Researchers at Sant Pau Hospital identify a new gene that causes ALS, which is key to its diagnosis.

Medical advances continue in research Amyotrophic lateral sclerosisalso known as AIt was a group of researchers from the neuromuscular diseases and dementia neurobiology groups. Sant Pau Research Institutetogether with the memory department Hospital Sant Pau in Barcelonawho managed to identify a new gene associated with ALS.

This gene was nicknamed as ARPP21 and they were able to discover it thanks to its presence in a significant number of families who were not related to each other but lived in the same area of ​​La Rioja.

The investigation began after the discovery of an “unusually large amount” ALS cases in La Rioja, especially in south-eastern region autonomous community”. In particular, 10 patients with multiple sclerosis were identified. 7 families territories, while the usual incidence data is between two and three cases per each 100,000 inhabitants annually.

That’s when scientists conducted the study, according to a study published in the Journal of Neurology, Neurosurgery, and Psychiatry. genome sequencing completed in 12 ALS patients from the region, five of whom have already undergone family historyThe study was later expanded to include other members of the affected families, as well as other cases from the surrounding region.

Sequencing made it possible to identify new mutation named ARPP21, noting that it “strongly suggests that ARPP21 is a new The Gene That Causes ALS“. Doctor Oriol Dols-Icardoa participant in the study, wanted to clarify in an interview with Onda Cero that although this is not a definitive step for his treatment, “it allows expand knowledge about the disease.” Identifying this gene “is like laying another stone in a castle that is starting to be built well,” explains Dols-Icardo.

In addition, the study’s signatory adds that “this will not only help diagnose ALS more precisely, but also opens the door for investigation new treatment methods personalized”, and also to study the function of this protein in the disease.

What is ALS?

Between two and three people out of every 100,000 inhabitants suffer from this disease. ALS is a condition that affects central nervous systemIt is characterized by degeneration of motor neurons (those that control voluntary movements such as speaking, walking, breathing and swallowing) and can lead to paralysis and have a strong impact on people who suffer from it.

Their statistics are alarming. This is third disease the most common neurodegenerative disease in Spain. The disease is incurable and has a survival rate from 3 to 5 yearsIn addition, its detection occurs quite late, since its diagnosis usually takes up to 12 months.

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