Maltese researchers have identified which gene in ALS patients could be targeted by treatment to stop or slow the disease, in a breakthrough study of international significance.   

The discovery was made at the University of Malta with the help of 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 of those used in this study were created in the labs at the university.

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

Prof. Ruben Cauchi, who led the research, explained that Maltese researchers had zoned in on a gene that is found ‘disrupted’ in a significant number of patients with ALS.

When this gene was ‘switched off’ in the fruit flies, the bugs themselves started developing ALS symptoms, confirming, for the first time in an ‘animal model’, that damage to this gene increased the risk of ALS.

The discovery comes at a time when – after a hiatus of 27 years – ALS treatment (known as AMX0035) is set to be approved for use in Europe. This means that the discovery by Maltese researchers could help those administering this treatment to specifically target the source of the disease, Cauchi said.

Research on the significance of the gene was made in Malta from start to finish but can be applied to ALS patients worldwide

“This is a breakthrough discovery, and we are really happy that research on the significance of the gene, known as SCFD1, was made in Malta from start to finish but can be applied to ALS patients worldwide,” said Cauchi, head of the Motor Neuron Disease Laboratory at the University of Malta.

The study is being published in the Neurobiology of Aging journal.

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.

In a recent landmark study researchers found that the Maltese are at a greater risk of developing ALS and the cause may be the islanders’ genetic insularity.

The authors are Prof. Ruben Cauchi, Dr Rebecca Borg, Angie Purkiss, Rebecca Cacciottolo and Dr Paul Herrera.

ALS research has been going on for years

Research on ALS in Malta, led by Cauchi, has been ongoing for years.

The SCFD1 gene had been internationally flagged as one of the strongest risk factors for ALS patients, however, the significance of the connection between the gene and the disease remained unknown until the Maltese team of researchers stepped in.

The local researchers zoned in on SCFD1 and discovered that when they ‘switched off’ the gene in fruit flies, the cell’s ability to fold proteins was compromised. Proteins need to be correctly folded into complex 3D structures to perform their vital functions.

The ALS treatment AMX0035 works by repairing proteins that are incorrectly folded. Following the discovery by Maltese researchers, future researchers can focus on developing treatment that would specifically target SCFD1. 

The study co-authors are Dr Rebecca Borg, Angie Purkiss, Rebecca Cacciottolo and Dr Paul Herrera.

Research at the Motor Neuron Disease Laboratory at the University of Malta is currently being funded by the Malta Council for Science and 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.

Those who require more information about the research or are interested in sponsoring research can get in touch on mnd.research@um.edu.mt