Titre :
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Correlation of PLS3 expression with disease severity in children with spinal muscular atrophy
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Revue :
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Journal of human genetics, 59, 1
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Auteurs :
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Yanyan C ;
Yujin Q ;
Jinli B ;
Yuwei J ;
Hong W ;
Fang S
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Type de document :
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Article
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Année de publication :
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2014
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Pages :
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p. 24-27
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Langues:
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Anglais
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Mots-clés :
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âge
;
amyotrophie spinale
;
degré de sévérité
;
enfant
;
étude de cohorte
;
expression génique
;
gène PLS3
;
gène SMN1
;
sexe
|
Résumé :
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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.
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Lien associé :
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PLS3 expression and SMA phenotype: a commentary on correlation of PLS3 expression with disease severity in children with spinal muscular atrophy
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Pubmed / DOI :
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DOI : 10.1038/jhg.2013.111 / Pubmed : 24172247
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