Spinal muscular atrophy: From approved therapies to future therapeutic targets for personalized medicine

Research output: Contribution to journalArticlepeer-review

Abstract

Spinal muscular atrophy (SMA) is a devastating childhood motor neuron disease that, in the most severe cases and when left untreated, leads to death within the first two years of life. Recent therapeutic advances have given hope to families and patients by compensating for the deficiency in survival motor neuron (SMN) protein via gene therapy or other genetic manipulation. However, it is now apparent that none of these therapies will cure SMA alone. In this review, we discuss the three currently licensed therapies for SMA, briefly highlighting their respective advantages and disadvantages, before considering alternative approaches to increasing SMN protein levels. We then explore recent preclinical research that is identifying and targeting dysregulated pathways secondary to, or independent of, SMN deficiency that may provide adjunctive opportunities for SMA. These additional therapies are likely to be key for the development of treatments that are effective across the lifespan of SMA patients.
Original languageEnglish
Article number100346
Number of pages19
JournalCell Reports Medicine
Volume2
Issue number7
Early online date20 Jul 2021
DOIs
Publication statusE-pub ahead of print - 20 Jul 2021

Keywords

  • apoptosis
  • cytoskeleton
  • gene therapy
  • neuroprotection
  • neuromuscular junction
  • SMN
  • splicing modulator
  • ubiquitination

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