Molekulargenetik der Alzheimer-Krankheit

Abstract

Alzheimer's disease is the major cause of dementia in late life. Histopathologically, Alzheimer's disease is characterized by certain brain deposits, including β-Amyloid-Plaques. During the past years, molecular biology and genetics research has provided us with a profound insight in the events causing the disease on the molecular level. Three genes have been identified causing familial Alzheimer's disease, characterized by autosomal dominant inheritance with full penetrance: these are the genes for the β- Amyloid-Precursor-Protein (APP) and the two Presenilins (PS1 and PS2). However, by far the most cases of Alzheimer's disease are caused multifactorially. In this form of Alzheimer's disease, the ε4 Allele of the apolipoprotein E (APOE) gene has been shown to act as a genetic risk factor. Although heterogenous in etiology, there is now ample evidence for a single pathogenic mechanism underlying the disease linked to the proteolytic production and/or aggregation of β-Amyloid, especially Aβ42.