Maltese researchers have helped solve the mystery around a faulty molecule that international scientists previously linked to ALS, holding out new hope for patients with the degenerative neurological disease.
Research about the disease has been going on for over a decade in Malta, with scientists in recent years discovering that the genes that cause ALS in Malta are different than those reported elsewhere in Europe.
In new research, they homed in on a gene (DCTN1), whose mutation dates to the first island settlers. DCTN1 is one of the genes that is relatively much more damaged in Maltese ALS patients compared to their European counterparts.
Genes are segments of DNA that contain instructions for building the molecules that make the body work.
Maltese researchers studied DCTN1 in fruit flies, whose DNA sequence overlaps with that of human beings by 75 per cent. Fruit flies are the first genetically modified multicellular organisms in Malta, and some are created in the labs at the University of Malta.
When DCTN1 was purposely “switched off” and therefore producing faulty molecules, the fruit flies developed ALS symptoms.
Separately, scientists in the US and UK held post-mortem examinations on brains of ALS patients and found several faulty molecules. However, they were not aware that the fault in some of them can occur when DCTN1 is damaged.
The answers lay in a lab at the University of Malta, with Prof. Ruben Cauchi, head of the Motor Neuron Disease Laboratory, telling Times of Malta that combining such findings across the globe is what ultimately raises hope for treatment.
“By combining our discoveries, we now know that targeting a particular molecular change can have a positive therapeutic impact on a broad number of patients,” he said.
Disease that destroys nerves interacting with muscles
ALS is a disease that destroys nerves that interact with the body’s muscles and typically leads to complete paralysis of the body.
In Malta, around one patient is diagnosed with ALS every month, and some 15 people are known to have the disease at any one point in time. Some patients die months after diagnosis while others survive for years.
This most recent discovery with implications for the development of treatment for this relentless disease is being published in the scientific journal Frontiers in Neuroscience.
Study co-authors are Dr Rebecca Borg, Dr Paul Herrera, Angie Purkiss and Rebecca Cacciottolo. Research at the Motor Neuron Disease Laboratory at the University of Malta is presently funded by the Malta Council for Science & Technology Research Excellence Programme, a tertiary education scholarship, and the Anthony Rizzo Memorial ALS Research Fund facilitated by the University of Malta’s Research Trust (RIDT).
Those who require more information about the research or are interested in sponsoring research can get in touch on mnd.research@um.edu.mt