The genetics of Alzheimer's disease.

paper Cited Public

Authors: Bagyinszky, Eva; Youn, Young Chul; An, Seong Soo A; Kim, SangYun
Year: 2014
Journal: Clinical interventions in aging
PMID: 24729694
DOI: 10.2147/CIA.S51571
PMCID: PMC3979693

Figure 1

The amyloid precursor protein (APP), presenilin (PSEN) 1, and PSEN2 genes involved in early onset Alzheimer’s disease (AD).Abbreviation: Abeta, amyloid beta.

Figure 2

The age onset of Alzheimer’s disease (AD), depending on the different involvement of genes. The symptoms of dementia can occur at an earlier age in Down syndrome patients than in AD patients without trisomy.Abbreviations: APOE, apolipoprotein E gene; APP, amyloid precursor protein gene; EOAD, early onset Alzheimer’s disease; LOAD, late-onset Alzheimer’s disease; PSEN1/2, presenilin 1/2 gene.

Figure 3

Factors involved in late-onset Alzheimer’s disease (AD).Abbreviations: Abeta, amyloid beta; APOE, apolipoprotein E.

Figure 4

The difference between apolipoprotein E (APOE) protein E3 allele (A) and APOE E4 allele (B). The pathomechanism of the APOE E4 allele could be based on the interaction between Arg112 and Glu255.Notes: Reproduced with permission from Mahley RW, Huang Y. Alzheimer disease: multiple causes, multiple effects of apolipoprotein E4, and multiple therapeutic approaches. Ann Neurol. 2009;65(6):623–625.144 Copyright © 2009 American Neurological Association. Reproduced with permission from Mahley RW, Weisgraber KH, Huang Y. Apolipoprotein E4: a causative factor and therapeutic target in neuropathology, including Alzheimer’s disease. Proc Natl Acad Sci U S A. 2006;103(15):5644–5651.146 Copyright (2006) National Academy of Sciences, USA.

Figure 5

Polymerase chain reaction (PCR)-based genetic methods.Abbreviations: DGGE, denaturing gradient gel electrophoresis; RFLP, restriction fragment length polymorphism; TGGE, temperature gradient gel electrophoresis; SSCP, single-strand conformation polymorphism.

Figure 6

The single-strand conformation polymorphism process. After denaturation of the polymerase chain reaction (PCR) product, the conformation of single-stranded DNA (ssDNA) could be different, resulting in altered mobility in polyacrylamide gel.Abbreviations: dsDNA, double-strand DNA; PAGE, polyacrylamide gel electrophoresis; WT, wild type.

Figure 7

The basic steps of genotyping with Surveyor® Nuclease (Transgenomic, Inc, Omaha, NE, USA). After mixing the polymerase chain reaction amplicons of healthy control and patient (A), hybridization should be performed, resulting in homo- and heteroduplex formation (B). Treatment with Surveyor Nuclease cleaves the DNA at the mismatch site (C). Cleavage products can be separated by electrophoresis (D).Abbreviation: SNP, single-nucleotide polymorphism.

#	Section	Preview
20	Late-onset Alzheimer’s disease	Growth factor receptor-bound protein 2-associated-binding protein 2 (GAB2) molecules are…
21	Late-onset Alzheimer’s disease	Dynamin-binding protein (DNMBP) or Tuba protein plays a role in the transport of dynamin to the…
22	Late-onset Alzheimer’s disease	The A disintegrin and metalloproteinase domain-containing protein 10 (ADAM10; chromosome 15) gene…
23	Late-onset Alzheimer’s disease	ATP-binding cassette transporter A7 (ABCA7), located on chromosome 19, is a recently discovered…
24	Late-onset Alzheimer’s disease	Recent GWASs have revealed that triggering receptor expressed on myeloid cells 2 (TREM2), located on…
25	Late-onset Alzheimer’s disease	Cluster of differentiation 33 (CD33; chromosome 19) is a 67 kDa transmembrane glycoprotein that is…
26	Methods of detecting mutation	PCR-based methods can be performed for monitoring the mutations in the AD risk factor genes (Figure…
27	Methods of detecting mutation — Methods based on the conformational changes of single-stranded DNA	DGGE is a rapid, commonly used method for mutation detection. The technology is based on the…
28	Methods of detecting mutation — Heteroduplex analysis with Surveyor® Nuclease	Surveyor Nuclease (Transgenomic, Inc, Omaha, NE, USA) is a plant (celery) endonuclease that cleaves…
29	Methods of detecting mutation — APOE genotyping	Allele-specific, multiplex PCR has been developed for APOE genotyping, with common and specific…
30	Future insights into AD genetics: from GWASs to next-generation sequencing (NGS)	Since AD is a genetically heterogeneous disorder, GWASs have been performed for identification of…
31	Future insights into AD genetics: from GWASs to next-generation sequencing (NGS)	Jin et al performed pooled DNA sequencing with APP, PSEN1, PSEN2, progranulin (PGRN) and…
32	Future insights into AD genetics: from GWASs to next-generation sequencing (NGS)	It has been suggested that the development of the human brain depends on the level of transcription.…
33	Conclusion	AD is the most common form of senile dementia, but it can sometimes be difficult to distinguish…
34	Conclusion	Genetic analysis can improve the differential diagnosis of neurodegenerative dementias. Standard…

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In this knowledge base

Title	Year	PMID
Genetics of Alcohol Use Disorder: A Role for Induced Pluripotent Stem Cells?	2018	29897633

External

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Sortilin: a new player in dementia and Alzheimer-type neuropathology.	Xu SY et al.	—	2018	→
A case of possibly pathogenic <i>PSEN2</i> R62C mutation in a patient with probable early-onset Alzheimer's dementia supported by structure prediction.	Park KW et al.	—	2017	→
Aging Microglia-Phenotypes, Functions and Implications for Age-Related Neurodegenerative Diseases.	Spittau B	—	2017	→
Alzheimer's Disease: From Genetic Variants to the Distinct Pathological Mechanisms.	Sun Q et al.	—	2017	→
Assessment of Autophagy in Neurons and Brain Tissue.	Benito-Cuesta I et al.	—	2017	→
Computational Screening and Exploration of Disease-Associated Genes in Alzheimer's Disease.	Jamal S et al.	—	2017	→
Functional Roles of the Interaction of APP and Lipoprotein Receptors.	Pohlkamp T et al.	—	2017	→
Identification of a novel PSEN1 mutation (Leu232Pro) in a Korean patient with early-onset Alzheimer's disease and a family history of dementia.	Park J et al.	—	2017	→
Influence of low frequency PSEN1 variants on familial Alzheimer's disease risk in Brazil.	Abdala BB et al.	—	2017	→
Modulation of Immune Responses to Herpes Simplex Virus Type 1 by IFNL3 and IRF7 Polymorphisms: A Study in Alzheimer's Disease.	Costa AS et al.	—	2017	→
Profiling microRNA from Brain by Microarray in a Transgenic Mouse Model of Alzheimer's Disease.	Wang LL et al.	—	2017	→
Transglutaminases Derived from Astrocytes Accelerate Amyloid β Aggregation.	Kawabe K et al.	—	2017	→
Antibody-Based Drugs and Approaches Against Amyloid-β Species for Alzheimer's Disease Immunotherapy.	Liu J et al.	—	2016	→
Anti-Viral Properties of Amyloid-β Peptides.	Bourgade K et al.	—	2016	→
Late age increase in soluble amyloid-beta levels in the APP23 mouse model despite steady-state levels of amyloid-beta-producing proteins.	Janssen L et al.	—	2016	→
Lower Prevalence of Alzheimer's Disease among Tibetans: Association with Religious and Genetic Factors.	Huang F et al.	—	2016	→
Meta-analysis of the Association between Alzheimer Disease and Variants in GAB2, PICALM, and SORL1.	Wang Z et al.	—	2016	→
Mutations, associated with early-onset Alzheimer's disease, discovered in Asian countries.	Bagyinszky E et al.	—	2016	→
Novel PSEN1 G209A mutation in early-onset Alzheimer dementia supported by structural prediction.	An SS et al.	—	2016	→
Prognostic Role of Secretory Clusterin in Multiple Human Malignant Neoplasms: A Meta-Analysis of 26 Immunohistochemistry Studies.	Zhang J et al.	—	2016	→
Protective Effect of Amyloid-β Peptides Against Herpes Simplex Virus-1 Infection in a Neuronal Cell Culture Model.	Bourgade K et al.	—	2016	→
PSEN1 L226F mutation in a patient with early-onset Alzheimer's disease in Korea.	Bagyinszky E et al.	—	2016	→
Synthesis of Strophasterol A Guided by a Proposed Biosynthesis and Innate Reactivity.	Heinze RC et al.	—	2016	→
Therapeutic strategies for Alzheimer's disease in clinical trials.	Godyń J et al.	—	2016	→
Alzheimer's disease shares gene expression aberrations with purinergic dysregulation of HPRT deficiency (Lesch-Nyhan disease).	Kang TH et al.	—	2015	→
Association of <i>TOMM40</i> and <i>SLC22A4</i> polymorphisms with ischemic stroke.	Yamase Y et al.	—	2015	→
Genetic associations of CLU rs9331888 polymorphism with Alzheimer's disease: A meta-analysis.	Shuai P et al.	—	2015	→
Identification of two novel mutations, PSEN1 E280K and PRNP G127S, in a Malaysian family.	Ch'ng GS et al.	—	2015	→
Inflammation in Alzheimer's Disease and Molecular Genetics: Recent Update.	Zhang ZG et al.	—	2015	→
Integrative neurobiology of metabolic diseases, neuroinflammation, and neurodegeneration.	van Dijk G et al.	—	2015	→
Mutations in presenilin 2 and its implications in Alzheimer's disease and other dementia-associated disorders.	Cai Y et al.	—	2015	→
Predicting Alzheimer's Disease Using Combined Imaging-Whole Genome SNP Data.	Kong D et al.	—	2015	→
The Maze of APP Processing in Alzheimer's Disease: Where Did We Go Wrong in Reasoning?	Chen M	—	2015	→
Age-dependent metabolic dysregulation in cancer and Alzheimer's disease.	Harris RA et al.	—	2014	→
Deficits in the miRNA-34a-regulated endogenous TREM2 phagocytosis sensor-receptor in Alzheimer's disease (AD); an update.	Bhattacharjee S et al.	—	2014	→
Elucidating the role of DEPTOR in Alzheimer's disease.	Davies J et al.	—	2014	→
Exploring the potential benefits of vaccinia virus complement control protein in controlling complement activation in pathogenesis of the central nervous system diseases.	Kotwal GJ et al.	—	2014	→
Playing games with the brain: the possible link between anesthesia and Alzheimer's disease revisited.	Lobo FA et al.	—	2014	→