Antisense oligonucleotides and spinal muscular atrophy: skipping along

被引：28

作者：

Burghes, Arthur H. M. ^{[1
,2
]}

McGovern, Vicki L. ^{[1
]}

机构：

[1] Ohio State Univ, Dept Mol & Cellular Biochem, Columbus, OH 43210 USA

[2] Ohio State Univ, Dept Neurol, Columbus, OH 43210 USA

来源：

GENES & DEVELOPMENT | 2010年 / 24卷 / 15期

关键词：

Spinal muscular atrophy; SMN2; antisense oligonucleotide; splicing correction; spinal cord; mouse models; SURVIVAL MOTOR-NEURON; MOUSE MODEL; SPLICING ENHANCER; SINGLE NUCLEOTIDE; DETERMINING GENE; CRITICAL EXON; SMN2; GENE; PROTEIN; EXPRESSION; MICE;

D O I：

10.1101/gad.1961710

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Antisense oligonucleotides (ASOs) can be used to alter the splicing of a gene and either restore production of a required protein or eliminate a toxic product. In this issue of Genes & Development, Hua and colleagues (pp. 1634-1644) show that ASOs directed against an intron splice silencer (ISS) in the survival motor neuron 2 (SMN2) gene alter the amount of full-length SMN transcript in the nervous system, restoring SMN to levels that could correct spinal muscular atrophy (SMA).

引用

页码：1574 / 1579

页数：6

共 44 条

[1] Splicing of the Survival Motor Neuron genes and implications for treatment of SMA [J].

Bebee, Thomas W. ;

Gladman, Jordan T. ;

Chandler, Dawn S. .

FRONTIERS IN BIOSCIENCE-LANDMARK, 2010, 15 :1191-1204

[2] Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick? [J].

Burghes, Arthur H. M. ;

Beattie, Christine E. .

NATURE REVIEWS NEUROSCIENCE, 2009, 10 (08) :597-609

[3] Regulation of SMN Protein Stability [J].

Burnett, Barrington G. ;

Munoz, Eric ;

Tandon, Animesh ;

Kwon, Deborah Y. ;

Sumner, Charlotte J. ;

Fischbeck, Kenneth H. .

MOLECULAR AND CELLULAR BIOLOGY, 2009, 29 (05) :1107-1115

[4] Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy [J].

Butchbach, Matthew E. R. ;

Singh, Jasbir ;

Porsteinsdottir, Margret ;

Saieva, Luciano ;

Slominski, Elzbieta ;

Thurmond, John ;

Andresson, Thorkell ;

Zhang, Jun ;

Edwards, Jonathan D. ;

Simard, Louise R. ;

Pellizzoni, Livio ;

Jarecki, Jill ;

Burghes, Arthur H. M. ;

Gurney, Mark E. .

HUMAN MOLECULAR GENETICS, 2010, 19 (03) :454-467

[5] Correction of disease-associated exon skipping by synthetic exon-specific activators [J].

Cartegni, L ;

Krainer, AR .

NATURE STRUCTURAL BIOLOGY, 2003, 10 (02) :120-125

[6] Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1 [J].

Cartegni, L ;

Krainer, AR .

NATURE GENETICS, 2002, 30 (04) :377-384

[7] The survival motor neuron protein in spinal muscular atrophy [J].

Coovert, DD ;

Le, TT ;

McAndrew, PE ;

Strasswimmer, J ;

Crawford, TO ;

Mendell, JR ;

Coulson, SE ;

Androphy, EJ ;

Prior, TW ;

Burghes, AHM .

HUMAN MOLECULAR GENETICS, 1997, 6 (08) :1205-1214

[8] Vascular Perfusion Abnormalities in Infants with Spinal Muscular Atrophy [J].

de Queiroz Campos Araujo, Alexandra Prufer ;

Araujo, Mario ;

Swoboda, Kathryn J. .

JOURNAL OF PEDIATRICS, 2009, 155 (02) :292-294

[9] Intravenous Administration of Self-complementary AAV9 Enables Transgene Delivery to Adult Motor Neurons [J].

Duque, Sandra ;

Joussemet, Beatrice ;

Riviere, Christel ;

Marais, Thibaut ;

Dubreil, Laurence ;

Douar, Anne-Marie ;

Fyfe, John ;

Moullier, Philippe ;

Colle, Marie-Anne ;

Barkats, Martine .

MOLECULAR THERAPY, 2009, 17 (07) :1187-1196

[10] Dystrophin expression in the mdx mouse after localised and systemic administration of a morpholino antisense oligonucteotide [J].

Fletcher, S ;

Honeyman, K ;

Fall, AM ;

Harding, PL ;

Russell, J ;

Wilton, SD .

JOURNAL OF GENE MEDICINE, 2006, 8 (02) :207-216

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