Gain of toxic function by long-term AAV9-mediated SMN overexpression in the sensorimotor circuit

Nat Neurosci. 2021 Jul;24(7):930-940. doi: 10.1038/s41593-021-00827-3. Epub 2021 Apr 1.

Abstract

The neurodegenerative disease spinal muscular atrophy (SMA) is caused by deficiency in the survival motor neuron (SMN) protein. Currently approved SMA treatments aim to restore SMN, but the potential for SMN expression beyond physiological levels is a unique feature of adeno-associated virus serotype 9 (AAV9)-SMN gene therapy. Here, we show that long-term AAV9-mediated SMN overexpression in mouse models induces dose-dependent, late-onset motor dysfunction associated with loss of proprioceptive synapses and neurodegeneration. Mechanistically, aggregation of overexpressed SMN in the cytoplasm of motor circuit neurons sequesters components of small nuclear ribonucleoproteins, leading to splicing dysregulation and widespread transcriptome abnormalities with prominent signatures of neuroinflammation and the innate immune response. Thus, long-term SMN overexpression interferes with RNA regulation and triggers SMA-like pathogenic events through toxic gain-of-function mechanisms. These unanticipated, SMN-dependent and neuron-specific liabilities warrant caution on the long-term safety of treating individuals with SMA with AAV9-SMN and the risks of uncontrolled protein expression by gene therapy.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Animals
  • Dependovirus
  • Ganglia, Spinal / metabolism
  • Ganglia, Spinal / pathology
  • Gene Transfer Techniques
  • Genetic Therapy / adverse effects
  • Genetic Vectors
  • Injections, Intraventricular
  • Mice
  • Motor Disorders / genetics
  • Motor Disorders / metabolism
  • Motor Disorders / pathology
  • Motor Neurons / metabolism*
  • Motor Neurons / pathology*
  • Nerve Degeneration* / genetics
  • Nerve Degeneration* / metabolism
  • Nerve Degeneration* / pathology
  • Survival of Motor Neuron 1 Protein / genetics
  • Survival of Motor Neuron 1 Protein / toxicity*

Substances

  • Survival of Motor Neuron 1 Protein