Antisense Oligonucleotide-Mediated Terminal Intron Retention of the SMN2 Transcript.

ABSTRACT: The severe childhood disease spinal muscular atrophy (SMA) arises from the homozygous loss of the survival motor neuron 1 gene (SMN1). A homologous gene potentially encoding an identical protein, SMN2 can partially compensate for the loss of SMN1; however, the exclusion of a critical exon in the coding region during mRNA maturation results in insufficient levels of functional protein. The rate of transcription is known to influence the alternative splicing of gene transcripts, with a fast transcription rate correlating to an increase in alternative splicing. Conversely, a slower transcription rate is more likely to result in the inclusion of all exons in the transcript. Targeting SMN2 with antisense oligonucleotides to influence the processing of terminal exon 8 could be a way to slow tran

SUBMITTER: Flynn LL 

PROVIDER: S-EPMC5854547 | biostudies-literature | 2018 Jun

REPOSITORIES: biostudies-literature