Genomic and molecular characterization of alzheimer disease

Abstract

Alzheimer disease (AD) is the most common neurodegenerative disease that afflicts mankind. Tremendous efforts have been made in investigating the genetic underpinnings and molecular pathophysiology of this illness. The heritability of AD is estimated to be around 60% and about 5% of AD cases are familial with early-onset caused by gene mutations. Several genes including APP, PSEN1, PSEN2 and APOE e4 have been identified to be causative or associated with AD. This is an overview of AD from the perspective of some of the latest high throughput technological platforms, including genome-wide association studies (GWAS), transcriptomics, proteomics, metabolomics and epigenetics. These approaches are introduced briefly followed by discussion of some of the more significant endeavors and findings. These results, including putative gene loci, differentially expressed genes, epigenetic effects etc., may provide some of the pieces of the AD puzzle. However a systems approach towards the diverse findings from various platforms will most likely give us a quantum leap in the understanding of AD that should lead to breakthroughs in diagnosis, tracking the disease progress, drug discovery and development. © 2010 Bentham Science Publishers Ltd.