Source:http://linkedlifedata.com/resource/pubmed/id/17303423
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
4
|
| pubmed:dateCreated |
2007-4-9
|
| pubmed:abstractText |
The objective of this study is to expand the applications of MyoD-forced myogenesis for research and diagnosis of human muscle disorders using a lentiviral vector (LVhMyoD) for efficient trans-differentiation of patient primary cells. LVhMyoD transduced cells readily formed striated, multinucleate myotubes expressing a wide range of genes associated with muscular dystrophy (dystrophin, dysferlin, sarcoglycans, caveolin-3) and congenital myopathy (nebulin, actin, desmin, tropomyosin, troponin). We demonstrate that MyoD gene-modified fibroblasts reproduce protein deficiencies associated with different forms of muscular dystrophy, and confirm that LVhMyoD gene-modified chorionic villus can be used successfully to determine the dystrophin status of the developing fetus, augmenting prenatal diagnosis of dystrophinopathy patients. Using muscle-specific cDNA derived from LVhMyoD gene-modified patient cells, we identified a female carrier bearing a large dystrophin deletion and a previously unidentified non-coding splice-site mutation within dystrophin in a Becker muscular dystrophy patient. This study highlights the significant potential of lentiviral MyoD-forced myogenesis for study of a wide range of human muscle disorders; a field constrained by the limited availability of human tissue. LVhMyoD gene-modified patient cells provide a renewable source of mutant protein and muscle-specific mRNA, facilitating accelerated mutation screening of large genes, molecular analyses of splicing abnormalities and study of disease-causing mutations.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Apr
|
| pubmed:issn |
0960-8966
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| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
17
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| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
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| pubmed:pagination |
276-84
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| pubmed:meshHeading |
pubmed-meshheading:17303423-Actinin,
pubmed-meshheading:17303423-Cell Differentiation,
pubmed-meshheading:17303423-Cells, Cultured,
pubmed-meshheading:17303423-Chorionic Villi,
pubmed-meshheading:17303423-DNA Mutational Analysis,
pubmed-meshheading:17303423-Dystrophin,
pubmed-meshheading:17303423-Female,
pubmed-meshheading:17303423-Fibroblasts,
pubmed-meshheading:17303423-Humans,
pubmed-meshheading:17303423-Lentivirus,
pubmed-meshheading:17303423-Male,
pubmed-meshheading:17303423-Muscle Development,
pubmed-meshheading:17303423-Muscular Dystrophies,
pubmed-meshheading:17303423-Mutation,
pubmed-meshheading:17303423-MyoD Protein,
pubmed-meshheading:17303423-Protein Deficiency,
pubmed-meshheading:17303423-RNA, Messenger,
pubmed-meshheading:17303423-Reverse Transcriptase Polymerase Chain Reaction,
pubmed-meshheading:17303423-Time Factors,
pubmed-meshheading:17303423-Transduction, Genetic
|
| pubmed:year |
2007
|
| pubmed:articleTitle |
Dystrophinopathy carrier determination and detection of protein deficiencies in muscular dystrophy using lentiviral MyoD-forced myogenesis.
|
| pubmed:affiliation |
Neurogenetics Research Unit and Institute for Neuromuscular Research, The Children's Hospital at Westmead, Locked Bag 4001, Sydney, NSW 2145, Australia. SandraC3@chw.edu.au
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| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|