University of Malta researchers have revealed how disruption of the DCTN1 gene causes amyotrophic lateral sclerosis (ALS). The new study published in the scientific journal Frontiers in Neuroscience has implications on the development of treatments for this relentless disease.
ALS is a neurological disease attacking the nerve cells or neurons that control the muscles of the body. Due to the disease, muscles stop functioning leading to difficulties with walking, talking, eating, and, eventually breathing. Only one drug is available for ALS patients and it is widely known to be ineffective at halting disease progression. Previous research has determined that the genes that cause ALS in Malta are different than those reported in other European populations. DCTN1 is one of the genes that is relatively much more damaged in Maltese ALS patients compared to their European counterparts. In the pioneering study, researchers inactivated the DCTN1 gene in fruit flies to discover that this triggered symptoms that overlap those observed in ALS patients having faults in the same gene. Flies developed reduced mobility and a deterioration of the contact points between neurons and muscles. Flies have long been used by scientists because ofthe remarkable genetic and biological similarities to humans. The scientists then studied how neurons without DCTN1 differed from healthy neurons. They found that several genes with a critical function in neurons were incorrectly edited.
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On her official visit to the University of Malta on Tuesday 16 May 2023, the ALS/MND Lab was honoured to welcome the President of the European Parliament Dr. Roberta Metsola where she had opportunity to see first hand game-changing ALS research by the team headed by Prof. Ruben Cauchi. Her discussions with researchers concentrated on the impact of the Lab’s discoveries on Malta’s ALS patient population. President Metsola thanked the Lab researchers for their crucial work. "Europe needs more of your research, of your ideas, of your ambition to find the solutions and the treatments needed today. This is why the European Union will continue to invest in research and innovation," Dr. Metsola stated. Aiming at highlighting similarities, differences, challenges and opportunities for the Mediterranean island populations of Malta and Sicily in ALS genetic risk factor discovery, the University of Malta Motor Neuron Disease Laboratory successfully organised the third edition of the UM ALS/MND Summit on Saturday 25 March, on campus.
Loosely focusing on risk factors that trigger ALS in island populations, the event hosted an exciting series of talks by national and international ALS experts as well as early career researchers. The Summit was chaired by Prof. Ruben Cauchi from the Department of Physiology and Biochemistry at the University of Malta’s Faculty of Medicine and Surgery. The Keynote speaker was Prof. Vincenzo La Bella, head of the ALS Clinical Research Centre at the University of Palermo in Sicily, Italy. This edition’s clinical lecture was delivered by Neurologist Dr Rossella Spataro from the University of Palermo. Talks focused on the latest research on brain-computer interfaces for locked-in conditions including ALS, genetic risk factors for ALS that are unique for the Maltese population, how flies are used in the lab to model ALS patients, how omics technologies are being exploited to decipher mechanisms and eventual drug targets for ALS, the development of animal models that mimic ALS patients, the first described juvenile ALS case in Malta and the epidemiological, clinical and genetic landscape of ALS in Sicily based on a two-decade analysis. The Summit was well attended by medical students, clinicians, researchers, ALS patients and their relatives. The UM ALS/MND Summit provides a platform for the delivery of enlightening talks on various aspects of Motor Neuron Disease by national and international experts with a vast research experience in neurology or neuroscience. Keynote speakers of past editions included Prof. Kevin Kenna from UMC Utrecht and Prof. Bradley Turner from the Florey Institute of Neuroscience and Mental Health at the University of Melbourne. The third edition of the UM ALS/MND Summit was supported by the University of Malta and the Malta Council for Science & Technology Internationalisation Partnership Award. Published in The Sunday Times of Malta: view PDF / view digital edition
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