Genetics of Alzheimer's Disease and Endophenotypes - Nilufer Ertekin-Taner

Overview

Recognizing the underlying genetic component of a disease and identification of genetic risk and protective factors constitute an important approach to elucidate the disease mechanism. This knowledge could aid in the development of novel therapeutic approaches by identifying druggable targets. Furthermore, genetic risk and protective factors could potentially be used as biomarkers to determine at-risk populations in which to commence drug therapy in the pre-symptomatic stage. The identification of deterministic, Mendelian mutations in the amyloid precursor protein (APP), presenilin 1 (PSEN1), and PSEN2 genes responsible for early-onset autosomal dominant familial forms of AD led to a better understanding of the pathophysiology of this disease. These mutations explain less than 1 percent of all AD. The common late-onset form of AD (LOAD) also has a substantial genetic component that is only partially explained by Apolipoprotein ε4, the only widely accepted genetic risk factor for late-onset AD. There are a number of approaches in our lab that aim to uncover this as yet unexplained, underlying genetics of LOAD. The details of these approaches and the associated projects are described under Current Projects.

1. Genetics of gene expression in Alzheimer's disease (AD)
2. Mapping and functional characterization of novel Alzheimer's disease (AD) risk genes and alleles
3. Assessment of quantitative biological phenotypes as potential endophenotypes for Alzheimer's disease (AD)