DNA From Saliva Has Potential for Detecting SMA

A noninvasive method using dried saliva and polymerase chain reaction (PCR) testing holds potential as an alternative to blood-based genetic assays as a screening tool for children with spinal muscular atrophy (SMA), according to a recent study in the journal Genes.

Newly available therapies that target the survival motor neuron 1 (SMN1) gene, which is missing in patients with SMA have better outcomes when administered at an earlier stage of disease. But newborn screening for SMA is not widespread. Additionally, milder symptoms can make a diagnosis more difficult.

To increase diagnosis rate, investigators in the Genes study developed a new, noninvasive screening system using dried saliva spots (DSS) as an alternative DNA source to detect deletion SMN1 and as a complement to newborn screening. More than 90% of cases of SMA are caused by deletion of SMN1.

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