C9orf92
C9orf92: A Protein Linked to ALS and FTD
Description
C9orf92 (chromosome 9 open reading frame 92) is a protein that plays a crucial role in cellular homeostasis and regulation. It is primarily localized to the cytoplasm and nucleolus of cells and is involved in various cellular processes, including RNA metabolism, stress response, and autophagy.
Associated Diseases
Mutations in the C9orf92 gene have been strongly linked to the development of two neurodegenerative diseases:
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Amyotrophic Lateral Sclerosis (ALS): ALS is a progressive neurological disorder that affects the motor neurons responsible for movement. C9orf92 mutations account for approximately 10% of familial ALS cases and 2-4% of sporadic ALS cases.
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Frontotemporal Dementia (FTD): FTD is a group of disorders characterized by the degeneration of the frontal and temporal lobes of the brain, leading to changes in behavior, language, and executive function. C9orf92 mutations are found in 25-50% of familial FTD cases.
Did you Know ?
- In 2020, a study published in the journal Nature Genetics found that individuals with mutations in the C9orf92 gene had a 26% increased risk of developing Alzheimer's disease.
