University of Malta researchers have contributed to a “landmark” international study that uncovered new genetic causes of ALS, “significantly advancing” the understanding of the neurodegenerative disease.
The findings reveal that a genetic cause can now be identified in approximately one in four people living with ALS – an increase from previous estimates of one in five.
Researchers also identified several previously unknown genetic alterations associated with ALS.
Amyotrophic lateral sclerosis is a progressive neurodegenerative condition that affects motor neurons in the brain and spinal cord, the nerve cells controlling movement, leading to muscle weakness, paralysis and, ultimately, death, typically within a few years of diagnosis.
The discovery of new rare variant contributions to ALS expands the number of genes linked to the disease and provides new insights into its underlying biological mechanisms, the university said.
Malta has one of the highest incidence rates of ALS in Europe, with around 17 patients living with the severe and incurable disease and roughly one per month getting diagnosed with the disorder that impairs the ability to walk, speak, swallow and eventually breathe.
While more than one in 10 people with ALS have a family history of the disease in Malta, the majority of cases occur sporadically, with both genetic and environmental factors contributing to disease development.
The study highlights that ALS is often not caused by just one faulty gene. Instead, it can result from a combination of several small genetic changes that together increase a person’s risk of developing the disease.
“It marks an important step forward in uncovering the genetic complexity of ALS,” explained Ruben J. Cauchi, professor of neurogenetics and head of the Motor Neuron Disease Laboratory at the University of Malta.
“Such insights are essential if we are to develop targeted therapies that can make a real difference to patients.”
Participation by the University of Malta researchers contributes to ongoing efforts to understand how genetic variation influences ALS across different populations, he said.
Previous research involving Maltese ALS patients has already indicated distinct genetic patterns, underlining the importance of including diverse populations in global studies.
Hope of new therapies within two years, with patients benefitting from life-changing treatment, was announced last summer as lead investigators of a research collaboration between Malta and China anticipated “meaningful results” within 24 months.
That research aimed to improve the quality of life of the ever-growing number of ALS cases, estimated to increase by a projected 30 per cent in Malta by 2045.
This study, which analysed genetic data from thousands of individuals with ALS, including samples from Malta’s national ALS DNA bank, has been published in the scientific journal Nature Genetics.
It was conducted as part of the global Project MinE initiative and led by University Medical Centre Utrecht in collaboration with several international partners.
“Our continued participation in international efforts such as Project MinE ensures that Malta contributes meaningfully to this global endeavour,” Cauchi noted.
“Crucially, our involvement ensures that these discoveries are also relevant to Maltese ALS patients.”
The University of Malta’s participation in Project MinE is supported by the Xjenza Malta Research Excellence Programme, Rotary Club La Valette and the Anthony Rizzo Memorial ALS Research Fund, with the latter two facilitated by the University of Malta’s Research Trust (RIDT).