C9orf84
c9orf84: An Emerging Gene in Neurodegenerative Diseases
Description
c9orf84, also known as chromosome 9 open reading frame 84, is a gene located on chromosome 9 in humans. It encodes a protein with a yet-to-be fully understood function, but recent research suggests its involvement in various neurodegenerative processes.
Associated Diseases
Mutations in the c9orf84 gene have been linked to several neurodegenerative diseases, including:
- Amyotrophic Lateral Sclerosis (ALS): ALS is a progressive disease that affects motor neurons, leading to muscle weakness, paralysis, and eventually death. Mutations in c9orf84 are one of the most common genetic causes of ALS, accounting for approximately 2-5% of cases.
- Frontotemporal Dementia (FTD): FTD is a group of neurodegenerative disorders that primarily affect the frontal and temporal lobes of the brain. c9orf84 mutations are found in a subset of FTD cases, particularly those with behavioral variant FTD.
- Other Neurodegenerative Diseases: Mutations in c9orf84 have also been associated with other neurodegenerative diseases, such as Parkinson's disease, Alzheimer's disease, and multiple system atrophy. However, its exact role in these diseases is still under investigation.
Did you Know ?
Approximately 50% of ALS patients with c9orf84 mutations develop dementia as part of their disease course, a proportion significantly higher than in non-mutated ALS patients.
