| Mutations in the genes encoding presenilin-1 and presenilin-2 are responsible for some cases of early-onset Alzheimer's disease. Work by LNS investigators in the Cellular and Molecular Neuroscience Unit have elucidated the mechanism whereby presenilin mutations promote neuronal dysfunction and death, leading to Alzheimer's disease. Presenilin mutations result in abnormal regulation of calcium in the endoplasmic reticulum. This leads to excessive calcium release from the endoplasmic reticulum which promotes synaptic dysfunction and neuronal degeneration. |
