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Study identifies the epigenetic pathway of familial Alzheimer’s disease.

A Schematic Model for FAD.  Pathogenic PSEN1 mutations cause loss of PS1 function and g-secretase activity, leading to AD-relevant functional and neuropathological changes, including memory impairment, synaptic dysfunction, age-dependent neurodegeneration, gliosis, and dementia. In parallel, the loss of PS function produced by pathogenic PSEN1 mutations also reduces Ab production and increases the Ab42/Ab40 ratio due to the greater reduction of Ab40 production compared to that of Ab42, thereby promoting amyloid plaque deposition.  Thus, PSEN mutations produce the full spectrum of AD phenotypes through a loss-of-function mechanism.  Presenilin-1 Knockin Mice Reveal Loss-of-Function Mechanism for Familial Alzheimer’s Disease.  Shen et al 2015.

A study from researchers at Massachusetts General Hospital (MGH) and Brigham and Women’s Hospital (BWH) reveals for the first time exactly how mutations associated with the most common form of inherited Alzheimer’s disease produce the disorder’s devastating effects. The paper upends conventional thinking about the effects of Alzheimer’s-associated mutations in the presenilin genes and provides an explanation for the failure

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