Researchers find evidence to reduce severity of infant disease

17 May 2016

Glasgow Caledonian University (GCU) researchers have found new evidence that therapeutic interventions involving a specific cell type in the peripheral nervous system can reduce the severity of the most common genetic killer of infants under two years old.

Spinal muscular atrophy (SMA) is a recessive disease caused by a genetic defect in the SMN1 gene. It manifests in various degrees of severity, which all have in common progressive muscle wasting and mobility impairment. There is no known cure.

Although classified as rare (1 in every 6,000 to 10,000 births is affected by SMA), it is the leading genetic killer of infants and toddlers, with approximately 95% of the most severely diagnosed cases resulting in death by the age of 18 months. Children with a less severe form of SMA face the prospect of progressive muscle wasting, loss of mobility and motor function.

GCU researcher Dr Gillian Hunter and colleagues at the University of Edinburgh have studied the effects of an increase of SMN protein to peripheral glial cells on the severity of SMA.

The team found that an increase in SMN protein levels to Schwann cells, the principal cells in the peripheral nervous system, significantly improved certain aspects of neuromuscular function.

Dr Hunter said: “This study provides evidence for a defined, intrinsic contribution of glial cells to SMA disease pathogenesis and suggests that, while there is currently no cure for SMA, therapies designed to include Schwann cells in their target tissues are likely to be required in order to rescue myelination defects and associated disease symptoms in severe SMA.”

The study was published in Human Molecular Genetics.