Association of plastin 3 expression with disease severity in spinal muscular atrophy only in postpubertal females

Arch Neurol. 2010 Oct;67(10):1252-6. doi: 10.1001/archneurol.2010.239.


Objective: To investigate the potential association of plastin 3 (PLS3) expression levels in the blood with disease severity in spinal muscular atrophy (SMA).

Design: Measurement of PLS3 messenger RNA levels in the blood of patients with types I, II, and III SMA.

Setting: Pediatric Neuromuscular Clinical Research Network SMA Natural History study.

Participants: A cohort of 88 patients of both sexes who had SMA.

Main outcome measures: Levels of PLS3 messenger RNA in relation to SMA type and SMN2 copy number.

Results: Prepubertal female and younger male (<11 years) patients had approximately 2-fold-higher levels of PLS3 expression than did postpubertal female and older male (≥11 years) patients, respectively (P ≤ .001). Expression of PLS3 in male patients did not correlate with SMA clinical type or SMN2 copy number in either age group (P > .10). In postpubertal female patients, PLS3 expression was greatest in patients with type III SMA, was intermediate in patients with type II SMA, and was lowest in patients with type I SMA. Expression of PLS3 correlated with SMA type, SMN2 copy number, and the gross motor function measure only in postpubertal female patients.

Conclusion: The PLS3 gene may be an age- and/or puberty-specific and sex-specific modifier of SMA.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age Factors
  • Child
  • Female
  • Gene Expression Regulation, Developmental / physiology*
  • Humans
  • Male
  • Membrane Glycoproteins / genetics
  • Membrane Glycoproteins / metabolism*
  • Microfilament Proteins / genetics
  • Microfilament Proteins / metabolism*
  • Muscular Atrophy, Spinal / classification
  • Muscular Atrophy, Spinal / metabolism*
  • Pediatrics
  • RNA, Messenger / genetics
  • Sex Characteristics*
  • Statistics, Nonparametric


  • Membrane Glycoproteins
  • Microfilament Proteins
  • RNA, Messenger
  • plastin