Antisense oligonucleotides shed new light on the pathogenesis and treatment of spinal muscular atrophy

Molecular Therapy

Volumn 20, Issue 1, 2012, Pages 8-10

  Yee, Jiing Kuan ^a   Lin, Ren Jang ^a  

^a CITY OF HOPE NATIONAL MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANTISENSE OLIGONUCLEOTIDE; PARVOVIRUS VECTOR; SOMATOMEDIN C; SURVIVAL MOTOR NEURON PROTEIN;

DRUG RESPONSE; EXON; GENE; HUMAN; NONHUMAN; NONVIRAL GENE DELIVERY SYSTEM; NOTE; PATHOGENESIS; PROTEIN FUNCTION; PROTEIN LOCALIZATION; RNA SPLICING; RNA TRANSCRIPTION; SMN1 GENE; SMN2 GENE; SPINAL MUSCULAR ATROPHY; VIRAL GENE THERAPY;

EID: 84856951034     PISSN: 15250016     EISSN: 15250024     Source Type: Journal    
DOI: 10.1038/mt.2011.275     Document Type: Note

References (14)

1. Monani, UR (2005). Spinal muscular atrophy: a deficiency in a ubiquitous protein; a motor neuron-specific disease. Neuron 48: 885-896. (Pubitemid 41814694)
2. Lunn, MR and Wang, CH (2008). Spinal muscular atrophy. Lancet 371: 2120-2133. (Pubitemid 351842582)
3. Hua, Y, Sahashi, K, Rigo, F, Hung, G, Horev, G, Bennett, CF et al. (2011). Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model. Nature 478: 123-126.
4. Singh, NK, Singh, NN, Androphy, EJ and Singh, RN (2006). Splicing of a critical exon of human Survival Motor Neuron is regulated by a unique silencer element located in the last intron. Mol Cell Biol 26: 1333-1346. (Pubitemid 43202560)
5. Hua, Y, Sahashi, K, Hung, G, Rigo, F, Passini, MA, Bennett, CF et al. (2010). Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model. Genes Dev 24: 1634-1644.
6. Foust, KD, Wang, X, McGovern, VL, Braun, L, Bevan, AK, Haidet, AM et al. (2010). Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN. Nat Biotechnol 28: 271-274.
7. Passini, MA, Bu, J, Roskelley, EM, Richards, AM, Sardi, SP, O'Riordan, CR et al. (2010). CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy. J Clin Invest 120: 1253-1264.
8. Domene, HM, Hwa, V, Argente, J, Wit, JM, Camacho-Hubner, C, Jasper, HG et al. (2009). Human acid-labile subunit deficiency: clinical, endocrine and metabolic consequences. Horm Res 72: 129-141.
9. Bosch-Marce, M, Wee, CD, Martinez, TL, Lipkes, CE, Choe, DW, Kong, L et al. (2011). Increased IGF-1 in muscle modulates the phenotype of severe SMA mice. Hum Mol Genet 20: 1844-1853.
10. Shababi, M, Glascock, J and Lorson, CL (2011). Combination of SMN trans-splicing and a neurotrophic factor increases the life span and body mass in a severe model of spinal muscular atrophy. Hum Gene Ther 22: 135-144.
11. Powell-Braxton, L, Hollingshead, P, Warburton, C, Dowd, M, Pitts-Meek, S, Dalton, D et al. (1993). IGF-1 is required for normal embryonic growth in mice. Genes Dev 7: 2609-2617. (Pubitemid 24021017)
12. Ebert, AD, Yu, J, Rose, FF Jr, Mattis, VB, Lorson, CL, Thomson, JA et al. (2009). Induced pluripotent stem cells from a spinal muscular atrophy patient. Nature 457: 277-280.
13. Chang, T, Zheng, W, Tsark, W, Bates, SE, Huang, H, Lin, RJ et al. (2011). Phenotypic rescue of induced pluripotent stem cell-derived motoneurons of a spinal muscular atrophy patient. Stem Cells 29: 2090-2093.
14. Cooper, TA, Wan, L and Dreyfuss, G (2009). RNA and disease. Cell 136: 777-793.