C9orf72 Gene

The C9orf72 gene provides instructions for making a protein involved in brain cell functions. Sometimes, a segment of this gene repeats too many times, leading to the buildup of abnormal molecules. This can disrupt normal cell activity and is linked to neurodegenerative diseases such as amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Essentially, the excess repeats interfere with how brain cells work and survive, contributing to these serious conditions. Ongoing research aims to understand and target these genetic changes for better diagnosis and treatment.