In order to investigate the spinal muscular atrophy (SMA) disease proc
esses, the expression of the survival motor neuron gene (SMN) has been
analyzed in human fetal tissues using RT-PCR and in situ hybridizatio
n. 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 a
nd ventral portions), skeletal muscle, lung, heart, kidney, liver, and
spleen, Moreover, RT-PCR studies demonstrated that the expression pat
tern of SMN isoforms was similar to that observed in adult tissues. Th
e present data confirm a housekeeping role for the SMN protein and may
have implications on the search far early therapeutic strategies. (C)
1997 Academic Press.