Label-free quantitative proteomic profiling identifies disruption of ubiquitin homeostasis as a key driver of Schwann cell defects in spinal muscular atrophy

A Aghamaleky Sarvestany, G Hunter… - Journal of proteome …, 2014 - ACS Publications
A Aghamaleky Sarvestany, G Hunter, A Tavendale, DJ Lamont, M Llavero Hurtado…
Journal of proteome research, 2014ACS Publications
Low levels of survival of motor neuron (SMN) protein cause the neuromuscular disease
spinal muscular atrophy (SMA), characterized by degeneration of lower motor neurons and
atrophy of skeletal muscle. Recent work demonstrated that low levels of SMN also trigger
pathological changes in Schwann cells, leading to abnormal axon myelination and
disrupted deposition of extracellular matrix proteins in peripheral nerve. However, the
molecular pathways linking SMN depletion to intrinsic defects in Schwann cells remained …
Low levels of survival of motor neuron (SMN) protein cause the neuromuscular disease spinal muscular atrophy (SMA), characterized by degeneration of lower motor neurons and atrophy of skeletal muscle. Recent work demonstrated that low levels of SMN also trigger pathological changes in Schwann cells, leading to abnormal axon myelination and disrupted deposition of extracellular matrix proteins in peripheral nerve. However, the molecular pathways linking SMN depletion to intrinsic defects in Schwann cells remained unclear. Label-free proteomics analysis of Schwann cells isolated from SMA mouse peripheral nerve revealed widespread changes to the Schwann cell proteome, including disruption to growth/proliferation, cell death/survival, and molecular transport pathways. Functional clustering analyses revealed significant disruption to a number of proteins contributing to ubiquitination pathways, including reduced levels of ubiquitin-like modifier activating enzyme 1 (Uba1). Pharmacological suppression of Uba1 in Schwann cells was sufficient to reproduce the defective myelination phenotype seen in SMA. These findings demonstrate an important role for SMN protein and ubiquitin-dependent pathways in maintaining Schwann cell homeostasis and provide significant additional experimental evidence supporting a key role for ubiquitin pathways and, Uba1 in particular, in driving SMA pathogenesis across a broad range of cells and tissues.
ACS Publications