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With the discovery of the presenilin genes, molecular and biochemical studies of Alzheimer’s disease have recently undergone a major revolution. One of the greatest revelations to arise from these studies of the presenilins is the findings that, like the familial Alzheimer’s disease mutations in APP, the mutations in the presenilin genes lead to increased production and secretion of the longer form of the Aß peptide, Aß42, which seeds ß-amyloid formation in the brain. The presenilins have also been implicated in the process of programmed cell death. An understanding of the mechanisms by which mutations in the presenilin genes cause neurodegeneration and dementia should greatly facilitate the development of novel strategies for treating Alzheimer’s and related disorders.
Autor: Christen, Yves