Autophagy dysregulation in cell culture and animals models of spinal muscular atrophy

Sara K. Custer, Elliot J. Androphy

Research output: Contribution to journalArticle

21 Scopus citations


Abnormal autophagy has become a central thread linking neurodegenerative diseases, particularly of the motor neuron. One such disease is spinal muscular atrophy (SMA), a genetic neuromuscular disorder caused by mutations in the SMN1 gene resulting in low levels of Survival Motor Neuron (SMN) protein. Despite knowing the causal protein, the exact intracellular processes that are involved in the selective loss of motor neurons remain unclear. Autophagy induction can be helpful or harmful depending on the situation, and we sought to understand the state of the autophagic response in SMA. We show that cell culture and animal models demonstrate induction of autophagy accompanied by attenuated autophagic flux, resulting in the accumulation of autophagosomes and their associated cargo. Expression of the SMN-binding protein a-COP, a known modulator of autophagic flux, can ameliorate this autophagic traffic jam.

Original languageEnglish (US)
Pages (from-to)133-140
Number of pages8
JournalMolecular and Cellular Neuroscience
StatePublished - Jul 2014


  • Autophagy
  • Motor neuron
  • Spinal muscular atrophy
  • Survival motor neuron

ASJC Scopus subject areas

  • Molecular Biology
  • Cellular and Molecular Neuroscience
  • Cell Biology
  • Medicine(all)

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