Archives of neurology · 2010
Association of plastin 3 expression with disease severity in spinal muscular atrophy only in postpubertal females.
СтатьяПоддержка NIH: внешняя программаПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод пока не подготовлен
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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
Аннотация
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.
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.