Researchers from Sant Pau in Barcelona have discovered the gene that causes ALS
VALENCIA (EP). Study by the Neuromuscular Diseases Group and the Dementia Neurobiology Group of the Sant Pau Research Institute (IR Sant Pau) and the Memory Unit of the Sant Pau Hospital in Barcelona identified a gene linked to amyotrophic lateral sclerosis (ALS).
Published in the magazine Journal of Neurology, Neurosurgery and Psychiatryidentified a mutation in the ARPP21 gene, which codes for an RNA-binding protein, and was found in 10 ALS patients from seven families in La Rioja, the hospital said in a statement Thursday.
The investigation began after the discovery of “an unusually high number of ALS cases in La Rioja, particularly in the southeastern region of the autonomous community,” given the normal incidence rates, which are usually between two and three cases per 100,000 inhabitants per year.
“We realized that there were a lot of patients from this area, from very nearby cities, which attracted a lot of attention,” explains the researcher and one of the study’s lead authors. Ricardo Rojas-Garcia.
The scientists performed whole-genome sequencing on a group of 12 ALS patients (5 with a family history) from the region, and the study was expanded to include members of affected families and additional cases from the wider surrounding region.
The mutation identified in ARPP21 has not been found in other ALS-causing genes, and the discovery “strongly suggests that ARPP21 is a novel ALS-causing gene.”
POSSIBLE NEW THERAPIES Between 2009 and 2022, 15 patients from the study area who met the diagnostic criteria for ALS were visited in Sant Pau, and 7 of 15 (46.6%) had a family history of ALS and were considered as possible familial cases.
In addition, known disease-causing mutations were excluded using exome sequencing analysis or a specific gene panel.
Investigator and first signatory of the study, Oriol Dols-Icardoassured that this mutation “will not only help to more accurately diagnose ALS, but also open the door to research into new personalized treatments” and studying the function of this protein in the disease.