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Important gene find in local ALS study

Missing pieces in a puzzle discovered

Senior lecturer and head researcher Ruben Cauchi. Photo: Jonathan Borg

Senior lecturer and head researcher Ruben Cauchi. Photo: Jonathan Borg

Maltese researchers have discovered two genes in a vital breakthrough that holds out new hope for the treatment of ALS, a degenerative neurological disease.

The two genes are aptly named Valette and Gaulos. The privilege of naming them – a first for Malta – could be compared to the naming of a new star or planet, senior lecturer and lead researcher Ruben Cauchi.

The landmark discovery was made during a vast, ongoing study by the University of Malta’s ALS research team.

ALS destroys the nerves in the brain and spinal cord that tell the muscles what to do, robbing patients of their ability to walk, eat or breathe. It is eventually fatal – signals from the nerves gradually stop reaching the muscles, which weaken and die.

Valette and Gaulos are part of the gene set required for the functioning of nerves and they are key to muscle strength. Their discovery bodes well for international research that is aimed at mapping the comprehensive gene network that is to blame for ALS.

In comments to The Sunday Times, Dr Cauchi compared the discovery of the two genes to that of two missing pieces in the puzzle of the development of the motor neurone disease, which to date has no cure.

The discovery is expected to reveal potential drug targets that may halt or slow the progressive collapse of muscle strength – an unimaginable breakthrough that before now seemed like a dream for researchers.

The researchers are examining 15,000 genes,
one at a time

The ALS Lab at the University of Malta has joined international researchers in the race against time to find a cure, working in collaboration with Bjorn Formosa, who set up the ALS Malta Foundation after he was diagnosed with the condition.

Thanks to the local research, which is being supported by the foundation and the university’s Research Trust, there is hope that the ALS death sentence can finally be overturned.

Malta’s ALS research strategy is attracting considerable international attention. Earlier this month, Dr Cauchi was a keynote speaker at the ALS World Conference in Boston. Under his direction, the research team is scouting the DNA of Maltese ALS patients to identify faults that cause the disease.

The Malta ALS Research Team, including Dr Cauchi, second from left, first author for the study Maia Lanfranco on the right, with Bjorn Formosa, seated, who set up the ALS Malta Foundation after he was diagnosed with the condition. Photo: University of MaltaThe Malta ALS Research Team, including Dr Cauchi, second from left, first author for the study Maia Lanfranco on the right, with Bjorn Formosa, seated, who set up the ALS Malta Foundation after he was diagnosed with the condition. Photo: University of Malta

The team has embarked on research to identify the gene set that influences the health of nerves and muscles, in collaboration with the National Centre for Scientific Research in France.

With the help of fruit flies, the local researchers are examining some 15,000 genes, one at a time, to identify those that worsen or ameliorate ALS symptoms.

The flies, whose DNA sequence overlaps with that of humans by 75 per cent, are the first genetically modified organisms to dev-elop ALS symptoms in Malta.

When the researchers removed the Valette and Gaulos genes from fruit flies, their ALS symptoms worsened, meaning an increase of these two genes would halt or slow down the muscle weakness experienced by ALS patients. This discovery makes these genes targetable by drugs.

Dr Cauchi noted that the names of the genes are linked to their function. Valette was chosen for the most famous Grand Master’s ‘warrior’ characteristic, considering the gene is related to muscle strength. Gaulos – the most recognised ancient name for Gozo – actually derives from a word that means ‘vessel’. In the embryonic stage, the localisation pattern of this gene looks like a ship.

The findings are the result of hard work by talented students in the Malta ALS Research Group, especially Endeavour Scholar Maia Lanfranco, Dr Cauchi added.

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