Spinal muscular atrophy: Insights from the fruit

Spinal muscular atrophy (SMA) is the most common genetic cause of childhood mortality. SMA is caused by deletion or mutations in the survival of motor neuron 1 (SMN1) gene, resulting in inadequate levels of the SMN protein. Conserved from yeast to human, the SMN protein is best known for its critical role in small nuclear ribonucleoprotein biogenesis and RNA splicing. However, one of the puzzles in the SMA field is how the reduction of SMN, a housekeeping gene, causes SMA, a motor neuron specific disease. The fruit fly Drosophila melanogaster has proven to be a powerful model for human biology and disease. Here we discuss recent progress in SMA disease modelling in the fruit fly, which has provided unprecedented insights into the pathological mechanism of SMA. © 2013 by Nova Science Publishers, Inc. All rights reserved.