Biomarker for Spinal Muscular Atrophy: Expression of SMN in Peripheral Blood of SMA Patients and Healthy Controls

PLoS One. 2015 Oct 15;10(10):e0139950. doi: 10.1371/journal.pone.0139950. eCollection 2015.

Abstract

Spinal muscular atrophy is caused by a functional deletion of SMN1 on Chromosome 5, which leads to a progressive loss of motor function in affected patients. SMA patients have at least one copy of a similar gene, SMN2, which produces functional SMN protein, although in reduced quantities. The severity of SMA is variable, partially due to differences in SMN2 copy numbers. Here, we report the results of a biomarker study characterizing SMA patients of varying disease severity. SMN copy number, mRNA and Protein levels in whole blood of patients were measured and compared against a cohort of healthy controls. The results show differential regulation of expression of SMN2 in peripheral blood between patients and healthy subjects.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Biological Assay
  • Biomarkers / blood*
  • Case-Control Studies
  • Child
  • Child, Preschool
  • DNA Copy Number Variations*
  • Female
  • Humans
  • Male
  • Muscular Atrophy, Spinal / blood*
  • Muscular Atrophy, Spinal / diagnosis*
  • Muscular Atrophy, Spinal / genetics
  • Prognosis
  • Real-Time Polymerase Chain Reaction
  • Survival of Motor Neuron 1 Protein / blood*
  • Survival of Motor Neuron 1 Protein / genetics
  • Survival of Motor Neuron 2 Protein / blood
  • Survival of Motor Neuron 2 Protein / genetics
  • Young Adult

Substances

  • Biomarkers
  • SMN1 protein, human
  • SMN2 protein, human
  • Survival of Motor Neuron 1 Protein
  • Survival of Motor Neuron 2 Protein

Grants and funding

The study was entirely funded by F. Hoffmann–La Roche. The funder provided support in the form of salaries for authors CC, WT, TB, CM, CH, VAI, SF and TK, but did not have any additional role in the study design, data collection and analysis, decision to publish or preparation of the manuscript. The specific roles of these authors are articulated in the ‘author contributions’ section.