Centre researchers provide important insights into a childhood form of motor neuron disease
Following on from their recent publication in Human Molecular Genetics (see news story below), Lyndsay Murray, Tom Gillingwater and collaborators in Oxford have published another paper on a childhood form of motor neuron disease known as Spinal Muscular Atrophy (SMA) in PLoS Genetics. They have addressed an important unresolved issue by asking whether widespread defects in a cellular process known as mRNA splicing are directly responsible for motor neuron death. Their work has shown that widespread splicing disturbance is not a primary feature of the disease pathogenesis but a secondary effect of cell injury in a late phase of the disease. This information will be important for designing new therapeutic approaches for this devastating disease.
The full paper can be accessed for free at: http://www.plosgenetics.org/article/info%3Adoi%2F10.1371%2Fjournal.pgen.1000773
