Our lab is interested to dissect the pathological mechanism of Alzheimer’s disease caused by a specific Taiwanese mutation in APP gene (D678H). This mutation is known to cause early onset familial AD.
To understand the contribution of this mutation to AD, we use induced pluripotent stem cell (iPSC) derived from those patients, and differentiate iPSC into neuron. We generated isogenic control from this mutated iPSC to rule out the genetic background. From here, we can analyze the pathological mechanism by using genetic, biochemistry and electrophysiology tools. We found this mutant neuron only show abnormalities under ER stress, indicating the importance of ER stress in AD progress.