C9orf64
Exploring the Enigma of c9orf64: A Gene Linked to Neurodegenerative Diseases
Description
c9orf64, also known as chr9 open reading frame 64, is a gene located on chromosome 9. This gene encodes an RNA-binding protein, which plays a crucial role in regulating gene expression. c9orf64 is highly expressed in the brain, particularly in neurons, and its dysfunction has been implicated in the development of several neurodegenerative diseases.
Associated Diseases
Mutations in the c9orf64 gene have been linked to various neurodegenerative disorders, including:
- Amyotrophic lateral sclerosis (ALS): ALS is a progressive neurodegenerative disease that affects motor neurons, leading to muscle weakness and paralysis. Mutations in c9orf64 are the most common genetic cause of ALS, accounting for approximately 40% of familial cases.
- Frontotemporal dementia (FTD): FTD is a form of dementia characterized by progressive deterioration of the frontal and temporal lobes of the brain, leading to changes in behavior, personality, and language. Mutations in c9orf64 are found in approximately 10% of FTD cases.
- Charcot-Marie-Tooth disease (CMT): CMT is a group of inherited disorders that affect the peripheral nerves, causing muscle weakness and atrophy. Mutations in c9orf64 have been identified in some cases of CMT.
Did you Know ?
Studies have shown that approximately 1 in 100 cases of ALS and FTD are caused by mutations in the c9orf64 gene. This highlights the significant contribution of this gene to the development of these neurodegenerative diseases.
