The population of Malta has genes that significantly raise the risk of developing amyotrophic lateral sclerosis (ALS), according to the conclusions of a new study conducted by the University of Malta. The study will be published in the Neurobiology of Aging journal.
ALS is a progressive neurological disease affecting the nerves that control the body’s muscles. Due to the disease, muscles stop functioning leading to difficulties with walking, talking, eating, and, eventually breathing. Incidence of ALS in Malta is greater than the European average and Malta registers a high percentage of patients in which the disease runs in families.
University of Malta researchers collaborating with consulting Neurologists at Mater Dei, Karin Grech and Gozo General Hospitals have investigated the largest cohort of Maltese ALS patients to date in a project that has been five years in the making.
Maltese men were found to be more likely than women to develop ALS. Symptoms most commonly developed between 45 and 75 years. However, in rare instances, the disease was found to strike at an earlier age, with an extremely rare case encountered during childhood.
Mostly, cases clustered around areas of high population density including the centre and southeast of Malta. Exceptionally, a higher than expected number of cases were identified in Gozo.
“This is a study that involved an impressive number of ALS patients when one considers our small population size. The results are exciting in that they not only flag important epidemiological aspects, but also expose the unique genetic landscape of ALS in Malta,” said Professor Ruben J. Cauchi who leads the Motor Neuron Disease Laboratory at the University of Malta.
Scrutinizing the genes of Maltese ALS patients and comparing their intricate code to that of healthy volunteers, scientists found faults that explain the cause of the disease in nearly half of the Maltese cases studied.
“The percentage of genetically explained ALS cases in Malta is one of the highest in the world, and only comparable to that of Sardinia. A possible culprit is our genetic insularity shaped by millennia of relative isolation from mainland Europe" explained Prof. Cauchi.
Five genes top the list as the most frequently damaged in Maltese ALS patients. Contrastingly, these genes are a rare cause of ALS in Europeans. Knowledge gained from the study is expected to quicken diagnosis and identify patients eligible for experimental treatments.
Right now, the research team is studying the top-ranking genes triggering ALS in Malta through the use of animal models of disease. Biological samples donated by ALS patients and healthy volunteers for this study will remain deposited at the University of Malta ALS Biobank. Advancing technologies will allow their use in further research leading to breakthrough discoveries.
Study co-authors are Maia Farrugia Wismayer, Dr Rebecca Borg, Dr Karl Bonavia, Dr Andrew Farrugia Wismayer, and Prof. Neville Vassallo from the University of Malta; Dr Malcolm Vella, Dr. Charmaine Chircop, Dr. Josanne Aquilina, and Dr. Doriette Soler from Mater Dei Hospital; and Dr. Adrian Pace from Karin Grech and Gozo General Hospitals.
Research at the Motor Neuron Disease Laboratory of the University of Malta is presently funded by the Malta Council for Science & Technology Research Excellence Programme and the Internationalisation Partnership Award, the Anthony Rizzo Memorial ALS Research Fund facilitated by the University of Malta’s Research Trust (RIDT) and an Endeavour Scholarship (part-financed by the European Social Fund).