Thursday, 28 June 2012

St Andrews scientists make breakthrough in 'floppy baby' syndrome

A team led by Dr Judith Sleeman of the School of Biology has made advances in the understanding of the inherited motor neurone disease, Spinal Muscular Atrophy (SMA), also known as 'floppy baby' syndrome. The condition is the leading genetic cause of death in children and affects one in 6000 live births. Using cell culture models of SMA, the team have uncovered differences in the movement of key parts of a molecular 'machine', the spliceosome, which is vital to the way genes work by helping to decode the DNA molecules carrying genetic instructions and removing unneeded sections. In conditions such as SMA, this decoding process goes wrong.  [press release] [Clelland et al., 2012]

Splicing factors (red), vital parts of the molecular machine needed to decode the cell's genetic information, in the nuclei of human cells (Clelland et al., 2012).
Further information and support advice for families affected by SMA is available from the Jennifer Trust for Spinal Muscular Atrophy.