Health
ALS studies highlight the unique genetics of the Maltese population
Malta, a sovereign microstate in the middle of the Mediterranean Sea, is full of sunny beaches, honey villages and rugged countryside. Beyond the charm of the Mediterranean, Malta is home to a geographically and culturally isolated population, and its unique genetic composition makes the island nation a gold mine for genetic research.
Four years ago, the University of Malta established a national ALS registry and biobank to identify patients with amyotrophic lateral sclerosis (ALS) and collect data on their place of residence, occupation, lifestyle, and environmental exposure. Was established. Blood samples provided by participants will be stored for many years in the university’s high-tech storage facility.
ALS is a progressive neurological disorder that destroys the nerves that interact with the muscles of the body. The disease usually causes complete paralysis of the body, depriving the patient of their ability to walk, talk, eat and breathe. There is no cure for ALS and it is ultimately fatal.
Malta’s ALS Biobank provides scientists with valuable resources to understand the causes of ALS. In the first groundbreaking study, researchers took DNA from blood samples and scrutinized it to discover defects in genes associated with ALS.
“The DNA results surprised us. The most frequently mutated ALS gene was perfect in patients in Malta,” said Dr. Ruben J. Kauch, senior researcher at the University School of Medicine. (Senior Researcher) said. Molecular Medicine and Biobanking Center.
Researchers at the University of Malta, in collaboration with scientists at the Utrecht University Medical Center (UMC) in the Netherlands, are known to contribute to a major number of ALS patients in Malta, C9orf72, SOD1, TARDBP, and We found that the FUS gene was not defective. Of ALS cases worldwide.
Nonetheless, the study found that a higher proportion of Maltese patients with no family history of ALS had deleterious defects in their DNA compared to other European populations. .. Interestingly, these occur in genes that are rarely damaged in Europeans with ALS.
Our results underscore the unique genetics of Malta’s population, shaped by centuries of relative isolation. We have also established that genetic factors play an important role in causing ALS in Malta. “
Dr. Ruben J. Couch, Principal Investigator of Research
Currently, the research team is looking for a cause of ALS in more than half of the studies that did not have a defect in the known ALS gene. Thanks to the participation of patients and healthy volunteers, Malta’s ALS biobank is rapidly growing into a valuable treasure trove of data and is expected to reveal more compelling insights into the causes of ALS in the coming years. It has been.
Source:
Journal reference:
Borg, R. , et al. (2021) Genetic analysis of ALS cases in the isolated island population of Malta. European journal of human genetics. doi.org/10.1038/s41431-020-00767-9..
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