Fruit flies may help scientists reverse mobility defects in children caused by a neuromuscular disease, thanks to a study being led by the University of Malta.
The disease, called spinal muscular atrophy, causes infants to lose their ability to walk or breathe and is the number one genetic killer of children.
Ruben Cauchi, a senior lecturer at the university, has been leading research into what causes the disease by using fruit flies, whose DNA sequence overlaps with that of human beings by 75 per cent.
The fruit flies being used are the first genetically modified organisms in Malta, and some of them were created in the labs at the university.
The research team, in collaboration with the Institut de Génétique Moléculaire in Montpellier, has generated flies that manifest the key features of the disease, including weakening muscles to the extent they are unable to fly. Spinal muscular atrophy is mostly caused by an inherited flaw in what is known as the survival motor neuron gene.
The researchers’ next step is to try to reverse this flaw by finding the proteins that associate with the gene product – its friends and foes.
“By studying the proteins that associate with the survival motor neuron, we are basically applying the Maltese proverb Ma’ min rajtek xebbahtek – by understanding the neighbours or friends of survival motor neuron protein, we gain insights into its function, and why it leads to the disease.
“We can target these friends and foes with drugs to learn how to reverse the disorder so the fruit flies can fly again. Or, we could do what is known as genetic screening – manipulate the levels of different proteins, one by one – until the fruit flies can fly again.”
This will entail the testing of some 15,000 genes, which would take about six years to complete if there were enough funds and manpower.
But once the procedure works on fruit flies, similar tests would be performed on other animals, and if successful, the defects could eventually be reversed in children.
For this research to continue, more funds and human resources, such as research assistants, are needed.
The latest findings by the university and Montpellier institute were published in the journal PLOS ONE.
The funders of the research included the university’s Faculty of Medicine and Surgery Dean’s Initiative, the Malta Council for Science and Technology, the Embassy of France to Malta and a Malta Strategic Educational Pathways Scholarship.
Dr Cauchi can be contacted by those interested on: http://staff.um.edu.mt/ruben.cauchi .