SMA Gene Associated with Sporadic ALS
MDA/ALS NewsMagazine | February 10, 2012 | By Amy Labbe
Duplications (extra copies) of the SMN1 gene are a “major” risk factor for developing sporadic (noninherited) ALS (amyotrophic lateral sclerosis), a team of scientists based in the Netherlands and United Kingdom has reported.
The SMN1 gene also is implicated in the motor neuron disease spinal muscular atrophy (SMA). Deletions or mutations in the SMN1 gene (SMN stands for “survival of motor neurons”) lead to a deficiency of SMN protein and are the underlying cause of SMA.
ALS and SMA both are diseases in which muscle-controlling nerve cells called motor neurons degenerate and die, leading to profound muscle weakness and, eventually, paralysis.
The research team, including corresponding author L.H. van den Berg at the University Medical Center Utrecht in Utrecht, the Netherlands, described its findings online Feb. 8, 2012, in Neurology. (See SMN1 gene duplications are associated with sporadic ALS.)
Further research is needed to determine how SMN1 gene duplications raise the risk of developing ALS, and any potential for SMN1-based ALS biological markers (biomarkers) or therapies.
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