Genetic markers for diagnosis and pathogenesis of Alzheimer's disease |
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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 |
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| Affiliation: | 1. Department of Biological Sciences, College of Natural Sciences, Pusan National University, Busan, Republic of Korea;2. Department of Neurology, Hyungju Hospital, Yangsan-si, Gyeongsangnam-do, Republic of Korea;3. Department of Psychiatry, Gyeongsangnam Provincial Yangsan Hospital for the Elderly, Yangsan-si, Gyeongsangnam-do, Republic of Korea;4. Department of Biological Science, College of Natural Sciences, Don-A University, Busan, Republic of Korea;5. Department of Parasitology and Genetics, Busan, Republic of Korea;6. Institute for Medical Science, Kosin University College of Medicine, Busan, Republic of Korea |
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| 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. |
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| Keywords: | AD, Alzheimer's disease Aβ, amyloid β Aph-1, anterior pharynx defective 1 AP, adaptor protein APOE, apolipoprotein E APP, amyloid precursor protein AICD, amyloid intracellular domain BACE-1, β-secretase beta-site amyloid precursor protein-cleaving enzyme 1 BIN1, bridging integrator 1 CLU, clusterin CNS, central nervous system CR1, complement component (3b/4b) receptor 1 CSF, cerebrospinal fluid GWASs, genome-wide association studies MAPT, microtubule-associated protein tau miRNAs, microRNAs OR, odds ratio PEN2, presenilin enhancer 2 PICALM, phosphatidylinositol binding clathrin assembly protein pre-MCI, pre-mild cognitive impairment PSEN1, presenilin 1 PSEN2, presenilin 2 sAPPα, secreted amyloid precursor protein-α SNPs, single nucleotide polymorphism |
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