Expression study of survival motor neuron gene in human fetal tissues

In order to investigate the spinal muscular atrophy (SMA) disease processes, the expression of the survival motor neuron gene (SMN) has been analyzed in human fetal tissues using RT-PCR and in situ hybridization. These studies allowed the detection of SMN RNA in all the examined tissues, with no significant variation between different developmental stages. In particular, SMN mRNA was detected in spinal cord (dorsal and ventral portions), skeletal muscle, lung, heart, kidney, liver, and spleen. Moreover, RT-PCR studies demonstrated that the expression pattern of SMN isoforms was similar to that observed in adult tissues. The present data confirm a housekeeping role for the SMN protein and may have implications on the search for early therapeutic strategies.