Dysregulation of ubiquitin homeostasis and β-catenin signaling promote spinal muscular atrophy

Publikation: Beitrag in FachzeitschriftForschungsartikelBeigetragenBegutachtung

Beitragende

  • Thomas M. Wishart - , University of Edinburgh (Autor:in)
  • Chantal A. Mutsaers - , University of Edinburgh (Autor:in)
  • Markus Riessland - , Universität zu Köln (Autor:in)
  • Michell M. Reimer - , University of Edinburgh (Autor:in)
  • Gillian Hunter - , University of Edinburgh (Autor:in)
  • Marie L. Hannam - , Peninsula Medical School Universities of Exeter and Plymouth (Autor:in)
  • Samantha L. Eaton - , University of Edinburgh (Autor:in)
  • Heidi R. Fuller - , The Robert Jones and Agnes Hunt Orthopaedic and District Hospital NHS Trust, Keele University (Autor:in)
  • Sarah L. Roche - , University of Edinburgh (Autor:in)
  • Eilidh Somers - , University of Edinburgh (Autor:in)
  • Robert Morse - , University of Exeter (Autor:in)
  • Philip J. Young - , University of Exeter (Autor:in)
  • Douglas J. Lamont - , University of Dundee (Autor:in)
  • Matthias Hammerschmidt - , Universität zu Köln (Autor:in)
  • Anagha Joshi - , University of Edinburgh (Autor:in)
  • Peter Hohenstein - , University of Edinburgh (Autor:in)
  • Glenn E. Morris - , The Robert Jones and Agnes Hunt Orthopaedic and District Hospital NHS Trust, Keele University (Autor:in)
  • Simon H. Parson - , University of Edinburgh, University of Aberdeen (Autor:in)
  • Paul A. Skehel - , University of Edinburgh (Autor:in)
  • Thomas Becker - , University of Edinburgh (Autor:in)
  • Iain M. Robinson - , Peninsula Medical School Universities of Exeter and Plymouth (Autor:in)
  • Catherina G. Becker - , University of Edinburgh (Autor:in)
  • Brunhilde Wirth - , Universität zu Köln (Autor:in)
  • Thomas H. Gillingwater - , University of Edinburgh (Autor:in)

Abstract

The autosomal recessive neurodegenerative disease spinal muscular atrophy (SMA) results from low levels of survival motor neuron (SMN) protein; however, it is unclear how reduced SMN promotes SMA development. Here, we determined that ubiquitin-dependent pathways regulate neuromuscular pathology in SMA. Using mouse models of SMA, we observed widespread perturbations in ubiquitin homeostasis, including reduced levels of ubiquitin-like modifier activating enzyme 1 (UBA1). SMN physically interacted with UBA1 in neurons, and disruption of Uba1 mRNA splicing was observed in the spinal cords of SMA mice exhibiting disease symptoms. Pharmacological or genetic suppression of UBA1 was sufficient to recapitulate an SMA-like neuromuscular pathology in zebrafish, suggesting that UBA1 directly contributes to disease pathogenesis. Dysregulation of UBA1 and subsequent ubiquitination pathways led to β-catenin accumulation, and pharmacological inhibition of β-catenin robustly ameliorated neuromuscular pathology in zebrafish, Drosophila, and mouse models of SMA. UBA1-associated disruption of β-catenin was restricted to the neuromuscular system in SMA mice; therefore, pharmacological inhibition of β-catenin in these animals failed to prevent systemic pathology in peripheral tissues and organs, indicating fundamental molecular differences between neuromuscular and systemic SMA pathology. Our data indicate that SMA-associated reduction of UBA1 contributes to neuromuscular pathogenesis through disruption of ubiquitin homeostasis and subsequent β-catenin signaling, highlighting ubiquitin homeostasis and β-catenin as potential therapeutic targets for SMA.

Details

OriginalspracheEnglisch
Seiten (von - bis)1821-1834
Seitenumfang14
FachzeitschriftJournal of Clinical Investigation
Jahrgang124
Ausgabenummer4
PublikationsstatusVeröffentlicht - 3 März 2014
Peer-Review-StatusJa
Extern publiziertJa

Externe IDs

PubMed 24590288

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