Scientists from Tohoku and Keio Universities (Japan) have found that targeting the UNC13A gene can stop the development of amyotrophic lateral sclerosis (ALS). The results of the study are published in the journal Nature.

ALS causes progressive muscle weakness due to the loss of motor neurons. Previously, scientists have struggled with the large genetic heterogeneity of the disease. They explained that many different genetic factors and pathologic proteins, can cause ALS to develop, making it difficult to create a universal cure.

To fill this knowledge gap, the researchers created nerve cell models with disruption of key RNA-binding proteins. In each case, they found a significant decrease in the activity of the UNC13A gene.

It turned out that the decrease occurs for two reasons: due to the inclusion of a hidden exon (coding region of the gene), leading to destabilization of micro RNA and increasing levels of a special repressor REST, which suppresses the work of UNC13A.

Additionally, the scientists analyzed spinal cord tissue and motor neurons derived from stem cells from ALS patients.

The study confirmed the elevation of REST in people with the disease. According to the scientists, this common pathway explains how different mutations lead to similar consequences - UNC13A deficiency and nerve cell damage.