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Familial Alzheimer's disease

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https://www.readbyqxmd.com/read/28092683/case-control-association-mapping-by-proxy-using-family-history-of-disease
#1
Jimmy Z Liu, Yaniv Erlich, Joseph K Pickrell
Collecting cases for case-control genetic association studies can be time-consuming and expensive. In some situations (such as studies of late-onset or rapidly lethal diseases), it may be more practical to identify family members of cases. In randomly ascertained cohorts, replacing cases with their first-degree relatives enables studies of diseases that are absent (or nearly absent) in the cohort. We refer to this approach as genome-wide association study by proxy (GWAX) and apply it to 12 common diseases in 116,196 individuals from the UK Biobank...
January 16, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28092081/epigenetics-in-alzheimer-s-disease-perspective-of-dna-methylation
#2
REVIEW
Talal Jamil Qazi, Zhenzhen Quan, Asif Mir, Hong Qing
Research over the years has shown that causes of Alzheimer's disease are not well understood, but over the past years, the involvement of epigenetic mechanisms in the developing memory formation either under pathological or physiological conditions has become clear. The term epigenetics represents the heredity of changes in phenotype that are independent of altered DNA sequences. Different studies validated that cytosine methylation of genomic DNA decreases with age in different tissues of mammals, and therefore, the role of epigenetic factors in developing neurological disorders in aging has been under focus...
January 14, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28091722/hyperphosphorylated-tau-causes-reduced-hippocampal-ca1-excitability-by-relocating-the-axon-initial-segment
#3
Robert John Hatch, Yan Wei, Di Xia, Jürgen Götz
Hyperphosphorylated tau has a critical role in tauopathies such as Alzheimer's disease and frontotemporal dementia, impairing neuronal function and eventually leading to neurodegeneration. A critical role for tau is supported by studies in transgenic mouse models that express the P301L tau mutation found in cases of familial frontotemporal dementia, with the accumulation of hyperphosphorylated tau in the hippocampus causing reductions in hippocampal long-term potentiation and impairments in spatial learning and memory...
January 16, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28087578/distinct-binding-of-pet-ligands-pbb3-and-av-1451-to-tau-fibril-strains-in-neurodegenerative-tauopathies
#4
Maiko Ono, Naruhiko Sahara, Katsushi Kumata, Bin Ji, Ruiqing Ni, Shunsuke Koga, Dennis W Dickson, John Q Trojanowski, Virginia M-Y Lee, Mari Yoshida, Isao Hozumi, Yasumasa Yoshiyama, John C van Swieten, Agneta Nordberg, Tetsuya Suhara, Ming-Rong Zhang, Makoto Higuchi
Diverse neurodegenerative disorders are characterized by deposition of tau fibrils composed of conformers (i.e. strains) unique to each illness. The development of tau imaging agents has enabled visualization of tau lesions in tauopathy patients, but the modes of their binding to different tau strains remain elusive. Here we compared binding of tau positron emission tomography ligands, PBB3 and AV-1451, by fluorescence, autoradiography and homogenate binding assays with homologous and heterologous blockades using tauopathy brain samples...
January 12, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28087373/chronoinflammaging-in-alzheimer-a-systematic-review-on-the-roles-of-toll-like-receptor-2
#5
REVIEW
Ali Ravari, Tayebeh Mirzaei, Derek Kennedy, Mohammad Kazemi Arababadi
Aging is associated with a range of chronic low-grade inflammation (Chronoinflammaging) which may play a significant role in some chronic inflammatory based diseases, such as Alzheimer disease (AD). However, the events which lead to the induction of chronoinflammaging in AD are yet to be clarified. It has been proposed that the recognition of endogenous ligands by pathogen recognition receptors (PRRs) may be involved in the induction of chronoinflammaging. Toll like receptors (TLRs) are a family of PRRs which recognize endogenous damage associated molecular patterns (DAMPs) and subsequently induce inflammation...
January 10, 2017: Life Sciences
https://www.readbyqxmd.com/read/28079014/predicting-cognitive-decline-across-four-decades-in-mutation-carriers-and-non-carriers-in-autosomal-dominant-alzheimer-s-disease
#6
Ove Almkvist, Elena Rodriguez-Vieitez, Steinunn Thordardottir, Kaarina Amberla, Karin Axelman, Hans Basun, Anne Kinhult-Ståhlbom, Lena Lilius, Anne Remes, Lars-Olof Wahlund, Matti Viitanen, Lars Lannfelt, Caroline Graff
OBJECTIVES: The aim of this study was to investigate cognitive performance including preclinical and clinical disease course in carriers and non-carriers of autosomal-dominant Alzheimer's disease (adAD) in relation to multiple predictors, that is, linear and non-linear estimates of years to expected clinical onset of disease, years of education and age. METHODS: Participants from five families with early-onset autosomal-dominant mutations (Swedish and Arctic APP, PSEN1 M146V, H163Y, and I143T) included 35 carriers (28 without dementia and 7 with) and 44 non-carriers...
January 12, 2017: Journal of the International Neuropsychological Society: JINS
https://www.readbyqxmd.com/read/28074613/health-benefits-of-methylxanthines-in-neurodegenerative-diseases
#7
REVIEW
Ainhoa Oñatibia-Astibia, Rafael Franco, Eva Martínez-Pinilla
Methylxanthines (MTXs) are consumed by almost everybody in almost every area of the world. Caffeine, theophylline and theobromine are the most well-known members of this family of compounds; they are present, inter alia, in coffee, tea, cacao, yerba mate and cola drinks. MTXs are readily absorbed in the gastrointestinal tract and are able to penetrate into the central nervous system, where they exert significant psychostimulant actions, which are more evident in acute intake. Coffee has been paradigmatic, as its use was forbidden in many diseases, however, this negative view has radically changed; evidence shows that methylxanthines display health benefits in diseases involving cell death in the nervous system...
January 11, 2017: Molecular Nutrition & Food Research
https://www.readbyqxmd.com/read/28069993/development-and-validation-of-the-alzheimer-s-prevention-beliefs-measure-in-a-multi-ethnic-cohort-a-behavioral-theory-approach
#8
Alon Seifan, Christine A Ganzer, Francoise Vermeylen, Stephen Parry, Jifeng Zhu, Abigail Lyons, Richard Isaacson, Sarang Kim
BACKGROUND: Understanding health beliefs and how they influence willingness will enable the development of targeted curricula that maximize public engagement in Alzheimer's disease (AD) risk reduction behaviors. METHODS: Literature on behavioral theory and community input was used to develop and validate a health beliefs survey about AD risk reduction among 428 community-dwelling adults. Principal component analysis was performed to assess internal consistency. Linear regression was performed to identify key predictors of Willingness to engage in AD risk reduction behaviors...
January 9, 2017: Journal of Public Health
https://www.readbyqxmd.com/read/28069311/investigating-the-role-of-als-genes-chchd10-and-tuba4a-in-belgian-ftd-als-spectrum-patients
#9
Federica Perrone, Hung Phuoc Nguyen, Sara Van Mossevelde, Matthieu Moisse, Anne Sieben, Patrick Santens, Jan De Bleecker, Mathieu Vandenbulcke, Sebastiaan Engelborghs, Jonathan Baets, Patrick Cras, Rik Vandenberghe, Peter De Jonghe, Peter P De Deyn, Jean-Jacques Martin, Philip Van Damme, Christine Van Broeckhoven, Julie van der Zee
Mutation screening and phenotypic profiling of 2 amyotrophic lateral sclerosis-(ALS) and frontotemporal dementia-(FTD) associated genes, CHCHD10 and TUBA4A, were performed in a Belgian cohort of 459 FTD, 28 FTD-ALS, and 429 ALS patients. In CHCHD10, we identified a novel nonsense mutation (p.Gln108*) in a patient with atypical clinical FTD and pathology-confirmed Parkinson's disease (1/459, 0.22%) leading to loss of transcript. We further observed 3 previously described missense variants (p.Pro34Ser, p.Pro80Leu, and p...
December 21, 2016: Neurobiology of Aging
https://www.readbyqxmd.com/read/28065470/the-rare-variant-generalized-disequilibrium-test-for-association-analysis-of-nuclear-and-extended-pedigrees-with-application-to-alzheimer-disease-wgs-data
#10
Zongxiao He, Di Zhang, Alan E Renton, Biao Li, Linhai Zhao, Gao T Wang, Alison M Goate, Richard Mayeux, Suzanne M Leal
Whole-genome and exome sequence data can be cost-effectively generated for the detection of rare-variant (RV) associations in families. Causal variants that aggregate in families usually have larger effect sizes than those found in sporadic cases, so family-based designs can be a more powerful approach than population-based designs. Moreover, some family-based designs are robust to confounding due to population admixture or substructure. We developed a RV extension of the generalized disequilibrium test (GDT) to analyze sequence data obtained from nuclear and extended families...
January 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28065268/enzymatic-assays-for-studying-intramembrane-proteolysis
#11
D M Bolduc, D J Selkoe, M S Wolfe
Proteolysis within the membrane is catalyzed by a diverse family of proteases immersed within the hydrophobic environment of cellular membranes. These ubiquitous intramembrane-cleaving proteases (I-CLiPs) hydrolyze the transmembrane domains of a large variety of membrane-embedded proteins to facilitate signaling events essential to normal biological functions found in all forms of life. The importance of this unique class of enzyme is highlighted by its central involvement in a variety of human pathologies, including Alzheimer's disease (AD), Parkinson's disease, cancer, and the virulence of a number of viral, bacterial, and fungal pathogens...
2017: Methods in Enzymology
https://www.readbyqxmd.com/read/28059793/resveratrol-intervenes-in-the-cholesterol-and-isoprenoid-mediated-amyloidogenic-processing-of-a%C3%AE-pp-in-familial-alzheimer-s-disease
#12
Mohan Sathya, Ponnusamy Moorthi, Palanisamy Premkumar, Mahesh Kandasamy, Kesavan Swaminathan Jayachandran, Muthuswamy Anusuyadevi
Deterioration of cholesterol metabolism has recently been a frontier subject of investigation in the field of Alzheimer's disease (AD). Though amyloid-β protein precursor (AβPP) primes the pathological cascade, changes in cholesterol levels and its intermediates, geranyl geranyl pyrophosphate and farnesyl pyrophosphate, is expected to have a different consequence on AβPP processing and amyloid-β (Aβ) generation. However, the use of statins (HMG-COA reductase inhibitor) has been widely implicated in slowing down the pathogenic progression of AD, while the epidemiological reports on its biological effect remains controversial...
December 3, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28057414/apoe-apoe-receptors-and-the-synapse-in-alzheimer-s-disease
#13
REVIEW
Courtney Lane-Donovan, Joachim Herz
As the population ages, neurodegenerative diseases such as Alzheimer's disease (AD) are becoming a significant burden on patients, their families, and health-care systems. Neurodegenerative processes may start up to 15 years before outward signs and symptoms of AD, as evidenced by data from AD patients and mouse models. A major genetic risk factor for late-onset AD is the ɛ4 isoform of apolipoprotein E (ApoE4), which is present in almost 20% of the population. In this review we discuss the contribution of ApoE receptor signaling to the function of each component of the tripartite synapse - the axon terminal, the postsynaptic dendritic spine, and the astrocyte - and examine how these systems fail in the context of ApoE4 and AD...
January 2, 2017: Trends in Endocrinology and Metabolism: TEM
https://www.readbyqxmd.com/read/28054745/the-discovery-of-alzheimer-causing-mutations-in-the-app-gene-and-the-formulation-of-the-amyloid-cascade-hypothesis
#14
REVIEW
John Hardy
The cloning of APP and genetic analysis of families with Alzheimer's disease were both reported in 1987 and much present work on the disease is based upon the foundations laid at that time. Progress was not smooth however, and many errors were made. In this memoir, I lay out both the progress and the errors. This article is protected by copyright. All rights reserved.
January 5, 2017: FEBS Journal
https://www.readbyqxmd.com/read/28054501/modulation-in-the-conformational-and-stability-attributes-of-the-alzheimer-s-disease-associated-amyloid-beta-mutants-and-their-favorable-stabilization-by-curcumin-molecular-dynamics-simulation-analysis
#15
Manika Awasthi, Swati Singh, Veda P Pandey, Upendra N Dwivedi
Alzheimer's disease (AD) is a neurodegenerative disorder characterized by progressive accumulation of amyloid-beta (Aβ) peptides in brain. In the present study, two familial Aβ42 mutations, namely A2V (harmful) and A2T (protective) have been analyzed and compared with the wild-type (WT) by performing all-atom molecular dynamics (MD) simulations in the absence and presence of curcumin, a well known inhibitor of Aβ plaque formation. Mutant A2V was found to exhibit highest stability followed by WT and mutant A2T in the absence of curcumin...
January 5, 2017: Journal of Biomolecular Structure & Dynamics
https://www.readbyqxmd.com/read/28053144/excess-app-o-glycosylation-by-galnac-t6-decreases-a%C3%AE-production
#16
Keiko Akasaka-Manya, Masaki Kawamura, Hiroki Tsumoto, Yuko Saito, Yuriko Tachida, Shinobu Kitazume, Hiroyuki Hatsuta, Yuri Miura, Shin-Ichi Hisanaga, Shigeo Murayama, Yasuhiro Hashimoto, Hiroshi Manya, Tamao Endo
Alterations of the structure and/or amount of glycans present on proteins are associated with many diseases. We previously demonstrated that changes in N-glycans alter Aβ production. In the present study, we focused on the relationship between Alzheimer's disease (AD) and O-glycan, another type of glycan. The UDP-N-acetylgalactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family functions in the first step of mucin-type O-glycan synthesis. Analysis of the expression of GalNAc-Ts in the human brain using real-time PCR revealed that the expression of several GalNAc-Ts was altered with sporadic AD progression...
January 2017: Journal of Biochemistry
https://www.readbyqxmd.com/read/28049883/neuron-specific-splicing
#17
Nor Hakimah Ab Hakim, Burhanuddin Yeop Majlis, Hitoshi Suzuki, Toshifumi Tsukahara
During pre-mRNA splicing events, introns are removed from the pre-mRNA, and the remaining exons are connected together to form a single continuous molecule. Alternative splicing is a common mechanism for the regulation of gene expression in eukaryotes. More than 90% of human genes are known to undergo alternative splicing. The most common type of alternative splicing is exon skipping, which is also known as cassette exon. Other known alternative splicing events include alternative 5' splice sites, alternative 3' splice sites, intron retention, and mutually exclusive exons...
December 31, 2016: Bioscience Trends
https://www.readbyqxmd.com/read/28049728/familial-alzheimer-s-disease-mutations-within-the-amyloid-precursor-protein-alter-the-aggregation-and-conformation-of-the-amyloid-beta-peptide
#18
Asa Hatami, Sanaz Monjazeb, Saskia Milton, Charles G Glabe
Most cases of Alzheimer's disease (AD) are sporadic, while a small percentage of AD cases, called familial AD (FAD), are associated with mutations in presinilins 1 and 2 and the amyloid precursor protein (APP). APP mutations falling within the Aβ sequence lead to a wide range of disease phenotypes. There is increasing evidence that distinct amyloid structures distinguished by amyloid conformation-dependent monoclonal antibodies have varying roles in pathology. It is possible that the phenotypic diversity of FAD associated with mutations within the Aβ sequence is due to differences in the conformations adopted by mutant Aβ peptides...
January 3, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28049142/danger-associated-molecular-patterns-in-alzheimer-s-disease
#19
REVIEW
Carmen Venegas, Michael T Heneka
Pathogen-associated molecular patterns (PAMPs) and endogenous "danger" signals, known as danger-associated molecular patterns (DAMPs), released from cells alert the innate immune system and activate several signal transduction pathways through interactions with the highly conserved pattern recognition receptors (PRRs). Both PAMPs and DAMPs directly induce proinflammatory cascades and trigger the formation of the inflammasome, mediating the release of cytokines. Here, we highlight the role of DAMPs, including amyloid β (Aβ), high-mobility group box 1 (HMGB1), the S100 family proteins, chromogranin A, and nucleic acids, in the innate-immune activation during the course of Alzheimer disease (AD), the most frequent neurodegenerative disorder...
January 2017: Journal of Leukocyte Biology
https://www.readbyqxmd.com/read/28042772/factors-of-rapid-cognitive-decline-in-late-onset-alzheimer-s-disease
#20
Pierre Koskas, Mariela Cecile Henry-Feugeas, Jean Paul Feugeas, Phalla Ou, Olivier Drunat
BACKGROUND: Rapid Cognitive Decline (RCD) in Alzheimer Disease (AD) is associated with a worse disease progression. There is no consensual predictor of RCD and only a few studies have focused on RCD in late-onset dementia, the most common form of AD Objective: To identify the predictors of RCD, in a population of community-dwelling patients with recently diagnosed late onset AD Methods: Community-dwelling subjects aged>75 consulting for the first time in Old Age Memory outpatient center from 2009 to 2012 were considered...
January 2, 2017: Current Aging Science
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