The Malta Independent 2 March 2021, Tuesday

ALS in Maltese people affects different genes than those in European counterparts –UoM study

Thursday, 21 January 2021, 08:41 Last update: about 2 months ago

A study conducted by the University of Malta on patients who are diagnosed with amyotrophic lateral sclerosis (ALS) revealed that ALS in Maltese patients affects genes which are rarely damaged in other Europeans with ALS.

ALS is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord”, causing loss of muscle control. As the disease affects and degenerates the body, it leads to paralysis, taking away a person’s ability to walk, speak, eat and breath, and the person can generally only do so if aided after it takes its toll. As of yet, there is no cure for the disease.


This particular study on Maltese patients, reported by the University of Malta’s newspoint, informed that Malta’s ALS Biobank “is providing scientists with an invaluable resource for understanding the causes of ALS.”

“In the first landmark study, researchers have retrieved and scrutinised the DNA from blood samples to discover flaws in genes linked to ALS,” the report read.

The study is lead researcher is Dr Ruben J. Cauchi, who is a senior lecturer in the Faculty of Medicine & Surgery at the University of Malta.

Not only does ALS affect Maltese in different sets of genes than those normally affected in other Europeans, but European’s “most frequently mutated ALS genes were flawless in Maltese patients,” Dr Cauchi said.

Dr Cauchi also acknowledged that the study demonstrates that since Malta as a country is geographically isolated, it fosters unique genetic makeup.

“Our results underscore the unique genetics of the Maltese population, shaped by centuries of relative isolation. We also established that genetic factors play a significant role in causing ALS in Malta,” Dr Cauchi remarked to Newspoint.

The next step of the study is to figure out what the cause is for ALS to be triggered in a subject that had no flaws in previously known ALS genes.

The study’s co-authors are Rebecca Borg, Maia Farrugia Wismayer, Dr Karl Bonavia, Dr Andrew Farrugia Wismayer and Prof Neville Vassallo from the University of Malta; Dr Malcolm Vella from Mater Dei Hospital; and Dr Joke J.F.A. van Vugt, Dr Brendan J. Kenna, Dr Kevin P. Kenna, and Prof Jan H. Veldink from UMC Utrecht.

The study was funded by the University of Malta Research Excellence Fund, an Endeavour Scholarship (part-financed by the European Social Fund), an EMBO fellowship, a Malta Council for Science & Technology Internationalisation Partnership Award, ALS Malta Foundation and the University of Malta’s Research Trust (RIDT).

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