| Summary: | Spinal muscular atrophy (SMA) is a lower motor neuron disease, once considered incurable. The main symptoms are muscle weakness and muscular atrophy. More than 90% of cases of SMA are caused by homozygous deletion of survival motor neuron 1 (<i>SMN1</i>). Emerging treatments, such as splicing modulation of <i>SMN2</i> and <i>SMN</i> gene replacement therapy, have improved the prognoses and motor functions of patients. However, confirmed diagnosis by <i>SMN1</i> testing is often delayed, suggesting the presence of diagnosis-delayed or undiagnosed cases. To enable patients to access the right treatments, a screening system for SMA is essential. Even so, the current newborn screening system using dried blood spots is still invasive and cumbersome. Here, we developed a completely non-invasive screening system using dried saliva spots (DSS) as an alternative DNA source to detect <i>SMN1</i> deletion. In this study, 60 DSS (40 SMA patients and 20 controls) were tested. The combination of modified competitive oligonucleotide priming-polymerase chain reaction and melting peak analysis clearly distinguished DSS samples with and without <i>SMN1</i>. In conclusion, these results suggest that our system with DSS is applicable to SMA patient detection in the real world.
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