The ALS study notes the specific genetics of the Maltese population

There is no shortage of sunny beaches, honeymoon villages and rugged country in Malta, a dominant microstate in the middle of the Mediterranean Sea. Beyond the charm of the Mediterranean, Malta is home to an isolated and culturally diverse population with a unique genetic make-up, making the country of this island a gold miner for genetic research.

Four years ago, the University of Malta established the national ALS Register and Biobank to identify patients with amyotrophic lateral sclerosis (ALS) and collect data on place of residence, occupation, lifestyle and environmental exposures. Blood samples donated by partners will continue to be stored in the University’s high-tech storage facilities over a number of years.

ALS is a progressive brain disease that destroys the nerves that interact with the muscles of the body. The disease usually leads to complete paralysis of the body, attacking patients from their inability to walk, talk, eat and breathe. There is no cure for ALS, and finally, the disease is fatal.

Malta ‘s ALS Biobank provides a valuable resource for scientists to understand the causes of ALS. In the first landmark study, researchers have recovered the DNA and analyzed it from blood samples to detect defects in ALS-linked genes.

“We were surprised by the DNA results. The ALS genes were most often lost without patients in Maltese,” said the study’s lead researcher Dr Ruben J. Cauchi, PhD, a senior lecturer at the University’s School of Medicine and principal investigator at University. Center for Molecular Medicine and Biobanking.

Collaborating with scientists at Utrecht University Medical Center (UMC) in the Netherlands, University of Malta researchers found that ALS patients in Malta had no defects in the known C9orf72, SOD1, TARDBP and FUS genes that they contribute to a large number of ALS cases worldwide.

Nevertheless, the study showed that, compared to other European figures, a higher percentage of Maltese patients who did not have a prior family history of ALS have harmful defects in their DNA. Interestingly, these occur in genes that are rarely mutated in Europeans by ALS.

Our results confirm the unique genetics of the Maltese population, shaped by centuries of loneliness. We also established that genetic factors play an important role in the cause of ALS in Malta. “

Dr. Ruben J. Cauchi, PhD, Principal Investigating Research

Currently, the research team is finding what triggers ALS in more than half of the study subjects that did not have defects in known ALS genes. Thanks to the involvement of healthy patients and volunteers, Malta ‘s ALS Biobank is fast becoming a valuable source of data that is expected to provide more interesting insights into the causes of ALS in the years to come.