期刊
BMC NEUROSCIENCE
卷 10, 期 -, 页码 -出版社
BMC
DOI: 10.1186/1471-2202-10-142
关键词
-
资金
- FightSMA
- National Institutes of Health [R01 NS41584, R01 HD054413, AI053138]
Background: Spinal Muscular Atrophy (SMA) is the leading genetic cause of infantile death. It is caused by the loss of functional Survival Motor Neuron 1 (SMN1). There is a nearly identical copy gene, SMN2, but it is unable to rescue from disease due to an alternative splicing event that excises a necessary exon (exon 7) from the majority of SMN2-derived transcripts. While SMN Delta 7 protein has severely reduced functionality, the exon 7 sequences may not be specifically required for all activities. Therefore, aminoglycoside antibiotics previously shown to suppress stop codon recognition and promote translation read-through have been examined to increase the length of the SMN Delta 7 C-terminus. Results: Here we demonstrate that subcutaneous-administration of a read-through inducing compound (TC007) to an intermediate SMA model (Smn-/-; SMN2+/+; SMN Delta 7) had beneficial effects on muscle fiber size and gross motor function. Conclusion: Delivery of the read-through inducing compound TC007 reduces the disease-associated phenotype in SMA mice, however, does not significantly extend survival.
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