Spinal muscular atrophy (SMA) is caused by mutation of the Survival Motor Neuron 1 (SMN1) gene and is characterized by degeneration of spinal motor neurons. The severity of SMA is primarily influenced by copy number of the SMN2 gene. Although new data suggests additional modifier genes that lie outside the SMA locus exist and one gene that could modify SMA is the Zinc Finger Protein (ZPR1) gene.
The connection between ZPR1 gene and SMA was suspected more than a decade ago, but a group of scientists recently published an article about the effect of reduced ZPR1 expression in mice with mild and severe SMA. The study showed a direct correlation between the levels of ZPR1 and the severity of the disease.
It was also shown that ZPR1 stimulates neurite growth and rescues axonal growth defects in SMN-deficient spinal cord neurons from SMA mice. These data suggest that the severity of disease correlates negatively with ZPR1 levels and ZPR1 may be a protective modifier of SMA.
These findings could in the long run lead to a new SMA therapy and give us further into SMA.
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