Bassell GJ. Active transport of the survival motor neuron protein and the role of exon-7 in cytoplasmic localization.J Neurosci 23: 6627–6637. 2003. PubMedCAS Google Scholar
Rossoll W, Jablonka S, Andreassi C et al. Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of beta-actin mRNA in growth cones of motoneurons.J Cell Biol 163: 801–812, 2003. ArticlePubMedCAS Google Scholar
Sharma A, Lambrechts A, Hao LT et al. A role for complexes of survival of motor neurons (SMN) protein with gemins and profilin in neurite-like cytoplasmic extensions of cultured nerve cells.Exp Cell Res 309: 185–197, 2005 ArticlePubMedCAS Google Scholar
Chan YB, Miguel-Aliaga I, Franks C et al. Neuromuscular defects in a_Drosophila_ survival motor neuron gene mutant.Hum Mol Genet 12: 1367–1376, 2003. ArticlePubMedCAS Google Scholar
McWhorter ML, Monani UR, Burghes AH, Beattie CE. Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding.J Cell Biol 162: 919–931, 2003. ArticlePubMedCAS Google Scholar
Winkler C, Eggert C, Gradl D et al. Reduced U snRNP assembly causes motor axon degeneration in an animal model for spinal muscular atrophy.Genes Dev 19: 2320–2330, 2005. ArticlePubMedCAS Google Scholar
Frugier T, Tiziano FD, Cifuentes-Diaz C et al. Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy.Hum Mol Genet 9: 849–858, 2000. ArticlePubMedCAS Google Scholar
Hsieh-Li HM, Chang JG, Jong YJ et al. A mouse model for spinal muscular atrophy.Nat Genet 24: 66–70, 2000. ArticlePubMedCAS Google Scholar
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 9: 333–339, 2000. ArticlePubMedCAS Google Scholar
Le TT, Pham LT, Butchbach ME et al. SMNDelta7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN.Hum Mol Genet 14: 845–857, 2005. ArticlePubMedCAS Google Scholar
Kerr DA, Nery JP, Traystman RJ, Chau BN, Hardwick JM. Survival motor neuron protein modulates neuron-specific apoptosis.Proc Natl Acad Sci USA 97: 13312–13317, 2000. ArticlePubMedCAS Google Scholar
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 64: 1365–1370, 1999. ArticlePubMedCAS Google Scholar
Monani UR, McPherson JD, Burghes AH. Promoter analysis of the human centromeric and telomeric survival motor neuron genes (SMNC and SMNT).Biochim Biophys Acta 1445: 330–336, 1999. ArticlePubMedCAS Google Scholar
Rouget R, Vigneault F, Codio C et al. Characterization of the survival motor neuron (SMN) promoter provides evidence for complex combinatorial regulation in undifferentiated and differentiated P19 cells.Biochem J 385: 433–443, 2005. ArticlePubMedCAS Google Scholar
Baron-Delage S, Abadie A, Echaniz-Laguna A, Melki J, Beretta L. Interferons and IRF-1 induce expression of the survival motor neuron (SMN) genes.Mol Med 6: 957–968, 2000. PubMedCAS Google Scholar
Majumder S, Varadharaj S, Ghoshal K, Monani U, Burghes AH, Jacob ST. Identification of a novel cyclic AMP-response element (CRE-II) and the role of CREB-1 in the cAMP-induced expression of the survival motor neuron (SMN) gene.J Biol Chem 279: 14803–14811, 2004. ArticlePubMedCAS Google Scholar
Kemochan LE, Russo ML, Woodling NS et al. The role of histone acetylation in SMN gene expression.Hum Mol Genet 14: 1171–1182, 2005. Article Google Scholar
Chang JG, Hsieh-Li HM, Jong YJ, Wang NM, Tsai CH, Li H. Treatment of spinal muscular atrophy by sodium butyrate.Proc Natl Acad Sci USA 98: 9808–9813, 2001. ArticlePubMedCAS Google Scholar
Brichta L, Hofmann Y, Hahnen E et al. 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, 2003. ArticlePubMedCAS Google Scholar
Andreassi C, Angelozzi C, Tiziano FD et al. Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy.Eur J Hum Genet 12: 59–65, 2004. ArticlePubMedCAS Google Scholar
Brahe C, Vitali T, Tiziano FD et al. Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients.Eur J Hum Genet 13: 256–259, 2005. ArticlePubMedCAS Google Scholar
Russman BS, Iannaccone ST, Samaha FJ. A phase 1 trial of riluzole in spinal muscular atrophy.Arch Neurol 60: 1601–1603. 2003. ArticlePubMed Google Scholar
Miller RG, Moore DH, Dronsky V et al. A placebo-controlled trial of gabapentin in spinal muscular atrophy.J Neurol Sci 191: 127–131, 2001. ArticlePubMedCAS Google Scholar
Merlini L, Solari A, Vita G et al. Role of gabapentin in spinal muscular atrophy: results of a multicenter, randomized Italian study.J Child Neurol 18: 537–541, 2003. ArticlePubMed Google Scholar
Butchbach M, Le TT, Burghes AHM. Protective effects of butyrate analogues and prodrugs on a mouse model for spinal muscular atrophy.Neurosci Meeting 23: 27, 2004. Google Scholar
Ryu H, Smith K, Camelo SI et al. Sodium phenylbutyrate prolongs survival and regulates expression of anti-apoptotic genes in transgenic amyotrophic lateral sclerosis mice.J Neurochem 93: 1087–1093, 2005. ArticlePubMedCAS Google Scholar
Grzeschik SM, Ganta M, Prior TW, Heavlin WD, Wang CH. Hydroxyurea enhances SMN2 gene expression in spinal muscular atrophy cells.Ann Neurol 58: 194–202, 2005. ArticlePubMedCAS Google Scholar
Jarecki J, Chen X, Bernardino A et al. Diverse small-molecule modulators of SMN expression found by high-throughput compound screening: early leads towards a therapeutic for spinal muscular atrophy.Hum Mol Genet 14: 2003–2018, 2005. ArticlePubMedCAS Google Scholar
Lorson CL, Androphy EJ. An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN.Hum Mol Genet 9: 259–265, 2000. ArticlePubMedCAS Google Scholar
Cartegni L, Krainer AR. Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1.Nat Genet 30: 377–384, 2002. ArticlePubMedCAS Google Scholar
Kashima T, Manley JL. A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy.Nat Genet 34: 460–463, 2003. ArticlePubMedCAS Google Scholar
Hofmann Y, Lorson CL, Stamm S, Androphy EJ, Wirth B. Htra2-beta 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2).Proc Natl Acad Sci USA 97: 9618–9623, 2000. ArticlePubMedCAS Google Scholar
Hofmann Y, Wirth B. hnRNP-G promotes exon 7 inclusion of survival motor neuron (SMN) via direct interaction with Htra2-betal.Hum Mol Genet 11: 2037–2049, 2002. ArticlePubMedCAS Google Scholar
Young PJ, DiDonato CJ, Hu D, Kothary R, Androphy EJ, Lorson CL. SRp30c-dependent stimulation of survival motor neuron (SMN) exon 7 inclusion is facilitated by a direct interaction with hTra2 beta 1.Hum Mol Genet 11: 577–587, 2002. ArticlePubMedCAS Google Scholar
Andreassi C, Jarecki J, Zhou J et al. Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients.Hum Mol Genet 10: 2841–2849, 2001. ArticlePubMedCAS Google Scholar
Cartegni L, Krainer AR. Correction of disease-associated exon skipping by synthetic exon-specific activators.Nat Struct Biol 10: 120–125, 2003. ArticlePubMedCAS Google Scholar
Skordis LA, Dunckley MG, Yue B, Eperon IC, Muntoni F. Bi-functional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates SMN2 gene expression in patient fibroblasts.Proc Natl Acad Sci USA 100: 4114–4119, 2003. ArticlePubMedCAS Google Scholar
Lunn MR, Root DE, Martino AM et al. Indoprofen upregulates the survival motor neuron protein through a cyclooxygenase-independent mechanism.Chem Biol 11: 1489–1493, 2004. ArticlePubMedCAS Google Scholar
Wolstencroft EC, Mattis V, Bajer AA, Young PJ, Lorson CL. A non-sequence-specific requirement for SMN protein activity: the role of aminoglycosides in inducing elevated SMN protein levels.Hum Mol Genet 14: 1199–1210, 2005. ArticlePubMedCAS Google Scholar
Chang HC, Hung WC, Chuang YJ, Jong YJ. Degradation of survival motor neuron (SMN) protein is mediated via the ubiquitin/ proteasome pathway.Neurochem Int 45: 1107–1112, 2004. ArticlePubMedCAS Google Scholar
Haddad H, Cifuentes-Diaz C, Miroglio A, Roblot N, Joshi V, Melki J. Riluzole attenuates spinal muscular atrophy disease progression in a mouse model.Muscle Nerve 28: 432–437, 2003. ArticlePubMedCAS Google Scholar
Lesbordes JC, Cifuentes-Diaz C, Miroglio A et al. Therapeutic benefits of cardiotrophin-1 gene transfer in a mouse model of spinal muscular atrophy.Hum Mol Genet 12: 1233–1239, 2003. ArticlePubMedCAS Google Scholar
Azzouz M, Le T, Ralph GS et al. Lentivector-mediated SMN replacement in a mouse model of spinal muscular atrophy.J Clin Invest 114: 1726–1731, 2004. PubMedCAS Google Scholar
Harper JM, Krishnan C, Darman JS et al. Axonal growth of embryonic stem cell-derived motoneurons in vitro and in motoneuron-injured adult rats.Proc Natl Acad Sci USA 101: 7123–7128. 2004. ArticlePubMedCAS Google Scholar
Kirkinezos IG, Hernandez D, Bradley WG, Moraes CT. Regular exercise is beneficial to a mouse model of amyotrophic lateral sclerosis.Ann Neurol 53: 804–807, 2003. ArticlePubMed Google Scholar
Mahoney DJ, Rodriguez C, Devries M, Yasuda N, Tarnopolsky MA. Effects of high-intensity endurance exercise training in the G93A mouse model of amyotrophic lateral sclerosis.Muscle Nerve 29: 656–662, 2004. ArticlePubMed Google Scholar
Grondard C, Biondi O, Armand AS et al. Regular exercise prolongs survival in a type 2 spinal muscular atrophy model mouse.J Neurosci 25: 7615–7622, 2005. ArticlePubMedCAS Google Scholar
Bertini E, Burghes A, Bushby K, et al. 134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy11–13 February 2005, Naarden, The Netherlands.Neuromuscul Disord 15: 802–816, 2005. ArticlePubMedCAS Google Scholar
Iannaccone ST. Outcome measures for pediatric spinal muscular atrophy.Arch Neurol 59: 1445–1450, 2002. ArticlePubMed Google Scholar
Iannaccone ST, Hynan LS. Reliability of 4 outcome measures in pediatric spinal muscular atrophy.Arch Neurol 60: 1130–1136, 2003. ArticlePubMed Google Scholar
Sumner C, Kolb, SJ, Harmison, GG, Jeffries, NO, Schadt, K, Finkel, RS, Dreyfuss, G, Fischbeck, KH. SMN mRNA and protein levels in peripheral blood: biomarkers for SMA clinical trials.Neurology, in press.