Association of Plastin 3 Expression With Disease Severity in Spinal Muscular Atrophy Only in Postpubertal Females

作者：Stratigopoulos George; Lanzano Patricia; Deng Liyong; Guo Jiancheng; Kaufmann Petra; Darras Basil; Finkel Richard; Tawil Rabi; McDermott Michael P; Martens William; DeVivo Darryl C; Chung Wendy K^*

来源：Archives of Neurology, 2010, 67(10): 1252-1256.

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.

• 出版日期2010-10