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.
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Acknowledgements
This study was supported by National Natural Science Foundation of China (81050034) and Research Foundation of Capital Institute of Pediatrics (CIP2013-01). We would like to thank the patient and his parents for their collaboration in this investigation. We would also like to thank Editage for providing editorial assistance.
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Yanyan, C., Yujin, Q., Jinli, B. et al. Correlation of PLS3 expression with disease severity in children with spinal muscular atrophy. J Hum Genet 59, 24–27 (2014). https://doi.org/10.1038/jhg.2013.111
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DOI: https://doi.org/10.1038/jhg.2013.111
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