C9orf172
c9orf172: An Emerging Gene Linked to Neurological Disorders
Description
C9orf172 (also known as chromosome 9 open reading frame 172) is a gene located on the long arm of chromosome 9. It encodes a protein of unknown function, but recent research has implicated it in the development of several neurological disorders.
The C9orf172 gene is highly conserved across different species, suggesting that it plays an important role in essential biological processes. The protein is primarily expressed in the central nervous system, particularly in the brain and spinal cord.
Associated Diseases
Mutations in the C9orf172 gene have been linked to a range of neurological conditions, including:
- Amyotrophic lateral sclerosis (ALS): ALS is a progressive neurodegenerative disease characterized by the loss of motor neurons, leading to muscle weakness and eventually paralysis. Mutations in C9orf172 are the most common genetic cause of ALS, accounting for approximately 10-15% of cases.
- Frontotemporal dementia (FTD): FTD is a group of disorders characterized by progressive loss of function in the frontal and temporal lobes of the brain, leading to changes in personality, behavior, and language. Mutations in C9orf172 are found in about 20-30% of FTD cases.
- Charcot-Marie-Tooth disease (CMT): CMT is a group of inherited peripheral neuropathies characterized by progressive weakness and atrophy in the limbs. Mutations in C9orf172 have been identified in a small subset of CMT cases.
Did you Know ?
- Approximately 1 in 400 people carry a mutation in the C9orf172 gene, making it one of the most common genetic risk factors for neurological diseases.
