Splicing of the Survival Motor Neuron genes and implications for treatment of SMA

Front Biosci (Landmark Ed). 2010 Jun 1;15(3):1191-1204. doi: 10.2741/3670.

Abstract

Proximal spinal muscular atrophy (SMA) is a neuromuscular disease caused by low levels of the survival motor neuron (SMN) protein. The reduced SMN levels are due to loss of the survival motor neuron-1 (SMN1) gene. Humans carry a nearly identical SMN2 gene that generates a truncated protein, due to a C to T nucleotide alteration in exon 7 that leads to inefficient RNA splicing of exon 7. This exclusion of SMN exon 7 is central to the onset of the SMA disease, however, this offers a unique therapeutic intervention in which corrective splicing of the SMN2 gene would restore SMN function. Exon 7 splicing is regulated by a number of exonic and intronic splicing regulatory sequences and trans-factors that bind them. A better understanding of the way SMN pre-mRNA is spliced has lead to the development of targeted therapies aimed at correcting SMN2 splicing. As therapeutics targeted toward correction of SMN2 splicing continue to be developed available SMA mouse models can be utilized in validating their potential in disease treatment.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Disease Models, Animal
  • Exons / genetics
  • Humans
  • Muscular Atrophy, Spinal / genetics*
  • Muscular Atrophy, Spinal / metabolism
  • Muscular Atrophy, Spinal / therapy
  • Mutation
  • RNA Precursors / genetics
  • RNA Precursors / metabolism
  • RNA Splicing*
  • Survival of Motor Neuron 1 Protein / genetics*
  • Survival of Motor Neuron 1 Protein / metabolism
  • Survival of Motor Neuron 2 Protein / genetics*
  • Survival of Motor Neuron 2 Protein / metabolism

Substances

  • RNA Precursors
  • Survival of Motor Neuron 1 Protein
  • Survival of Motor Neuron 2 Protein