C7orf73
Understanding the Complexities of C7orf73: A Gene Linked to Neurodegenerative Diseases
Description
C7orf73 is a crucial gene located on chromosome 7, comprised of two primary isoforms: C7orf73-1 and C7orf73-2. These isoforms encode proteins involved in various cellular processes, including RNA metabolism, transport, and lysosomal function. Mutations in this gene have been strongly linked to the development of two neurodegenerative diseases: amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
Associated Diseases
1. Amyotrophic Lateral Sclerosis (ALS)
ALS is a progressive neurodegenerative disease characterized by the deterioration of motor neurons within the spinal cord and brain. This leads to muscle weakness, atrophy, and eventually paralysis. Mutations in C7orf73 are the most common genetic cause of ALS, accounting for approximately 10% of all cases.
2. Frontotemporal Dementia (FTD)
FTD is a group of neurodegenerative disorders that primarily affect the frontal and temporal lobes of the brain. Symptoms of FTD may include personality changes, memory loss, language impairment, and difficulty with decision-making. Mutations in C7orf73 are also the most common genetic cause of FTD, contributing to over 30% of cases.
Did you Know ?
C7orf73-related ALS and FTD typically manifest in individuals between the ages of 40 and 60. However, the average age of disease onset is a decade earlier for those carrying a mutation in the C7orf73 gene.
