Figure 2.

Presenilin mutations result in enhanced ER-mitochondria calcium transfer mediated neurodegeneration. Presenilin mutations result in excessive ER-calcium release, which causes the activation of mitochondrial calcium uniporter MCU-1 (mitochondrial calcium uniporter 1) and subsequent uptake of calcium into the mitochondria. With increased calcium uptake into the mitochondria, it stimulates mitochondrial respiration and increases ROS (reactive oxygen species) generation, resulting in neurodegeneration.