By using laser imaging, the National University of Singapore (NUS) has discovered a possible treatment method for Spinal Muscular Atrophy (SMA). As it stands there is no cure for the devastating disease which is the most common genetic cause of infant death, but the NUS breakthrough gives a strong boost to the fight against SMA.
SMA is caused by deficiencies in the Survival Motor Neuron (SMN) gene which controls a variety of target genes and it has long been speculated that deregulation of these targets could contribute to SMA.
The research team used global genome analysis to find that a deficiency in the SMN gene impaired the Neurexin2 gene, which in turn limits the neurotransmitter release required for normal nerve cell functions.
The scientists used a zebrafish model, as the small fish has a relatively simple nervous system that allows detailed imaging of neuron behaviour.
When the scientists measured the activity of nerve cells in zebrafish using laser imaging, they found that nerve cells deficient for Neurexin2 or SMN could not be activated to the same level as healthy nerve cells.
This impairment consequently led to the reduction of muscular activity. Preliminary data showed that a restoration of Neurexin2 activity can partially recover neuron function in SMN deficient zebrafish.
