Linked Life Data

19796079

Source:http://linkedlifedata.com/resource/pubmed/id/19796079

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PredicateObject
rdf:type
lifeskim:mentions
pubmed:dateCreated
2009-10-2
pubmed:abstractText
Duchenne muscular dystrophy (DMD) is a severe muscle-wasting disease caused by frame shifting and nonsense mutations in the dystrophin gene. Through skipping of an (additional) exon from the pre-mRNA, the reading frame can be restored. This can be achieved with antisense oligonucleotides (AONs), which induce exon skipping by binding to splice sites or splice enhancer sites. The resulting protein will be shorter but at least partially functional. So far, exon skipping has been very successful in cell cultures, in mouse and dog models, and even in a first exploratory study in patients. Current research mainly focuses on optimization of systemic AON delivery. Here we give an overview of the available mouse models. To obtain the most informative results for future clinical application, research may have to move from the currently preferred mdx mouse to mouse models more comparable to patients, such as the utrophin/dystrophin-negative mouse and the hDMD mouse models. Further, we briefly discuss two AON backbone chemistries that are currently in clinical trials for DMD exon skipping. We propose that different chemistries should be further developed in parallel in order to hasten the transfer of the exon skipping therapy to the clinic.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
1749-6632
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
1175
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
71-9
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
Development of antisense-mediated exon skipping as a treatment for duchenne muscular dystrophy.
pubmed:affiliation
Duchenne Muscular Dystrophy Genetic Therapy Group, Department of Human Genetics, Leiden University, Medical Center, Leiden, the Netherlands.
pubmed:publicationType
Journal Article