Scientists at the University of Malta and the Institut de Génétique Moléculaire de Montpellier (CNRS/Université de Montpellier) have shown that fruit flies and brewer's yeast, which are genetically and biologically similar to humans, can reveal clues about the cause of Spinal Muscular Atrophy, the most common genetic killer of infants.

SMA is a devastating neuromuscular disorder that robs children of their ability to walk, eat or breathe. Mostly caused by an inherited flaw in the Survival Motor Neuron (SMN) gene, SMA is presently without a cure. A key reason is the lack of detailed information on the workings of the SMN protein, in living organisms.

Using extensive genetic manipulations, the research team found that SMN forms an alliance with a set of diverse proteins known as Gemins. So incredibly fragile is this alliance that it can be broken if the perfect balance in protein levels is upset. The consequences are catastrophic and range from lethality to flies with muscles that are too weak to support flight.  The breakthrough discovery, which was published in the journal Plos One, strengthens the fight against SMA.

"Our study is the first to show that the special relationship between SMN and Gemins exists in a living model system," said the study's lead author Dr Ruben Cauchi, a senior lecturer at the University of Malta Faculty of Medicine & Surgery. "Furthermore, what we see in Game of Thrones is intriguingly true in cells. Upsetting the delicate balance of power leads to grave repercussions," he added with a smile.

SMN, in partnership with Gemins, is thought to have a role in assembling the constituents of the gigantic machine that edits messenger RNA, the genetic mail carrier of instructions for building proteins. Whether a fault in this process is to blame for the neuromuscular problems experienced by patients is still an open question.

Dr Cauchi's team recently showed that a selective deficiency of Gemins within the motor system results in manifestations that are reminiscent of those uncovered when SMN levels are reduced. These findings, coupled with those in the present study, indicate that a collapse of the SMN-Gemins alliance is responsible for SMA.

Right now the researchers are hunting for friends and foes of the alliance mostly because these open lines of therapeutic attack. "Current therapies in development for SMA are based on boosting SMN levels. Broadening the therapeutic targets is essential for an effective treatment. Model organisms hold the key for the successful implementation of this strategy," remarked Dr Rémy Bordonne, CNRS principal Investigator and study co-author.

The study entitled, Genetic interactions between the members of the SMN-Gemins Complex in Drosophila by Rebecca M. Borg, Rémy Bordonne, Neville Vassallo & Ruben J. Cauchi was funded by the University of Malta Faculty of Medicine & Surgery Dean's Initiative, the Malta Council for Science & Technology through the National Research & Innovation Programme 2012 (R&I-2012-066), the Embassy of France to Malta and a Malta Strategic Educational Pathways Scholarship (part-financed by the EU's European Social Fund). The paper can be obtained online at: