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| Status |
Public on Jan 31, 2015 |
| Title |
Modeling the early phenotype at the neuromuscular junction of spinal muscular atrophy using patient-derived iPSCs |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by array
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| Summary |
Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by mutations of the survival of motor neuron 1 (SMN1) gene. In the pathogenesis of SMA, pathological changes of the neuromuscular junction (NMJ) precede the motor neuronal loss. Therefore, it is critical to evaluate the NMJ formed by SMA patients’ motor neurons (MNs), and to identify drugs that can restore the normal condition. We generated NMJ-like structures using motor neurons (MNs) derived from SMA patient-specific induced pluripotent stem cells (iPSCs), and found that the clustering of the acetylcholine receptor (AChR) is significantly impaired. Valproic acid and antisense oligonucleotide treatment ameliorated the AChR clustering defects, leading to an increase in the level of full-length SMN transcripts. Thus, the current in vitro model of AChR clustering using SMA patient-derived iPSCs is useful to dissect the pathophysiological mechanisms underlying the development of SMA, and to evaluate the efficacy of new therapeutic approaches.
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| Overall design |
To compare the gene expression pattern between control and patient derived iPSCs
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| Contributor(s) |
Yoshida M, Watanabe A |
| Citation missing |
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| |
| Submission date |
Jan 30, 2015 |
| Last update date |
Apr 23, 2018 |
| Contact name |
Megumu Saito |
| E-mail(s) |
msaito@cira.kyoto-u.ac.jp
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| Organization name |
Kyoto University
|
| Street address |
53, Shogoin-Kawahara
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| City |
Kyoto |
| ZIP/Postal code |
6068507 |
| Country |
Japan |
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| Platforms (1) |
| GPL17077 |
Agilent-039494 SurePrint G3 Human GE v2 8x60K Microarray 039381 (Probe Name version) |
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| Samples (8)
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| Relations |
| BioProject |
PRJNA274131 |
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