RNA in spinal muscular atrophy: therapeutic implications of targeting.

ABSTRACT:

Introduction

Spinal muscular atrophy (SMA) is caused by low levels of the Survival Motor Neuron (SMN) protein due to deletions of or mutations in the SMN1 gene. Humans carry another nearly identical gene, SMN2, which mostly produces a truncated and less stable protein SMNΔ7 due to predominant skipping of exon 7. Elevation of SMN upon correction of SMN2 exon 7 splicing and gene therapy have been proven to be the effective treatment strategies for SMA.

Areas covered

This review summarizes existing and potential SMA therapies that are based on RNA targeting.We also discuss the mechanistic basis of RNA-targeting molecules.

Expert opinion

The discovery of intronic splicing silencer N1 (ISS-N1) was the first major step towards developing the currently a

SUBMITTER: Singh RN 

PROVIDER: S-EPMC7529864 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature