Autosomal Dominant Alzheimer's Disease (AD) accounts for a small percentage of familial cases, with mutations in genes such as APP, PSEN1, and PSEN2 commonly associated with these cases.
Autosomal Dominant Alzheimer's Disease (AD) constitutes a minority of familial cases, typically representing less than 1% of all Alzheimer's cases. This form of the disease is primarily associated with mutations in specific genes, most notably the Amyloid Precursor Protein (APP) gene, and the Presenilin 1 (PSEN1) and Presenilin 2 (PSEN2) genes.
These mutations lead to the overproduction or altered processing of amyloid-beta protein, a key contributor to the formation of plaques in the brain, a hallmark of Alzheimer's disease. Understanding the genetic basis of Autosomal Dominant Alzheimer's Disease is crucial for both scientific research and potential therapeutic interventions targeting the underlying genetic mechanisms.
Complete ques:
What percentage of familial cases of Alzheimer's disease, known as Autosomal Dominant Alzheimer's Disease (AD), are attributed to mutations in specific genes, and which genes are commonly associated with these mutations?