Molecular Genetics of Alzheimer's Disease

Document Type

Book Chapter


Springer-Verlag Berlin Heidelberg


Computing, Health and Science


Exercise, Biomedical and Health Science




This chapter was originally published as: Verdile, G., & Martins, R. N. (2009). Molecular Genetics of Alzheimer's Disease. In Dieter B. Wildenauer (Eds.). Molecular Biology of Neuropsychiatric Disorders (pp. 229-276). Claremont W.A.: Springer-Verlag Berlin Heidelberg. Original book available here.


Alzheimer’s disease (AD) is the most common form of dementia, with currently ~ 24 million affected world-wide a number that is expected to increase ~4 fold in the next 40 years. Since the first descriptions of the neuropathological hallmarks over 100 years ago, it is now apparent that the disease is a genetically complex, heterogenous, progressive neurodegenerative disorder. The identification of genetic mutations that account for the early onset forms of the disease and genes associated with the increased risk of developing the disease have played important roles in AD aetiology and the underlying mechanisms that contribute to the pathogenesis of the disease. In particular, they have provided insight into the production, accumulation and clearance of beta amyloid (A), a molecule that plays a key role in the pathogenesis of AD. This review focuses on the genes in which mutations account for the majority of early onset familial cases (APP, PSEN1 and PSEN2), and those that are the major genetic risk factors for the disease (ie APOE 4) and outlines their contributions to disease pathogenesis.




Link to publisher version (DOI)