A missing link between genes whose mutation causes ALS has been identified by a team of researchers at the University of Malta, in a discovery that could lead to treatment of the fatal neuromuscular disease.

Amyotrophic lateral sclerosis (ALS) robs people of their ability to walk, eat and breathe. The disease destroys motor neurons, the long nerve cells in the brain and spinal cord that tell the muscles what to do.

Signals from these nerves gradually stop reaching the muscles, which weaken and die. There is currently no cure for ALS and the disease is fatal.

Senior lecturer Ruben Cauchi has been leading research into what causes the disease by using fruit flies, whose DNA sequence overlaps with that of human beings by 75%.

These fruit flies are the first genetically modified organisms in Malta. Some of them were created in the labs at the university.

When they reduced this particular gene, ALS symptoms flared

For the past 10 years, Dr Cauchi and his colleagues have been looking into the genetics and mutations that contribute significantly to the development of ALS.

He told Times of Malta that, so far, there are at least 40 known genes related to the development and progression of the disease, making it harder for researchers to focus on a particular one.

So a team under the direction of Dr Cauchi, who is also a lead investigator at the university’s Centre for Molecular Medicine and Biobanking, looked into three of the major four genes involved.

Following several trial-and-error attempts, they identified a separate gene that links to all three. This gene can be tweaked: when they reduced this particular gene during initial studies, ALS symptoms flared.

Co-author Rebecca Cacciottolo will be taking the research further through a doctorate, by tweaking the gene in different ways to test whether it could slow the progress of the disease.

The results could potentially pave the way for the development of treatments that are effective for a broad swathe of ALS patients, according to Dr Cauchi.

The results of this three-year research have been published in Nature’s Scientific Reports journal.

Apart from Ms Cacciottolo, the research team included Joanna Ciantar, Maia Lanfranco, Rebecca Borg and Prof Neville Vassallo from the University of Malta, and Dr Rémy Bordonné from the Institut de Génétique Moléculaire de Montpellier (CNRS/Université de Montpellier).

Research in Dr Cauchi’s laboratory is funded by the Malta Council for Science & Technology, an Endeavour Scholarship (part-financed by the European Social Fund), ALS Malta Foundation and the University of Malta’s Research Trust.