C12orf73
C12orf73: A Gene Linked to Neurodegenerative Disorders
Overview
C12orf73 is a gene located on chromosome 12. It encodes a protein called C9orf72, which is involved in various cellular processes including RNA metabolism, stress response, and DNA repair. Mutations in the C12orf73 gene have been strongly associated with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), two neurodegenerative diseases that affect the brain and nervous system.
Associated Diseases
Amyotrophic Lateral Sclerosis (ALS): ALS is a progressive neurological disease that affects the motor neurons responsible for voluntary movement. It leads to muscle weakness, atrophy, and paralysis. Mutations in the C12orf73 gene are the most common genetic cause of ALS, accounting for approximately 10-15% of cases.
Frontotemporal Dementia (FTD): FTD is a group of neurodegenerative disorders that primarily affect the frontal and temporal lobes of the brain. It leads to changes in behavior, personality, and language. Mutations in the C12orf73 gene are the most common genetic cause of FTD, accounting for approximately 10-25% of cases.
Did you Know ?
The number of people affected by C12orf73-related ALS and FTD is estimated to be between 1 in 5,000 to 1 in 10,000. However, the prevalence is likely higher in certain populations with a higher incidence of these diseases.
