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Epigenetics pathology

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https://www.readbyqxmd.com/read/28092081/epigenetics-in-alzheimer-s-disease-perspective-of-dna-methylation
#1
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/28090287/transcription-factors-transcriptional-coregulators-and-epigenetic-modulation-in-the-control-of-pulmonary-vascular-cell-phenotype-therapeutic-implications-for-pulmonary-hypertension-2015-grover-conference-series
#2
REVIEW
Soni S Pullamsetti, Frédéric Perros, Prakash Chelladurai, Jason Yuan, Kurt Stenmark
Pulmonary hypertension (PH) is a complex and multifactorial disease involving genetic, epigenetic, and environmental factors. Numerous stimuli and pathological conditions facilitate severe vascular remodeling in PH by activation of a complex cascade of signaling pathways involving vascular cell proliferation, differentiation, and inflammation. Multiple signaling cascades modulate the activity of certain sequence-specific DNA-binding transcription factors (TFs) and coregulators that are critical for the transcriptional regulation of gene expression that facilitates PH-associated vascular cell phenotypes, as demonstrated by several studies summarized in this review...
December 2016: Pulmonary Circulation
https://www.readbyqxmd.com/read/28089213/a-genome-wide-profiling-of-brain-dna-hydroxymethylation-in-alzheimer-s-disease
#3
Jinying Zhao, Yun Zhu, Jingyun Yang, Lin Li, Hao Wu, Philip L De Jager, Peng Jin, David A Bennett
INTRODUCTION: DNA methylation is a key epigenetic mechanism in brain aging and Alzheimer's disease (AD). The newly discovered 5-hydroxymethylcytosine mediates DNA demethylation, is highly abundant in the brain, and is dynamically regulated by life experiences. However, little is known about its genome-wide patterns and potential role in AD. METHODS: Using a genome-wide capture followed by high-throughput sequencing, we studied the genome-wide distribution of 5-hydroxymethylcytosine at specific genomic loci in human AD brain and identified differentially hydroxymethylated regions (DhMRs) associated with AD pathology...
January 6, 2017: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
https://www.readbyqxmd.com/read/28078993/mirnas-new-biomarkers-and-therapeutic-targets-in-dementia
#4
Ana Teresa de Bastos Viegas, Joana Ribeiro Guedes, Ana Rafaela Oliveira, Ana Maria Sequeira Cardoso, Ana Luísa Colaço Cardoso
BACKGROUND: Dementia is a complex pathological state that affects millions of individuals worldwide and is responsible for a huge socioeconomic burden, making it a major health concern of current times. Given the impact of dementia in both patients and caregivers, it is crucial to fully clarify the molecular mechanisms underlying dementia-associated disorders, since without this knowledge our ability to correctly diagnose and treat these diseases is severely hampered. METHODS: Epigenetic mechanisms, such as miRNA-mediated post-transcriptional regulation, have been reported to play a role in dementia pathogenesis...
January 10, 2017: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/28078123/diminished-expression-of-mgmt-rassf1a-genes-in-gastric-cancer-in-ethnic-population-of-kashmir
#5
Arif Akbar Bhat, Hilal Ahmad Wani, Ajaz Ahmad Waza, Rawoof Ahmad Malik, Akbar Masood, Showkat Jeelani, Showkat Kadla, Sabhiya Majid
BACKGROUND: Cancer initiation and progression are accompanied by profound changes in DNA. DNA methylation that was the first epigenetic alterations identified in cancer. DNA hypermethylation at promoter sites is closely associated with down regulation of protein and as major participant in the development and progression of series of human tumors. Therefore we hypothesized that promoter hypermethylation of RASSF1A & MGMT gene could influence susceptibility to gastric cancer (GC) as well, and we conducted this study to test the hypothesis in Kashmiri population...
December 2016: Journal of Gastrointestinal Oncology
https://www.readbyqxmd.com/read/28074555/pediatric-stress-from-neuroendocrinology-to-contemporary-disorders
#6
REVIEW
Stavroula Stavrou, Nicolas C Nicolaides, Elena Critselis, Christina Darviri, Evangelia Charmandari, George P Chrousos
BACKGROUND: Stress is defined as a state of threatened or perceived as threatened homeostasis. A broad spectrum of extrinsic or intrinsic, real or perceived stressful stimuli, called "stressors", activates a highly conserved system, the "stress system", which adjusts homeostasis through central and peripheral neuroendocrine responses. Inadequate, excessive or prolonged adaptive responses to stress may underlie the pathogenesis of several disease states prevalent in modern societies. The development and severity of these conditions primarily depend on the genetic vulnerability of the individual, the exposure to adverse environmental factors and the timing of the stressful event(s), given that prenatal life, infancy, childhood and adolescence are critical periods characterized by increased vulnerability to stressors...
January 11, 2017: European Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28068482/metabolic-reprogramming-in-brain-tumors
#7
Sriram Venneti, Craig B Thompson
Next-generation sequencing has substantially enhanced our understanding of the genetics of primary brain tumors by uncovering several novel driver genetic alterations. How many of these genetic modifications contribute to the pathogenesis of brain tumors is not well understood. An exciting paradigm emerging in cancer biology is that oncogenes actively reprogram cellular metabolism to enable tumors to survive and proliferate. We discuss how some of these genetic alterations in brain tumors rewire metabolism...
December 21, 2016: Annual Review of Pathology
https://www.readbyqxmd.com/read/28060197/identical-twins-discordant-for-metopic-craniosynostosis-evidence-of-epigenetic-influences
#8
Suresh N Magge, Kendall Snyder, Aparna Sajja, Tiffani A DeFreitas, Sean E Hofherr, Richard E Broth, Robert F Keating, Gary F Rogers
Craniosynostosis, or premature fusion of the cranial sutures, occurs in approximately 1 in 2500 live births. The genetic causes and molecular basis of these disorders have greatly expanded over the last 2 decades, with numerous causative and contributory mutations having been identified. The role of fibroblast growth factor receptor (FGFR) mutations in the etiology of certain eponymous forms of craniosynostosis is now well elucidated; the most common syndromes associated with craniosynostosis are Pfeifer (FGFR1, FGFR2), Apert (FGFR2), Crouzon (FGFR2), Saethre-Chotzen (TWIST1), Jackson-Weiss (FGFR2), Greig (GL13), and Muenke (FGFR3) syndromes...
January 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28054407/from-genetics-to-epigenetics-new-insights-into-keloid-scarring
#9
REVIEW
Yongjing He, Zhenjun Deng, Mansour Alghamdi, Lechun Lu, Mark W Fear, Li He
Keloid scarring is a dermal fibroproliferative response characterized by excessive and progressive deposition of collagen; aetiology and molecular pathology underlying keloid formation and progression remain unclear. Genetic predisposition is important in the pathogenic processes of keloid formation, however, environmental factors and epigenetic mechanisms may also play pivotal roles. Epigenetic modification is a recent area of investigation in understanding the molecular pathogenesis of keloid scarring and there is increasing evidence that epigenetic changes may play a role in induction and persistent activation of fibroblasts in keloid scars...
January 5, 2017: Cell Proliferation
https://www.readbyqxmd.com/read/28045465/methylomic-profiling-of-cortex-samples-from-completed-suicide-cases-implicates-a-role-for-psors1c3-in-major-depression-and-suicide
#10
T M Murphy, B Crawford, E L Dempster, E Hannon, J Burrage, G Turecki, Z Kaminsky, J Mill
Major depressive disorder (MDD) represents a major social and economic health issue and constitutes a major risk factor for suicide. The molecular pathology of suicidal depression remains poorly understood, although it has been hypothesised that regulatory genomic processes are involved in the pathology of both MDD and suicidality. In this study, genome-wide patterns of DNA methylation were assessed in depressed suicide completers (n=20) and compared with non-psychiatric, sudden-death controls (n=20) using tissue from two cortical brain regions (Brodmann Area 11 (BA11) and Brodmann Area 25 (BA25))...
January 3, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28044062/opening-up-the-dna-methylome-of-dementia
#11
R Delgado-Morales, M Esteller
Dementia is a complex clinical condition characterized by several cognitive impairments that interfere with patient independence in executing everyday tasks. Various neurodegenerative disorders have dementia in common among their clinical manifestations. In addition, these diseases, such as Alzheimer's disease, Parkinson's disease, dementia with Lewy bodies and frontotemporal dementia, share molecular alterations at the neuropathological level. In recent years, the field of neuroepigenetics has expanded massively and it is now clear that epigenetic processes, such as DNA methylation, are mechanisms involved in both normal and pathological brain function...
January 3, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28043658/genes-epigenetics-and-mirna-regulation-in-the-placenta
#12
Daniel Vaiman
This text reviews briefly the context in which epigenetics regulate gene expression in trophoblast development and function. It is an attempt to focus on a limited number of recent papers that, according to the author, shed new light on placental development, and constitute possible trails for improving knowledge and women follow-up in pathological pregnancies.
December 25, 2016: Placenta
https://www.readbyqxmd.com/read/28043297/-long-non-coding-rna-and-wound-healing
#13
Y Liu, D W Liu
Long non-coding RNA (lncRNA) is a class of RNA molecules longer than 200 nucleotides which does not encode proteins or only encode a few proteins, and it plays important regulatory roles in the expression of genes at the epigenetic, transcriptional, and posttranscriptional levels. The recent reports suggest that lncRNA plays a significant role in growth and development of body, cellular biological processes including in cell proliferation, differentiation, migration, and apoptosis, and regulation of wound healing processes such as re-epithelialization, angiogenesis, and scar formation...
December 20, 2016: Zhonghua Shao Shang za Zhi, Zhonghua Shaoshang Zazhi, Chinese Journal of Burns
https://www.readbyqxmd.com/read/28042538/rora-and-autism-in-the-isfahan-population-is-there-an-epigenetic-relationship
#14
Mansoor Salehi, Elahe Kamali, Mojgan Karahmadi, Seyyed Mohammad Mousavi
OBJECTIVE: Autism is a neurodevelopmental disorder characterized by difficulty in verbal and non-verbal communication, impaired social interaction, and restricted and repetitive behavior. It has been recently introduced as a multigenic disorder with significant epigenetic effects on its pathology. Recently, epigenetic silencing of retinoic acid receptor- related orphan receptor alpha (RORα) gene (which has an essential role in neural tissue development) was shown to have occurred in autistic children due to methylation of its promoter region...
2017: Cell Journal
https://www.readbyqxmd.com/read/28035377/histone-deacetylases-meet-microrna-associated-mmp-9-expression-regulation-in-glucocorticoid-sensitive-and-resistant-cell-lines
#15
Marwa Hentati-Kallel, Sébastien Le Jan, Philippe Bernard, Frank Antonicelli, Aurélie Trussardi-Régnier
Glucocorticoids are largely used in the treatment of inflammatory pathologies and/or hematological malignancies and regulate the expression of a variety of genes involved in inflammation or metastasis such as matrix metalloproteinases (MMP). Long-term exposure to glucocorticoids can result in failure of responsiveness, which is often associated with an unwanted gene expression. Epigenetic mechanisms are involved in gene expression modulated after development of glucocorticoid resistance but how these mechanisms take place must be further studied...
December 30, 2016: International Journal of Oncology
https://www.readbyqxmd.com/read/28032662/5-hydroxymethylcytosine-is-a-nuclear-biomarker-to-assess-biological-potential-in-histologically-ambiguous-heavily-pigmented-melanocytic-neoplasms
#16
Jonathan J Lee, Ricardo E Vilain, Scott R Granter, Nina R Hu, Scott C Bresler, Shuyun Xu, Alexander H Frank, Martin C Mihm, Robyn P M Saw, Christopher D Fletcher, Richard A Scolyer, George F Murphy, Christine G Lian
BACKGROUND: 5-hydroxymethylcytosine (5-hmC) is an epigenetic marker detectable through immunohistochemistry (IHC) that has been shown to distinguish benign nevi from melanoma with high sensitivity and specificity. The purpose of the study was to explore its diagnostic utility in a subset of histologically challenging, heavily pigmented cutaneous melanocytic neoplasms. METHODS: 5-hmC IHC was performed on 54 heavily pigmented melanocytic tumors. Semi-quantitative analysis of immunoreactivity was correlated with clinical, pathologic, and follow-up data...
December 29, 2016: Journal of Cutaneous Pathology
https://www.readbyqxmd.com/read/28031014/cebp-epigenetic-dysregulation-as-a-drug-target-for-the-treatment-of-hematologic-and-gynecologic-malignancies
#17
Chengming Sun, Ping Duan, Caifu Luan
The CCAAT/enhancer binding proteins (C/EBPs) form a family of transcription factors regulating many genes' expression in a variety of cells/tissues/organs at different developmental stages. With their capability of binding to a loosely defined consensus DNA sequence and through extensive protein-protein interactions, C/EBPs modulate diverse functions including cell differentiation, metabolism, and immune response, under both physiological and pathological conditions such as the establishment of hematological lineages, the maintenance of normal reproductive function, and the development of malignant disease...
December 28, 2016: Current Drug Targets
https://www.readbyqxmd.com/read/28029651/the-pseudogene-duxap10-promotes-an-aggressive-phenotype-through-binding-with-lsd1-and-repressing-lats2-and-rrad-in-non-small-cell-lung-cancer
#18
Chen-Chen Wei, Feng-Qi Nie, Li-Li Jiang, Qin-Nan Chen, Zhen-Yao Chen, Xin Chen, Xuan Pan, Zhi-Li Liu, Bin-Bin Lu, Zhao-Xia Wang
Pseudogenes have been considered as non-functional transcriptional relics of human genomic for long time. However, recent studies revealed that they play a plethora of roles in diverse physiological and pathological processes, especially in cancer, and many pseudogenes are transcribed into long noncoding RNAs and emerging as a novel class of lncRNAs. However, the biological roles and underlying mechanism of pseudogenes in the pathogenesis of non small cell lung cancer are still incompletely elucidated. This study identifies a putative oncogenic pseudogene DUXAP10 in NSCLC, which is located in 14q11...
December 23, 2016: Oncotarget
https://www.readbyqxmd.com/read/28025083/g-quadruplexes-in-human-promoters-a-challenge-for-therapeutic-applications
#19
REVIEW
Riccardo Rigo, Manlio Palumbo, Claudia Sissi
BACKGROUND: G-rich sequences undergo unique structural equilibria to form G-quadruplexes (G4) both in vitro and in cell systems. Several pathologies emerged to be directly related to G4 occurrence at defined genomic portions. Additionally, G-rich sequences are significantly represented around transcription start sites (TSS) thus leading to the hypothesis of a gene regulatory function for G4. Thus, the tuning of G4 formation has been proposed as a new powerful tool to regulate gene expression to treat related pathologies...
December 23, 2016: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28019723/therapeutical-potential-of-deregulated-lysine-methyltransferase-smyd3-as-a-safe-target-for-novel-anticancer-agents
#20
Gurukumari Rajajeyabalachandran, Swetha Kumar, Thanabal Murugesan, Shanthi Ekambaram, Ramya Padmavathy, Sooriya Kumar Jegatheesan, Ramesh Mullangi, Sriram Rajagopal
SET and MYND domain containing-3 (SMYD3) is a member of the lysine methyltransferase family of proteins, and plays an important role in the methylation of various histone and non-histone targets. Proper functioning of SMYD3 is very important for the target molecules to determine their different roles in chromatin remodeling, signal transduction and cell cycle control. Due to the abnormal expression of SMYD3 in tumors, it is projected as a prognostic marker in various solid cancers. Areas covered: Here we elaborate on the general information, structure and the pathological role of SMYD3 protein...
December 26, 2016: Expert Opinion on Therapeutic Targets
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