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

Abstract

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.

• Authors: George Stratigopoulos, Patricia Lanzano, Liyong Deng, Jiancheng Guo, Petra Kaufmann, Basil Darras, Richard Finkel, Rabi Tawil, Michael P McDermott, William Martens, Darryl C Devivo, Wendy K Chung
• Journal: Archives of neurology (Arch Neurol) Vol. 67 Issue 10 Pg. 1252-6 (Oct 2010) ISSN: 1538-3687 [Electronic] United States
• PMID: 20937953 (Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)

Chemical References

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

Topics

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