A deleterious DNA change that is common in Scandinavia was discovered in an elderly Maltese patient with amyotrophic lateral sclerosis (ALS), according to a new study by the University of Malta, published in the European Journal of Human Genetics. ALS is a progressive neurological disease that attacks the nerves that interact with the body’s muscles. The disease typically leads to complete paralysis of the body, robbing patients of their ability to walk, speak, eat and breathe. In Malta, about one individual every month develops ALS. Some ALS patients die months after the onset of symptoms while others survive for years.
The research team identified a Maltese patient with ALS who had a flaw in the superoxide dismutase 1 or SOD1 gene, the first gene identified to cause ALS nearly 3 decades ago. The change substitutes an amino acid in the antioxidant enzyme produced by the gene, affecting its function in the nerves. The finding is the latest of an ongoing study aimed at identifying genetic and environmental factors associated with ALS through data and blood samples collected from ALS patients in Malta. Recently, the team discovered that Maltese ALS patients have a unique genetic makeup compared to their European counterparts. Furthermore, manual labourers in Malta were found to be twice as likely to be diagnosed with ALS.
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Research by the ALS/MND Lab featured on Lovin Malta web portal.
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