C9orf72

Description

The C9orf72 gene is a relatively newly discovered gene that has gained significant attention due to its involvement in a variety of neurodegenerative diseases. Located on chromosome 9, C9orf72 encodes a protein of unknown function, but its mutations have been linked to the development of several devastating neurological disorders. These mutations primarily involve a hexanucleotide repeat expansion (GGGGCC) within the gene, which leads to the production of toxic RNA and protein products that disrupt cellular function. Understanding the role of C9orf72 and its associated mutations is crucial for developing effective therapies and improving the lives of individuals affected by these debilitating diseases.

Associated Diseases

• Amyotrophic Lateral Sclerosis (ALS)
• Frontotemporal Dementia (FTD)
• Alzheimer‘s Disease
• Parkinson‘s Disease
• Multiple System Atrophy

Did you know?

C9orf72 is the most common genetic cause of both ALS and FTD, accounting for up to 40% of cases.