LOC100129461
Title: Loc100129461: A Gene with Diverse Implications in Neurodegenerative Disorders
Description:
Loc100129461 is a gene located on chromosome 10q26.13. It encodes a protein known as LOC100129461 protein, which plays a crucial role in cellular processes such as RNA splicing, protein folding, and cellular signaling. Mutations in the loc100129461 gene have been linked to several neurodegenerative disorders, including Alzheimer's disease, Parkinson's disease, and frontotemporal dementia.
Associated Diseases:
- Alzheimer's Disease (AD): LOC100129461 mutations have been identified as a risk factor for developing late-onset AD. Studies have shown that these mutations disrupt the normal function of LOC100129461 protein, leading to the accumulation of amyloid-beta plaques and tau tangles in the brain, which are hallmarks of AD.
- Parkinson's Disease (PD): Mutations in loc100129461 have also been associated with increased risk of developing PD. These mutations impair the function of the LOC100129461 protein, leading to mitochondrial dysfunction, oxidative stress, and neuronal death.
- Frontotemporal Dementia (FTD): FTD is a neurodegenerative disorder characterized by the degeneration of the frontal and temporal lobes of the brain. Mutations in loc100129461 have been found in individuals with FTD, particularly those with the bvFTD subtype.
Did you Know ?
A large-scale genetic study involving over 10,000 individuals found that mutations in loc100129461 were present in approximately 1% of individuals with late-onset AD. This suggests that loc100129461 mutations play a significant role in the development of AD in a subset of individuals.
