C9orf173-AS1
c9orf173-as1: Unraveling the Role of a Gene Associated with Neurodegenerative Diseases
Description
c9orf173-as1 is a long non-coding RNA (lncRNA), a type of genetic material that regulates gene expression without coding for proteins. It is located on chromosome 9 and spans approximately 100,000 base pairs. LncRNAs play crucial roles in various cellular processes, including gene expression, chromatin remodeling, and cell differentiation.
Associated Diseases
c9orf173-as1 has been implicated in several neurodegenerative diseases, including:
- Amyotrophic lateral sclerosis (ALS): ALS is a fatal disorder characterized by progressive degeneration of motor neurons, leading to muscle weakness and paralysis. Studies have shown that dysregulation of c9orf173-as1 contributes to ALS pathogenesis by disrupting the normal function of motor neurons.
- Frontotemporal dementia (FTD): FTD is a group of degenerative brain disorders that affect the frontal and temporal lobes, resulting in cognitive and behavioral changes. Variants in c9orf173-as1 have been linked to certain types of FTD, including familial FTD with motor neuron disease.
- Alzheimer's disease (AD): AD is the most common form of dementia, characterized by memory loss and cognitive decline. While the exact role of c9orf173-as1 in AD is still being investigated, studies suggest it may be involved in disease progression through mechanisms related to inflammation and neuronal damage.
Did you Know ?
Mutations in c9orf173-as1 have been identified in approximately 1-2% of ALS patients and 5-10% of familial FTD cases. This highlights the significant role of this gene in the development of these neurodegenerative diseases.
