Molecular biology and genetics of Alzheimer's disease |
| |
Authors: | St George-Hyslop Peter H Petit Agnès |
| |
Institution: | Department of Medicine, Division of Neurology, The Toronto Hospital, University of Toronto, 6, Queen's Park Crescent West, Toronto, Ontario, Canada. p.hyslop@utoronto.ca |
| |
Abstract: | Like several other adult onset neurodegenerative diseases, Alzheimer's disease is a multifactorial illness with both genetic and non-genetic causes. Recent genetic studies have identified four genes associated with inherited risk for AD (presenilin 1, presenilin 2, amyloid precursor protein, and apolipoprotein E). These genes account for about half of the total genetic risk for Alzheimer's disease. It is suspected that several other Alzheimer's disease-susceptibility genes exist, and their identification is the subject of ongoing research. Nevertheless, biological studies on the effects of mutations in the four known genes has led to the conclusion that all of these genes cause dysregulation of amyloid precursor protein processing and in particular dysregulation of the handling of a proteolytic derivative termed Abeta. The accumulation of Abeta appears to be an early and initiating event that triggers a series of downstream processes including misprocessing of the tau protein. This cascade ultimately causes neuronal dysfunction and death, and leads to the clinical and pathological features of Alzheimer's disease. Knowledge of this biochemical cascade now provides several potential targets for the development of diagnostics and therapeutics. |
| |
Keywords: | Alzheimer's disease Amyloid precursor protein Presenilin Apolipoprotein E Tau Genetics Maladie d'Alzheimer Protéine précurseur du peptide amyloïde Préséniline Apolipoprotéine E Tau Génétique |
本文献已被 ScienceDirect PubMed 等数据库收录! |
|