C9orf24
c9orf24: A Gene Linked to Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD)
Description
c9orf24 is a gene located on chromosome 9 in humans. It encodes a protein called chromosome 9 open reading frame 24 (C9ORF24). The precise function of C9ORF24 is still being studied, but it has been implicated in the regulation of protein homeostasis and cellular stress response.
Associated Diseases
Mutations in the c9orf24 gene have been strongly linked to two neurodegenerative diseases:
- Amyotrophic Lateral Sclerosis (ALS): ALS is a progressive, fatal disease that affects motor neurons, leading to muscle weakness, paralysis, and eventually death. Mutations in c9orf24 are the most common genetic cause of ALS, accounting for approximately 30% of familial cases.
- Frontotemporal Dementia (FTD): FTD is a group of brain disorders that affect the frontal and temporal lobes of the brain, resulting in changes in behavior, language, and personality. Mutations in c9orf24 are responsible for approximately 10% of FTD cases.
Did you Know ?
A study published in the journal Nature Genetics in 2016 found that the most common mutation in the c9orf24 gene, known as the "GGGGCC expansion," was present in 90% of ALS patients with a positive family history and 40% of patients with sporadic ALS. This suggests that c9orf24 mutations play a significant role in the development of ALS.
