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Familial Alzheimer's disease

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https://www.readbyqxmd.com/read/29329714/mutation-burden-profile-in-familial-alzheimer-s-disease-cases-from-india
#1
Adhikarla Syama, Somdatta Sen, Lakshmi Narayanan Kota, Biju Viswanath, Meera Purushottam, Mathew Varghese, Sanjeev Jain, Mitradas M Panicker, Odity Mukherjee
This study attempts to identify coding risk variants in genes previously implicated in Alzheimer's disease (AD) pathways, through whole-exome sequencing of subjects (N = 17) with AD, with a positive family history of dementia (familial AD). We attempted to evaluate the mutation burden in genes encoding amyloid precursor protein metabolism and previously linked to risk of dementias. Novel variants were identified in genes involved in amyloid precursor protein metabolism such as PSEN1 (chr 14:73653575, W161C, tgg > tgT), PLAT (chr 8:42039530,G272R), and SORL1 (chr11:121414373,G601D)...
December 12, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/29325565/impact-of-social-relationships-on-alzheimer-s-memory-impairment-mechanistic-studies
#2
REVIEW
Ya-Hsin Hsiao, Chih-Hua Chang, Po-Wu Gean
Alzheimer's disease (AD) is characterized by progressive memory and neuronal loss culminating in cognitive impairment that not only affects a person's living ability but also becomes a society's as well as a family's economic burden. AD is the most common form of dementia in older persons. It is expected that the number of people with AD dementia will increase dramatically in the next 30 years, projecting to 75 million in 2030 and 131.5 million in 2050 worldwide. So far, no sufficient evidence is available to support that any medicine is able to prevent or reverse the progression of the disease...
January 11, 2018: Journal of Biomedical Science
https://www.readbyqxmd.com/read/29319907/aberrant-accumulation-of-erbb4-in-progressive-supranuclear-palsy
#3
Aya Murakami, Masataka Nakamura, Satoshi Kaneko, Wen-Lang Lin, Dennis W Dickson, Hirofumi Kusaka
The human epidermal growth factor receptor family consists of 4 members that belong to the ErbB lineage of proteins (ErbB1-4). Neuregulin-1 (NRG1)/ErbB signalling regulates brain development and function. Abnormalities in this signalling have been implicated in the aetiology or development of neurodegenerative diseases such as Alzheimer's disease, Parkinson's disease, and amyotrophic lateral sclerosis. So, we aimed at investigating whether the expression of NRG1 or ErbB proteins are altered in progressive supranuclear palsy (PSP) METHODS: The brains of 10 PSP and 6 control patients were investigated by immunohistochemical analysis RESULTS: Whereas C-terminal ErbB4 immunoreacitivity was partially but distinctly present in the cytoplasm and/or in the nucleus of neurons in control patients, it was rarely observed in the neuronal nuclei in PSP patients...
January 10, 2018: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/29317809/best-strategies-to-recruit-and-enroll-elderly-blacks-into-clinical-and-biomedical-research
#4
Lennox A Graham, Julius Ngwa, Oyonumo Ntekim, Oludolapo Ogunlana, Saba Wolday, Steven Johnson, Megan Johnson, Chimene Castor, Thomas V Fungwe, Thomas O Obisesan
Background: Historically, Blacks have been disproportionately underrepresented in clinical trials. Outcomes associated with low Blacks' participation in research include poor understanding of the predictors and treatment of the disease, increasing health disparities, poor health equity, and suboptimal wellness of the nation as a whole. To address this gap in research participation, we analyzed our recruitment data to identify the most effective strategies for enrolling older Blacks in clinical trials...
2018: Clinical Interventions in Aging
https://www.readbyqxmd.com/read/29316780/psen1-p-met233val-in-a-complex-neurodegenerative-movement-and-neuropsychiatric-disorder
#5
Silke Appel-Cresswell, Ilaria Guella, Anna Lehman, Dean Foti, Matthew J Farrer
Mutations in presenilin 1 (PSEN1) are the most common cause of autosomal dominant Alzheimer's disease. Here, we report a Canadian-Vietnamese family carrying a PSEN1 p.Met233Val mutation with an exceptionally early and severe presentation that includes a wide range of atypical symptoms, including prominent ataxia, Parkinsonism, spasticity, dystonia, action tremor, myoclonus, bulbar symptoms, seizures, hallucinations and behavioral changes. Whole-exome sequencing (WES) was performed on the affected proband after many assessments over several years proved diagnostically inconclusive...
January 11, 2018: Journal of Movement Disorders
https://www.readbyqxmd.com/read/29311311/structural-heterogeneity-and-intersubject-variability-of-a%C3%AE-in-familial-and-sporadic-alzheimer-s-disease
#6
Carlo Condello, Thomas Lemmin, Jan Stöhr, Mimi Nick, Yibing Wu, Alison M Maxwell, Joel C Watts, Christoffer D Caro, Abby Oehler, C Dirk Keene, Thomas D Bird, Sjoerd G van Duinen, Lars Lannfelt, Martin Ingelsson, Caroline Graff, Kurt Giles, William F DeGrado, Stanley B Prusiner
Point mutations in the amyloid-β (Aβ) coding region produce a combination of mutant and WT Aβ isoforms that yield unique clinicopathologies in familial Alzheimer's disease (fAD) and cerebral amyloid angiopathy (fCAA) patients. Here, we report a method to investigate the structural variability of amyloid deposits found in fAD, fCAA, and sporadic AD (sAD). Using this approach, we demonstrate that mutant Aβ determines WT Aβ conformation through prion template-directed misfolding. Using principal component analysis of multiple structure-sensitive fluorescent amyloid-binding dyes, we assessed the conformational variability of Aβ deposits in fAD, fCAA, and sAD patients...
January 8, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29306768/desire-to-institutionalize-in-alzheimer-s-caregivers-an-empirical-analysis-on-italian-data
#7
Luisa Colucci, Ivana Molino, Francesco Amenta, Giuseppe Lucio Gaeta
OBJECTIVE: Families choice to institutionalize an Alzheimer's disease (AD)-affected relative is hard and possibly painful. Recent literature contributions have investigated the causes of the emergence of desire to institutionalize (DI) who is affected by AD. This paper contributes to the topic by providing an Italy-based empirical analysis of factors correlated with DI in primary informal caregivers of patients affected by AD. METHODS: Data were drawn from an original survey carried out over 2009...
December 30, 2017: Archives of Gerontology and Geriatrics
https://www.readbyqxmd.com/read/29305061/a-refined-concept-alpha-synuclein-dysregulation-disease
#8
REVIEW
Hideki Mochizuki, Chi-Jing Choong, Eliezer Masliah
Alpha synuclein (αSyn) still remains a mysterious protein even two decades after SNCA encoding it was identified as the first causative gene of familial Parkinson's disease (PD). Accumulation of αSyn causes α-synucleinopathies including PD, dementia with Lewy bodies (DLB) and multiple system atrophy (MSA). Recent advances in therapeutic approaches offer new antibody-, vaccine-, antisense-oligonucleotide- and small molecule-based options to reduce αSyn protein levels and aggregates in patient's brain. Gathering research information of other neurological disease particularly Alzheimer's disease, recent disappointment of an experimental amyloid plaques busting antibody in clinical trials underscores the difficulty of treating people who show even mild dementia as damage in their brain may already be too extensive...
January 2, 2018: Neurochemistry International
https://www.readbyqxmd.com/read/29304203/primary-caregivers-in-a-network-context
#9
Christopher Steven Marcum, Sato Ashida, Laura M Koehly
Objectives: Caregiving to individuals affected by Alzheimer's disease and related dementia (ADRD) is a family-systems process where tasks are distributed between multiple caregivers in a network. We evaluate the extent to which multiple network members nominate one another as filling primary caregiver (PCG) roles and factors associated with nomination. Method: Data come from the Caregiving Roles and Expectations Networks project, which aimed to characterize the caregiving networks of families affected by ADRD...
January 3, 2018: Journals of Gerontology. Series B, Psychological Sciences and Social Sciences
https://www.readbyqxmd.com/read/29301548/inhibition-of-cyclin-dependent-kinase-5-affects-early-neuroinflammatory-signalling-in-murine-model-of-amyloid-beta-toxicity
#10
Anna Wilkaniec, Magdalena Gąssowska-Dobrowolska, Marcin Strawski, Agata Adamczyk, Grzegorz A Czapski
BACKGROUND: Cyclin-dependent kinase 5 (Cdk5) belongs to the family of proline-directed serine/threonine kinases and plays a critical role in neuronal differentiation, migration, synaptogenesis, plasticity, neurotransmission and apoptosis. The deregulation of Cdk5 activity was observed in post mortem analysis of brain tissue of Alzheimer's disease (AD) patients, suggesting the involvement of Cdk5 in the pathomechanism of this neurodegenerative disease. However, our recent study demonstrated the important function of Cdk5 in regulating inflammatory reaction...
January 4, 2018: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/29298892/hspb1-and-hsc70-chaperones-engage-distinct-tau-species-and-have-different-inhibitory-effects-on-amyloid-formation
#11
Hannah E R Baughman, Amanda F Clouser, Rachel E Klevit, Abhinav Nath
The microtubule-associated protein tau forms insoluble, amyloid-type aggregates in various dementias, most notably Alzheimer's disease. Cellular chaperone proteins play important roles in maintaining protein solubility and preventing aggregation in the crowded cellular environment. While tau is known to interact with numerous chaperones, it remains unclear how these chaperones function mechanistically to prevent tau aggregation and how chaperones from different classes compare in terms of mechanism. Here, we focused on the small heat shock protein HspB1 and the constitutive chaperone Hsc70 (also known as HspA8), and report how each chaperone interacts with tau to prevent its fibril formation...
January 3, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29298040/functionalization-and-characterization-of-magnetic-nanoparticles-for-the-detection-of-ferritin-accumulation-in-alzheimer-s-disease
#12
Tamara Fernández, Alberto Martínez-Serrano, Lorena Cussó, Manuel Desco, Milagros Ramos-Gómez
Early diagnosis in Alzheimer's disease (AD), prior to the appearance of marked clinical symptoms, is critical to prevent irreversible neuronal damage and neural malfunction that leads to dementia and death. Therefore, there is an urgent need to generate new contrast agents which reveal by a non-invasive method the presence of some of the pathological signs of AD. In the present study we demonstrate for the first time a new nanoconjugate composed of magnetic nanoparticles bound to an anti-ferritin antibody, which has been developed based on the existence of iron deposits and high levels of the ferritin protein present in areas with a high accumulation of amyloid plaques (particularly the subiculum in the hippocampal area) in the brain of a transgenic mouse model with five familial AD mutations...
January 3, 2018: ACS Chemical Neuroscience
https://www.readbyqxmd.com/read/29287687/an-overview-of-the-possible-therapeutic-role-of-sumoylation-in-the-treatment-of-alzheimer-s-disease
#13
REVIEW
S Marcelli, E Ficulle, L Piccolo, M Corbo, M Feligioni
Nowadays, Alzheimer's disease (AD) is recognized as a multifactorial neurological pathology whose complexity is the cause of our still low achievements in the understanding of the associated mechanisms as well the discovery of a possible definitive cure. Clinicians are aware of the few possibilities offered by medicine to cure Alzheimer's patients, restore their memory and take them back to normal life. Unfortunately, the therapeutic tools available today are not able to contrast the pathology. In the last years the tendency of the research is to formulate new hypotheses that can help to develop future effective drugs...
December 26, 2017: Pharmacological Research: the Official Journal of the Italian Pharmacological Society
https://www.readbyqxmd.com/read/29285117/increased-expression-of-myc-interacting-zinc-finger-protein-1-in-app-ps1-mice
#14
Lu Liu, Yu-Jie Lai, Li-Ge Zhao, Guo-Jun Chen
Myc-interacting zinc-finger protein 1 (Miz1) is a member of the poxvirus and zinc-finger domain/zinc finger transcription factor family. Its transcription activation and repression functions in the nucleus are well elucidated; however its cytoplasmic inflammation function is poorly understood and may be associated with the pathogenesis of Alzheimer's disease (AD). The aim of the present study was to investigate the association between AD and Miz1 expression. In the present study, the expression and distribution of Miz1 in wild-type (WT) and amyloid precursor protein/presenelin-1 (AD) mice was studied using reverse transcription-quantitative polymerase chain reaction, western blot analysis, and immunohistochemical and immunofluorescence staining...
December 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29282330/whole-genome-sequence-analyses-of-brain-imaging-measures-in-the-framingham-study
#15
Chloé Sarnowski, Claudia L Satizabal, Charles DeCarli, Achilleas N Pitsillides, L Adrienne Cupples, Ramachandran S Vasan, James G Wilson, Joshua C Bis, Myriam Fornage, Alexa S Beiser, Anita L DeStefano, Josée Dupuis, Sudha Seshadri
OBJECTIVE: We sought to identify rare variants influencing brain imaging phenotypes in the Framingham Heart Study by performing whole genome sequence association analyses within the Trans-Omics for Precision Medicine Program. METHODS: We performed association analyses of cerebral and hippocampal volumes and white matter hyperintensity (WMH) in up to 2,180 individuals by testing the association of rank-normalized residuals from mixed-effect linear regression models adjusted for sex, age, and total intracranial volume with individual variants while accounting for familial relatedness...
December 27, 2017: Neurology
https://www.readbyqxmd.com/read/29281977/n-n-disubstituted-azines-attenuate-lps-mediated-neuroinflammation-in-microglia-and-neuronal-apoptosis-via-inhibiting-mapk-signaling-pathways
#16
Lalita Subedi, Oh Wook Kwon, Chaeho Pak, Goeun Lee, Kangwoo Lee, Hakwon Kim, Sun Yeou Kim
BACKGROUND: Activated microglia interact with astrocytes and neuronal cells to induce neuroinflammation, which can contribute to the pathogenesis and progression of Alzheimer's and Parkinson's disease. To identify the most effective anti-neuroinflammatory agent, we designed and synthesized a family of 13 new azine derivatives and investigated their anti-neuroinflammatory activities in LPS-activated BV-2 microglial cells. RESULTS: Out of 13 derivatives, compound 3 [4,4'-(1E,1'E,3E,3'E)-3,3'-(hydrazine-1,2-diylidene) bis-(prop-1-ene-1-yl-3-ylidene) bis-(2-methoxyphenol)] exhibited excellent anti-neuroinflammatory activities (IC50 = 12...
December 28, 2017: BMC Neuroscience
https://www.readbyqxmd.com/read/29260852/targeting-the-prion-like-aggregation-of-mutant-p53-to-combat-cancer
#17
Jerson L Silva, Elio A Cino, Iaci N Soares, Vitor F Ferreira, Guilherme A P de Oliveira
Prion-like behavior of several amyloidogenic proteins has been demonstrated in recent years. Despite having functional roles in some cases, irregular aggregation can have devastating consequences. The most commonly known amyloid diseases are Alzheimer's, Parkinson's, and Transmissible Spongiform Encephalopathies (TSEs). The pathophysiology of prion-like diseases involves the structural transformation of wild-type (wt) proteins to transmissible forms that can convert healthy proteins, generating aggregates. The mutant form of tumor suppressor protein, p53, has recently been shown to exhibit prion-like properties...
December 20, 2017: Accounts of Chemical Research
https://www.readbyqxmd.com/read/29259854/microglia-express-abi3-in-the-brains-of-alzheimer-s-disease-and-nasu-hakola-disease
#18
Jun-Ichi Satoh, Yoshihiro Kino, Motoaki Yanaizu, Youhei Tosaki, Kenji Sakai, Tsuyoshi Ishida, Yuko Saito
Nasu-Hakola disease (NHD) is a rare autosomal recessive leukoencephalopathy caused by a loss-of-function mutation of either TYROBP (DAP12) or TREM2 expressed in microglia. A rare variant of the TREM2 gene encoding p.Arg47His causes a 3-fold increase in the risk for late-onset Alzheimer's disease (LOAD). A recent study demonstrated that a rare coding variant p.Ser209Phe in the ABI family member 3 (ABI3) gene, a regulator of actin cytoskeleton organization, confers risk of developing of LOAD, although the pattern of ABI3 expression in AD and NHD brains with relevance to microglial pathology remains to be characterized...
November 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/29258513/systems-healthcare-a-holistic-paradigm-for-tomorrow
#19
REVIEW
Massimo S Fiandaca, Mark Mapstone, Elenora Connors, Mireille Jacobson, Edwin S Monuki, Shaista Malik, Fabio Macciardi, Howard J Federoff
Systems healthcare is a holistic approach to health premised on systems biology and medicine. The approach integrates data from molecules, cells, organs, the individual, families, communities, and the natural and man-made environment. Both extrinsic and intrinsic influences constantly challenge the biological networks associated with wellness. Such influences may dysregulate networks and allow pathobiology to evolve, resulting in early clinical presentation that requires astute assessment and timely intervention for successful mitigation...
December 19, 2017: BMC Systems Biology
https://www.readbyqxmd.com/read/29250170/liver-x-receptors-as-potential-targets-for-cancer-therapeutics
#20
Xiaoli Ju, Pan Huang, Miao Chen, Qiang Wang
Liver X receptors (LXRs) are important members of the nuclear receptor family that were originally determined to function in cholesterol transport and the regulation of immune responses. Synthetic LXR ligands have been developed to treat various diseases including diabetes, Alzheimer's disease and atherosclerosis. Previous studies have suggested that LXRs are also involved in numerous types of cancer and are therefore potential targets for cancer therapeutics. The present review summarizes LXR ligands and their mechanisms of action, the effects of LXRs in different types of cancer and their potential applications in clinical treatment...
December 2017: Oncology Letters
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