miRNA in spinal muscular atrophy pathogenesis and therapy

Francesca Magri, Fiammetta Vanoli, Stefania Corti

Research output: Contribution to journalReview articlepeer-review

Abstract

Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease characterized by the selective death of lower motor neurons in the brain stem and spinal cord. SMA is caused by mutations in the survival motor neuron 1 gene (SMN1), leading to the reduced expression of the full-length SMN protein. microRNAs (miRNAs) are small RNAs that regulate post-transcriptional gene expression. Recent findings have suggested an important role for miRNAs in the pathogenesis of motor neuron diseases, including SMA. Motor neuron-specific miRNA dysregulation in SMA might be implicated in their selective vulnerability. In this study, we discuss recent findings regarding the consequences of SMN defects on miRNAs and their target mRNAs in motor neurons. Taken together, these data suggest that cell-specific changes in miRNAs are not only involved in the SMA motor neuron phenotype but can also be used as biomarkers and therapeutic targets.

Original languageEnglish
Pages (from-to)755-767
Number of pages13
JournalJournal of Cellular and Molecular Medicine
Volume22
Issue number2
DOIs
Publication statusPublished - Feb 1 2018

Keywords

  • biomarkers
  • microRNA
  • spinal muscular atrophy

ASJC Scopus subject areas

  • Molecular Medicine
  • Cell Biology

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