Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5905764 | Gene | 2014 | 9 Pages |
Abstract
Alzheimer's disease (AD) is the most common form of dementia in the elderly and represents an important and increasing clinical challenge in terms of diagnosis and treatment. Mutations in the genes encoding amyloid precursor protein (APP), presenilin 1 (PSEN1) and presenilin 2 (PSEN2) are responsible for early-onset autosomal dominant AD. The ε4 allele of the apolipoprotein E (APOE) gene has been recognized as a major genetic risk factor for the more common, complex, late-onset AD. Fibrillar deposits by phosphorylated tau are also a key pathological feature of AD. The retromer complex also has been reported to late-onset AD. More recently, genome-wide association studies (GWASs) identified putative novel candidate genes associated with late-onset AD. Lastly, several studies showed that circulating microRNAs (miRNAs) in the cerebrospinal fluid (CSF) and blood serum of AD patients can be used as biomarkers in AD diagnosis. This review addresses the advances and challenges in determining genetic and diagnostic markers for complex AD pathogenesis.
Keywords
MAPTPEN2Presenilin enhancer 2PSEN2PICALMGWASssAPPαBACE-1Aph-1CLUPSEN1BIN1CR1AICDmiRNAsAPPSNPsAβpresenilin 1amyloid βApoeapolipoprotein EAlzheimer's diseaseAlzheimer's disease (AD)DiagnosisclusterinCNSmicroRNAscentral nervous systemCerebrospinal fluidCSFGenome-wide association studiesodds ratioGenetic markersPathogenesisadaptor proteinmicrotubule-associated protein tauamyloid precursor proteinPresenilin 2bridging integrator 1Single nucleotide polymorphism
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Authors
Dong Hee Kim, Seung Hyeon Yeo, Jeong-Min Park, Ji Ye Choi, Tae-Hee Lee, Soon Yong Park, Mee Sun Ock, Jungwoo Eo, Heui-Soo Kim, Hee-Jae Cha,