Maltese researchers have made a breakthrough discovery that could be crucial for the development of treatment for motor neurone diseases such as ALS, which so far have no cure.

The finding was made by testing fruit flies with motor neurone disorders, which are diseases that cause the degeneration or death of the nerves in the muscles that we use to eat, talk, move and breathe.

This gradually leads to muscle weakness, robbing patients of their independence, and eventually their life.

Amyotrophic lateral sclerosis (ALS) is the most common motor neurone disorder in adults, while spinal muscular atrophy (SMA) is the most common in children.

SMA is the number one genetic killer of children, and several studies have proved that ALS and SMA are linked.

Ruben Cauchi, a senior lecturer and lead researcher at the University of Malta, explained that so far, scientists know that in almost all cases of SMA and a high percentage of cases of ALS, there is a deficiency in the levels of a very important protein known as the survival motor neuron (SMN) protein.

Bjorn FormosaBjorn Formosa

However, the reason why low levels of SMN result in the collapse of the neuromuscular system was unknown until a breakthrough discovery after four years of research by a team of scientists from the University of Malta and the Institut de Génétique Moléculaire de Montpellier.

“Our team in Malta discovered the missing link, and we dedicate this breakthrough to our dear friend Bjorn Formosa – himself a motor neurone disease sufferer. This dedi­cation comes from the heart,” Dr Cauchi said of the discovery, which has just been published in the renowned Neurobiology of Disease journal after an additional nine months of scrutiny.

In recent years, Dr Cauchi has been leading research into motor neurone disorders 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 over the past 11 years.

Using flies as miniature humans, the team has shown that SMN is a very important component of a network that is crucial to the health of muscles and nerves.  Without SMN, this network does not function well.

They have now unveiled this protein network that, once faulty, triggers muscle weakness and paralysis in motor neurone diseases.

This insight is crucial for the development of treatment, because motor neurone disorder patients are usually prescribed drugs on a trial-and-error basis, which may not always work.

Researchers can now try to develop drugs that target specific components of the newly discovered network.

“Our mission in the next few years is to crack wide open or explore this network by identifying its components.

“This is a fundamentally important endeavour, because these components, or proteins, can serve as targets for specific drugs that will help us to tame this beast of a disease,” Dr Cachia added.

The research was funded by the University of Malta’s Faculty of Medi­cine and the Surgery Dean’s Initiative, the Malta Council for Science and Technology, the Embassy of France in Malta, and a Malta Strategic Educational Pathways Scholarship (part-financed by the European Social Fund). The study co-authors from the University of Malta were Dr Neville Vassallo, Rebecca Borg and Benji Fenech Salerno.

Dr Cauchi may be contacted through the website www.um.edu.mt/profile/rubencauchi.

The breakthrough, for motor neurone disease sufferer and campaigner Bjorn Formosa, is “incredible”.

“Thinking that last year I wasn’t even sure that I was affected by one of the worst and least understood conditions and that today we’re knocking at the door of a possible pathway for a possible cure, means that we’ve all contributed to one heck of a job,” he said.

The 29-year-old founded ALS Malta after speaking to The Sunday Times of Malta in August of last year, in what was to become the first media outreach.

The foundation raises awareness and funds to invest in equipment for people with ALS and in research.

In fact, the scientists have dedicated their four-year, painstaking research efforts “with admiration and affection” to the “indefatigable” young man.

Mr Formosa said he could not be more thankful to Dr Cauchi, his team of researchers and everyone on the island for helping in the climb towards a possible solution.

“Of course we’d be naive to start taking it easier at this time. We need to roll up our sleeves and push harder to build up on this discovery, so that one day we can all say problem solved.”

Readers can help by logging on to www.alsmalta.org/donate.

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