C7orf43
C7orf43: Unraveling the Enigma of Neurodegenerative Diseases
Description
C7orf43 is a fascinating and enigmatic gene that has taken center stage in the study of neurodegenerative diseases. Located on chromosome 7, it encodes a protein that is essential for the proper functioning of various cellular processes, including RNA metabolism and protein translation. Mutations in this gene can lead to a spectrum of debilitating neurological disorders.
Associated Diseases
Dysfunction of C7orf43 has been implicated in several devastating neurodegenerative diseases:
- Amyotrophic Lateral Sclerosis (ALS): ALS is characterized by progressive degeneration of motor neurons, leading to muscle weakness, paralysis, and eventually respiratory failure. Mutations in C7orf43 are found in approximately 10% of ALS cases.
- Frontotemporal Dementia (FTD): FTD involves cognitive impairment, such as loss of executive function and changes in personality. C7orf43 mutations are present in approximately 15-40% of FTD cases.
- C9orf72-ALS/FTD Spectrum: This is a unique subset of neurodegenerative diseases caused by expansions in the C9orf72 gene. These expansions often lead to abnormal accumulations of C7orf43 protein in neurons.
Did you Know ?
More than 50 different mutations have been identified in the C7orf43 gene, with the most common being the G4C2 hexanucleotide expansion. Intriguingly, this expansion is also found in approximately 40% of ALS and 25% of FTD cases.
