Over 15 years ago, researchers linked a defect in a gene called
survival motor neuron -- or SMN -- with the fatal disease spinal
muscular atrophy. Because SMN had a role in assembling the
intracellular machinery that processes genetic material, it was
assumed that faulty processing was to blame. Now, University of
North Carolina scientists have discovered that this commonly
held assumption is wrong and that a separate role of the SMN
gene – still not completely elucidated -- is likely responsible
for the disease's manifestations. The research appears Thursday
June 21, 2012 in the journal Cell Reports. "There are a number
of gene therapies and RNA therapies in the pipeline that may
still work regardless of the underlying cause of the disease,"
said senior study author Gregory Matera, PhD, professor in the
departments of biology and genetics and a member of the Program
in Molecular Biology and Biotechnology in the UNC School of
Medicine. "But if those approaches don't pan out, it could be
that the therapy isn't