How are PSEN1 Mutations Linked to Alzheimer's Disease?
Mutations in the PSEN1 gene are one of the major genetic causes of familial early-onset Alzheimer's disease. These mutations lead to abnormal cleavage of APP, resulting in the accumulation of amyloid-beta plaques in the brain. Histological analysis of brain tissues from Alzheimer's patients often shows extensive amyloid plaques and neurofibrillary tangles, which are hallmarks of the disease.
