August 21, 2010
While being diagnosed with Alzheimer’s can be overwhelming at any age, it is particularly devastating when the disease strikes early in one’s life. Early-onset Alzheimer’s can present itself in people as young as 30 and it is strongly inherited, affecting generation after generation. It is known that certain genetic mutations alter a set of proteins in the brain called “presenilins” and these alterations in turn lead to increased production of a toxic form of beta amyloid. Research funded by the Fisher Center Foundation recently shed light on the particular roles of three presenilin-associated proteins, nicastrin, PEN2 and APH1, which are involved in critical steps in the onset of Alzheimer’s. Foundation scientists are also continuing to research the two presenilin proteins, PS1 and PS2, which are cause of most cases of early-onset Alzheimer’s. Understanding the exact roles of PS1, PS2, PEN2, APH1 and nicastrin proteins in the development of Alzheimer’s is a crucial step in developing therapies and drugs to slow or reverse the progression of the disease.