A team of Maltese researchers and patients have been involved in two ground-breaking international discoveries on the cause of ALS, paving the way for treatment that could delay or halt the debilitating disease.

In one study, over 50 genes that could increase the risk of developing ALS were singled out. Around a dozen of these are genes that people are born with, while over 40 get “corrupted” throughout one’s life because of environmental or lifestyle factors.

In the second study, researchers found a link between cholesterol and ALS.

University of Malta professor Ruben Cauchi, who is leading the local team within Project MinE, told Times of Malta that while ALS patients were found to have high levels of cholesterol it is not yet known whether high cholesterol causes ALS, or whether the condition causes high cholesterol levels.

“ALS patients profiled in both studies had differences in cholesterol levels compared to others who don’t have ALS. Cholesterol is known to be regulated by what is known as autophagy, a process that cells use to remove damaged material. Cells collect their trash in ‘garbage bags’ known as vesicles. These vesicles need to be transported to collection points within the cell to be either destroyed or recycled,” Cauchi explained.

In ALS patients, the genes that regulate autophagy and the transportation of these vesicles are more likely to be corrupted. Right now, researchers are looking into the link between the cell’s garbage collection mechanism, cholesterol and ALS.

This link is being investigated simultaneously by researchers worldwide, including in Malta, where scientists study the development of the disease in fruit flies, whose DNA sequence overlaps with that of human beings by 75 per cent.

Malta has one of the highest incidence rates of ALS in Europe.

Malta has one of the highest incidence rates of the disease in Europe

Amyotrophic lateral sclerosis (ALS) is a progressive neurological disease that destroys nerves that interact with the body’s muscles. The disease typically leads to complete paralysis of the body, robbing patients of their ability to walk, speak, eat and breathe.

There is no cure for ALS, but efforts at finding treatment that could slow the progression have intensified internationally over the past few years. For over a decade, Cauchi and his team have been looking into the genetics and mutations that contribute significantly to the development of ALS.

Maltese ALS patients have also provided samples of their genetics, joining tens of thousands of others from across the world in international research that kicked off nine years ago. Both studies have been published in the international journals Nature Genetics and Science Translational Medicine.

Research on ALS at the University of Malta is presently funded by the University of Malta Research Excellence Fund, the Malta Council for Science and Technology and the University of Malta’s Research Trust. People who would like to take part in the studies, or need more information about the research can get in touch by e-mailing mnd.research@um.edu.mt.