2023-06-21 05:32:00
Of unknown origin in nine out of ten cases and so far incurable, this neurodegenerative pathology gradually deprives the individual who has it of his muscular strength and his autonomy. Progress has been made recently, however, which is good news on this World ALS Day.
British astrophysicist Stephen Hawking is perhaps the best-known face of this disease, which usually begins between the ages of 50 and 60. The man had defied predictions that he had only a few years to live after developing amyotrophic lateral sclerosis at a very young age, when he was still in his early twenties. The disease had gradually confined him to a wheelchair and forced him to express himself through his iconic voice synthesizer.
ALS causes the death of motor neurons (nerve cells that direct and control movement) and their connection to muscles. People who suffer from it gradually lose their mobility, until they can no longer speak, swallow or breathe. Death usually occurs between two and five years after diagnosis.
In the vast majority of cases (90%), the cause of the disease is unknown. For one out of ten patients, it is of genetic origin.
In about 2% of patients, ALS is caused by a mutation in the SOD1 gene. This leads to a toxic accumulation of the proteins of the same name, which causes the death of motor nerve cells. For these people, a ray of hope has been kindled by the conclusive results of an international study, in which UZ Leuven took part. Published last September, clinical trials involving a drug, tofersen, have shown that the treatment effectively counters the disease in these patients, proving that ALS is in principle a treatable disease.
In addition, scientists from the Flemish Institute for Biotechnology (VIB) and KU Leuven announced in mid-September that they had identified three proteins playing an important role in Charcot’s disease.
Professor Ludo Van Den Bosch, whose research work focuses on ALS, for his part received the Prix Generet last February to recognize his contributions to research on this rare disease. His team thus discovered that by inhibiting a certain enzyme, it was possible to restore transport along the ramifications connecting the cells of the spinal cord to the muscles. The researcher ultimately hopes to “make a major contribution to the cure” of this pathology which affects 400,000 people around the world.
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