Researchers at Sant Pau Research Institute, led by Dr. Ricard Rojas-García, have discovered a new mutation in the ARPP21 gene that may cause ALS, particularly noted in a high-incidence area in La Rioja, Spain. This finding, through whole-genome sequencing of familial and non-familial cases, suggests ARPP21 as a new ALS-linked gene.

The implications of this discovery are significant, offering prospects for better diagnosis, genetic counseling, and the potential for new research directions in ALS treatment globally. Researchers led by neurologist Dr. Ricard Rojas-García from the Neuromuscular Diseases Group and the Dementia Neurobiology Group of the Sant Pau Research Institute (IR Sant Pau), alongside the Memory Unit of the Sant Pau Hospital, have identified a new mutation in the ARPP21 gene that could be the cause of Amyotrophic Lateral Sclerosis (ALS), a devastating neurodegenerative disease.

Specifically, it is a shared mutation (c.1586C>T; p.Pro529Leu) in the ARPP21 gene that codes for an RNA -binding protein and has been found in a total of 10 ALS patients from 7 unrelated families in a region in the southeast of the autonomous community of La Rioja.

The investigation was initiated after detecting an unusually high number of ALS cases in La Rioja, specifically in the southeast region of the autonomous community. The number of cases identified in the area, particularly familial, and the calculated minimum incidence considerably exceeded the number of cases expected duri.