title: Correlation of PLS3 expression with disease severity in children with spinal muscular atrophy.
abstract: Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disease in children caused by homozygous deletion of the survival motor neuron 1 gene (SMN1). Plastin 3 (PLS3) has been identified as a protective modifier of SMA. We analyzed the levels of PLS3 expression in peripheral blood from 65 children with SMA and 59 healthy controls by using real-time PCR. In healthy controls, younger children (3 years) showed >1.75-fold higher levels of PLS3 expression than did older child cohorts (∼3-6 years, ∼6-12 years and >12 years). In the older female subjects with SMA (>3 years), PLS3 expression was 56.7% lower in type II subjects than in type III patients (P=0.011). When these female subjects carried three copies of SMN2, PLS3 expression was 62.6% lower in the type II subjects than in type III subjects (P=0.008). Moreover, there was a trend toward higher PLS3 expression in older female patients who could walk unaided (>3 years and SMN2 copy number=3) than those who could not. However, these differences were not observed in male subjects examined by SMA clinical type and SMN2 copy number (P>0.05). We concluded that the PLS3 gene may have an age- and gender-specific role in the clinical severity of SMA in children afflicted with this condition.
authors.affiliation: Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, China.
authors.forename: Cao
authors.initials: C
authors.lastname: Yanyan
authors.affiliation: Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, China.
authors.forename: Qu
authors.initials: Q
authors.lastname: Yujin
authors.affiliation: Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, China.
authors.forename: Bai
authors.initials: B
authors.lastname: Jinli
authors.affiliation: Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, China.
authors.forename: Jin
authors.initials: J
authors.lastname: Yuwei
authors.affiliation: Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, China.
authors.forename: Wang
authors.initials: W
authors.lastname: Hong
authors.affiliation: Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, China.
authors.forename: Song
authors.initials: S
authors.lastname: Fang
mesh_terms: D000367:Age Factors; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D005260:Female; D018628:Gene Dosage; D015870:Gene Expression; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D008840:Microfilament Proteins / Q000235:genetics*; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis* / Q000235:genetics*; D012720:Severity of Illness Index; D012737:Sex Factors; D055540:Survival of Motor Neuron 2 Protein / Q000235:genetics
chemical_list: D008562:Membrane Glycoproteins; D008840:Microfilament Proteins; D055540:Survival of Motor Neuron 2 Protein; C026742:plastin