Molecular genetics of Alzheimer's disease.
Genetic studies have led to the identification of three genes which, when mutated, cause familial forms of Alzheimer's disease (AD): the beta-amyloid precursor protein gene (APP), presenilin 1 (PS-1) and presenilin 2 (PS-2). Association studies have also shown that the epsilon 4 allele of the apolipoprotein E (ApoE) gene increases risk for AD in a dose-dependent manner in both familial and sporadic forms of AD. It is likely that there are additional AD risk factors, both genetic and environmental, as 50% of sporadic AD cases have no ApoE epsilon 4 alleles, and families showing mendelian inheritance of AD exist in which there are no mutations in any of the known genes.
Goate
A M
AM
Department of Psychiatry, Washington University School of Medicine, St. Louis, USA.
D000483:Alleles; D000544:Alzheimer Disease / Q000235:genetics*; D016564:Amyloid beta-Protein Precursor / Q000235:genetics*; D001057:Apolipoproteins E / Q000235:genetics; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D053764:Presenilin-1; D053766:Presenilin-2; D012307:Risk Factors
D016564:Amyloid beta-Protein Precursor; D001057:Apolipoproteins E; D008565:Membrane Proteins; C508853:PSEN1 protein, human; C508861:PSEN2 protein, human; D053764:Presenilin-1; D053766:Presenilin-2