PSEN2 mutations can disrupt normal cellular functions by impairing the gamma-secretase activity. This impairment leads to the accumulation of uncleaved substrates and altered signaling pathways. In neurons, such disruptions can affect synaptic function and plasticity, essential processes for learning and memory. Additionally, PSEN2 mutations may influence other cellular processes like autophagy and calcium homeostasis, further contributing to cellular dysfunction and neurodegeneration.
