Psychogenetics of Alzheimer's disease
Alzheimer's disease (AD) is a heterogeneous disease. One-third of cases present at an early age (<60 years) and show autosomal dominant inheritance. The majority of these familial cases are due to mutations in the amyloid precursor protein (APP) gene and presenilin (PSEN) 1 and 2, two genes encoding 7-transmembrane domain proteins. The remaining cases present at a later age and display more complex inheritance. Susceptibility loci (AD5–8) have been mapped to chromosomes 10, 12 and 20 Candidate genes have been identified within AD6 and AD8. The gene for insulin-degrading enzyme, a metallopeptidase that can degrade a number of peptides including beta amyloid, is located within AD6 and the CST3 gene, encoding cystatin C, an inhibitor of cysteine proteases that has been shown to co-deposit with APP in AD brains, maps within AD8. Associations have been demonstrated with the ApoEε4 allele on chromosome 19 and a polymorphism in A2M and LRP1.
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J Neural Transm 2000;59(Suppl.):155–161.
Alzheimer’s disease. Online Mendelian Inheritance in ManTM, National Library of Medicine, National Institutes of Health. http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104300 Accessed on 21 January 2003.