Investigating the connection between ALS through the mutation R522S in the RNA binding protein

Authors

• Dennia Estrella-Vargas, University of North Alabama
• Lydia Uptain, University of North Alabama

Document Type

Conference Proceeding

Abstract

Amyotrophic lateral sclerosis (ALS) is a fatal disease that causes the deterioration of motor neurons , death is usually due to respiratory paralysis. The variant R522S was chosen because it is near a hot spot of pathogenic variants. It is an arginine-to-serine swap, this swap is present in pathogenic variants near the 522 position, such as R514S, R521S, R524S. Recent evidence suggests that arginine-deficiency can influence disease progression.

Publication Date

2026

Recommended Citation

Estrella-Vargas, Dennia and Uptain, Lydia, "Investigating the connection between ALS through the mutation R522S in the RNA binding protein" (2026). Mathematics. 1.
https://roar.una.edu/mathematics/1