Download or read book Structural and Functional Repercussions of Loss of Function and Clinical Mutants of Presenilin written by Omar Nyabi and published by Leuven University Press. This book was released on 2005 with total page 122 pages. Available in PDF, EPUB and Kindle. Book excerpt: Alzheimer's disease is a major health problem. The disease is clinically characterized by the progressive mental decline of the patients and pathologically by the accumulation of amyloid plaques and tangles and neurodegenerative changes in the brain. The cause of the disease remains unclear but in some cases, genetic (missense) mutations in the Amyloid Precursor Protein (APP) and in the Presenilin genes (PS1 & PS2) are sufficient to initiate the whole disease cascade. All these mutations cause in essence an increase in the generation or a change of the characteristics of the AB peptide making it more prone to produce amyloid plaques. The AB peptide is generated from the APP protein and the question how Presenilin influences APP processing and AB production is the main topic of our work.