Common pathways of autoimmune inflammatory myopathies and genetic neuromuscular disorders

Minoru Satoh, Angela Ceribelli, Edward K L Chan

Research output: Contribution to journalArticlepeer-review


It has been shown that many hereditary motor neuron diseases are caused by mutation of RNA processing enzymes. Survival of motor neuron 1 (SMN1) is well-known as a causative gene for spinal muscular atrophy (SMA) and mutations of glycyl- and tyrosyl-tRNA synthetases are identified as a cause of distal SMA and Charcot-Marie-Tooth disease. Why and how the dysfunction of these ubiquitously expressed genes involved in RNA processing can cause a specific neurological disorder is not well understood. Interestingly, SMN complex has been identified recently as a new target of autoantibodies in polymyositis (PM). Autoantibodies in systemic rheumatic diseases are clinically useful biomarkers associated with a particular diagnosis, subset of a disease, or certain clinical characteristics. Many autoantibodies produced in patients with polymyositis/dermatomyositis (PM/DM) target RNA-protein complexes such as aminoacyl tRNA synthetases. It is interesting to note these same RNA-protein complexes recognized by autoantibodies in PM/DM are also responsible for genetic neuromuscular disease. Certain RNA-protein complexes are also targets of autoantibodies in paraneoplastic neurological disorders. Thus, there are several interesting associations between RNA-processing enzymes and neuromuscular disorders. Although pathogenetic roles of autoantibodies to intracellular antigens are generally considered unlikely, understanding the mechanisms of antigen selection in a particular disease and specific neurological symptoms caused by disruption of ubiquitous RNA-processing enzyme may help identify a common path in genetic neuromuscular disorders and autoimmunity in inflammatory myopathies.

Original languageEnglish
Pages (from-to)16-25
Number of pages10
JournalClinical Reviews in Allergy and Immunology
Issue number1
Publication statusPublished - Feb 2012


  • Aminoacyl tRNA synthetase
  • Autoantibodies
  • Inflammatory myopathy
  • Motor neuropathy
  • Paraneoplastic syndrome
  • Spinal muscular atrophy
  • Survival of motor neuron

ASJC Scopus subject areas

  • Immunology and Allergy

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