They identify a key cell in the development of amyotrophic lateral sclerosis

The study describes, for the first time, a type of cell directly responsible for the inflammatory response in ALS that appears in the brain of patients suffering from the disease and relates this cell to the loss of neuronal connections in the motor cortex.

Researchers at the Sant Pau Hospital in Barcelona have identified a key cell in the development of amyotrophic lateral sclerosis (ALS), which may open new opportunities to develop new therapeutic strategies to combat this disease. The researchers, who have published their finding in the journal of the American Academy of Neurology "Neurology, Neuroimmunology & Neuroinflammatio", have described, through innovative bioinformatics techniques applied to genomic data, the molecular and cellular alterations found in the brain of patients with ALS.

The study describes, for the first time, a type of cell directly responsible for the inflammatory response in ALS that appears in the brain of patients suffering from the disease and relates this cell to the loss of neuronal connections in the motor cortex, a brain region very vulnerable to the disease. The work has been carried out by the research group on genetics of neurodegenerative diseases of the Sant Pau-IIB Sant Pau Research Institute, in collaboration with the Neurological Tissue Bank of the Hospital Clínic of Barcelona and has been largely financed by the Foundation Spanish Association for the Promotion of Lateral Amyotrophic Sclerosis Research.

Researchers have used a combination of recently developed bioinformatic techniques to investigate alterations in the transcriptome (a group of molecules known as RNA) in the motor cortex of ALS patients. The motor cortex is the brain region that is altered the earliest, which makes it a particularly vulnerable and key region in the development of the pathology.

Based on the massive characterization of the transcriptome of this region, using high-throughput sequencing techniques, researchers have discovered 124 RNA molecules that are key to this disease, most of them involved in functions that intervene in neuroinflammation. According to the researchers, these molecules can be used as therapeutic targets and can also help develop new diagnostic markers.

In this sense, they also affirm that its use could be evaluated to accelerate the patient diagnosis process, which is currently difficult and in many cases takes time, which negatively influences both the patient and the family environment.