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Epigenetics pathology

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https://www.readbyqxmd.com/read/27908606/parp1-orchestrates-epigenetic-events-setting-up-chromatin-domains
#1
REVIEW
Fabio Ciccarone, Michele Zampieri, Paola Caiafa
Epigenetic events include reversible modifications of DNA and histone tails driving higher-order chromatin organization and thus transcription. The epigenetic regulation is a highly integrated process underlying the plasticity of the genomic information both in the context of complex physiological and pathological processes. The global regulatory aspects of epigenetic events are largely unknown. PARylation and PARP1 are recently emerging as multi-level regulatory effectors that modulate the topology of chromatin by orchestrating very different processes...
November 28, 2016: Seminars in Cell & Developmental Biology
https://www.readbyqxmd.com/read/27906075/nuclear-bodies-reorganize-during-myogenesis-in-vitro-and-are-differentially-disrupted-by-expression-of-fshd-associated-dux4
#2
Sachiko Homma, Mary Lou Beermann, Bryant Yu, Frederick M Boyce, Jeffrey Boone Miller
BACKGROUND: Nuclear bodies, such as nucleoli, PML bodies, and SC35 speckles, are dynamic sub-nuclear structures that regulate multiple genetic and epigenetic processes. Additional regulation is provided by RNA/DNA handling proteins, notably TDP-43 and FUS, which have been linked to ALS pathology. Previous work showed that mouse cell line myotubes have fewer but larger nucleoli than myoblasts, and we had found that nuclear aggregation of TDP-43 in human myotubes was induced by expression of DUX4-FL, a transcription factor that is aberrantly expressed and causes pathology in facioscapulohumeral dystrophy (FSHD)...
December 1, 2016: Skeletal Muscle
https://www.readbyqxmd.com/read/27903442/are-micrornas-true-sensors-of-ageing-and-cellular-senescence
#3
REVIEW
Justin Williams, Flint Smith, Subodh Kumar, Murali Vijayan, P Hemachandra Reddy
All living beings are programmed to death due to aging and age-related processes. Aging is a normal process of every living species. While all cells are inevitably progressing towards death, many disease processes accelerate the aging process, leading to senescence. Pathologies such as Alzheimer's disease, Parkinson's disease, multiple sclerosis, amyotrophic lateral sclerosis, Huntington's disease, cardiovascular disease, cancer, and skin diseases have been associated with deregulated aging. Healthy aging can delay onset of all age-related diseases...
November 26, 2016: Ageing Research Reviews
https://www.readbyqxmd.com/read/27900532/mir-148a-the-epigenetic-regulator-of-bone-homeostasis-is-increased-in-plasma-of-osteoporotic-postmenopausal-women
#4
Ajda Bedene, Simona Mencej Bedrač, Lea Ješe, Janja Marc, Peter Vrtačnik, Janez Preželj, Tomaž Kocjan, Tilen Kranjc, Barbara Ostanek
BACKGROUND: Osteoporosis is a prevalent skeletal disorder characterized by reduced bone mineral density and microarchitectural deterioration of bone tissue, resulting in bone fragility and low-trauma fractures. Imaging techniques are routinely used to detect low bone mass; however, they are unable to identify deterioration of bone quality. Recently, microRNAs have emerged as regulators of bone remodelling and potentially also as a new class of sensitive biomarkers of bone health to aid in diagnosis and treatment monitoring of osteoporosis...
November 29, 2016: Wiener Klinische Wochenschrift
https://www.readbyqxmd.com/read/27899960/genetics-and-epigenetics-of-melanoma
#5
Xiao-Ying Zhang, Pei-Ying Zhang
Cancer affects multiple organs in the body Malignant melanoma involves the invasion of skin and occasionally mucosal membrane or eye choroidal tissues. The incidence of cutaneous malignant melanoma is on the increase worldwide and is a major concern in current research. The increase is associated with UV irradiation-induced genetic aberrations that stimulate skin melanocytes to develop unlimited growth. This eventually leads to cell immortality, which in turn causes metastases. The present review examines the genetics and epigenetics of this pathological state together with recent perspectives of the therapeutic management of disease...
November 2016: Oncology Letters
https://www.readbyqxmd.com/read/27899394/stress-activated-kinase-mkk7-governs-epigenetics-of-cardiac-repolarization-for-arrhythmia-prevention
#6
Sanjoy K Chowdhury, Wei Liu, Min Zi, Yatong Li, Shunyao Wang, Hoyee Tsui, Sukhpal Prehar, Simon J Castro, Henggui Zhang, Yong Ji, Xiuqin Zhang, Rui-Ping Xiao, Rongli Zhang, Ming Lei, Lukas Cyganek, Kaomei Guan, Catherine B Millar, Xudong Liao, Mukesh K Jain, Mark R Boyett, Elizabeth J Cartwright, Holly A Shiels, Xin Wang
BACKGROUND: -Ventricular arrhythmia is a leading cause of cardiac mortality. Most antiarrhythmics present paradoxical pro-arrhythmic side effects, culminating in a greater risk of sudden death. METHODS: -We describe a new regulatory mechanism linking mitogen-activated kinase kinase-7 (MKK7) deficiency with increased arrhythmia vulnerability in hypertrophied and failing hearts using mouse models harbouring MKK7 knockout or overexpression. The human relevance of this arrhythmogenic mechanism is evaluated in human induced pluripotent stem cells-derived cardiomyocytes (iPSC-CMs)...
November 29, 2016: Circulation
https://www.readbyqxmd.com/read/27899292/engrampigenetics-epigenetics-of-engram-memory-cells
#7
Cristian Ripoli
For long time, the epidemiology of late-onset sporadic Alzheimer's disease (AD) risk factors has centered on adult life-style. Recent studies have, instead, focused on the role of early life experiences in progression of such disease especially in the context of prenatal and postnatal life. Although no single unfavorable environmental event has been shown to be neither necessary nor sufficient for AD development, it is possible that the sum of several environmentally induced effects, over time from early life, contribute to its pathophysiology through epigenetic mechanisms...
November 26, 2016: Behavioural Brain Research
https://www.readbyqxmd.com/read/27895661/the-genome-conformation-as-an-integrator-of-multi-omic-data-the-example-of-damage-spreading-in-cancer
#8
Fabio Tordini, Marco Aldinucci, Luciano Milanesi, Pietro Liò, Ivan Merelli
Publicly available multi-omic databases, in particular if associated with medical annotations, are rich resources with the potential to lead a rapid transition from high-throughput molecular biology experiments to better clinical outcomes for patients. In this work, we propose a model for multi-omic data integration (i.e., genetic variations, gene expression, genome conformation, and epigenetic patterns), which exploits a multi-layer network approach to analyse, visualize, and obtain insights from such biological information, in order to use achieved results at a macroscopic level...
2016: Frontiers in Genetics
https://www.readbyqxmd.com/read/27895308/epigenetic-inhibition-of-mir-663b-by-long-non-coding-rna-hotair-promotes-pancreatic-cancer-cell-proliferation-via-up-regulation-of-insulin-like-growth-factor-2
#9
Huihua Cai, Yong An, Xuemin Chen, Donglin Sun, Tongbing Chen, Yan Peng, Feng Zhu, Yong Jiang, Xiaozhou He
Pancreatic cancer is one of the most deadly cancers with a poor prognosis. Although microRNAs are involving in the carcinogenesis and development of pancreatic cancer, little information is known regarding the role of miR-663b in pancreatic cancer. In this study, the expression of miR-663b in pancreatic cancer cells was down-regulated by hypermethylation in its putative promoter region, and overexpression of miR-663b repressed cell proliferation, invasion and migration, and induced apoptosis in pancreatic cancer cells...
November 22, 2016: Oncotarget
https://www.readbyqxmd.com/read/27893962/proteopathic-strains-and-the-heterogeneity-of-neurodegenerative-diseases
#10
Lary C Walker
Most age-related neurodegenerative diseases are associated with the misfolding and aberrant accumulation of specific proteins in the nervous system. The proteins self-assemble and spread by a prion-like process of corruptive molecular templating, whereby abnormally folded proteins induce the misfolding and aggregation of like proteins into characteristic lesions. Despite the apparent simplicity of this process at the molecular level, diseases such as Alzheimer's, Parkinson's, Creutzfeldt-Jakob, and others display remarkable phenotypic heterogeneity, both clinically and pathologically...
November 23, 2016: Annual Review of Genetics
https://www.readbyqxmd.com/read/27893464/the-h3k9-dimethyltransferases-ehmt1-2-protect-against-pathological-cardiac-hypertrophy
#11
Bernard Thienpont, Jan Magnus Aronsen, Emma Louise Robinson, Hanneke Okkenhaug, Elena Loche, Arianna Ferrini, Patrick Brien, Kanar Alkass, Antonio Tomasso, Asmita Agrawal, Olaf Bergmann, Ivar Sjaastad, Wolf Reik, Hywel Llewelyn Roderick
Cardiac hypertrophic growth in response to pathological cues is associated with reexpression of fetal genes and decreased cardiac function and is often a precursor to heart failure. In contrast, physiologically induced hypertrophy is adaptive, resulting in improved cardiac function. The processes that selectively induce these hypertrophic states are poorly understood. Here, we have profiled 2 repressive epigenetic marks, H3K9me2 and H3K27me3, which are involved in stable cellular differentiation, specifically in cardiomyocytes from physiologically and pathologically hypertrophied rat hearts, and correlated these marks with their associated transcriptomes...
November 28, 2016: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/27889782/molecular-pathology-a-requirement-for-precision-medicine-in-cancer
#12
Manfred Dietel
The increasing importance of targeting drugs and check-point inhibitors in the treatment of several tumor entities (breast, colon, lung, malignant melanoma, lymphoma, etc.) and the necessity of a companion diagnostic (HER2, (pan)RAS, EGFR, ALK, BRAF, ROS1, MET, PD-L1, etc.) is leading to new challenges for surgical pathology. Since almost all the biomarkers to be specifically detected are tissue based, a precise and reliable diagnostic is absolutely crucial. To meet this challenge surgical pathology has adapted a number of molecular methods (semi-quantitative immunohistochemistry, fluorescence in situ hybridization, PCR and its multiple variants, (pyro/Sanger) sequencing, next generation sequencing (amplicon, whole exome, whole genome), DNA arrays, methylation analyses, etc...
2016: Oncology Research and Treatment
https://www.readbyqxmd.com/read/27889327/epigenetics-in-non-alcoholic-fatty-liver-disease
#13
REVIEW
Jooho Lee, Yuri Kim, Simonetta Friso, Sang-Woon Choi
Non-alcoholic fatty liver disease (NAFLD), a common hepatic disorder ranging from simple steatosis through steatohepatitis to fibrosis and cirrhosis, is an emerging health concern. NAFLD is a pathologic condition characterized by the buildup of extra fat in liver cells that is not caused by alcohol consumption. Excess hepatic fat accumulation results from increased delivery of triglycerides (TG) to the liver or conversion of surplus carbohydrates to TG. Importantly, a subgroup of NAFLD results in hepatocellular injury and inflammation, which is referred to as non-alcoholic steatohepatitis (NASH), and may progress to irreversible cirrhosis and hepatocellular carcinoma (HCC)...
November 23, 2016: Molecular Aspects of Medicine
https://www.readbyqxmd.com/read/27885689/pathogenesis-and-diagnosis-of-placental-disorders-is-related-to-abnormal-methylation-at-promoters-of-placental-vascularization-mediating-genes
#14
Beenish Rahat, Rauf Ahmad Najar, Abid Hamid, Rashmi Bagga, Jyotdeep Kaur
OBJECTIVES: To investigate the role of methylation levels at promoter regions of placental vascularization genes (VEGF, EGFR and c-jun) in pathogenesis and diagnosis of placental disorders. METHODS: We analyzed DNA and histone methylation at promoters of VEGF, EGFR and c-jun via methylation-sensitive high resolution melting and chromatin immunoprecipitation assay in pregnant women with normal pregnancy in first, second and third trimester (n = 30 in each group) and pregnant women with pregnancy complicated with preeclampsia (n = 30) and hydatidiform mole (n = 15)...
November 24, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27884223/local-renin-angiotensin-aldosterone-systems-and-cardiovascular-diseases
#15
REVIEW
Walmor C De Mello
The presence of local renin angiotensin aldosterone systems (RAAS) in the cardiovascular and renal tissues and their influence in cardiovascular and renal diseases are described. The fundamental role of ACE/Ang II/AT1 receptor axis activation as well the counterregulatory role of ACE2/Ang (1-7)/Mas receptor activation on cardiovascular and renal physiology and pathology are emphasized. The presence of a local RAS and its influence on hypertension is discussed, and finally, the hypothesis that epigenetic factors change the RAAS in utero and induce the expression of renin or Ang II inside the cells of the cardiovascular system is presented...
January 2017: Medical Clinics of North America
https://www.readbyqxmd.com/read/27883184/epigenetics-in-reactive-and-reparative-cardiac-fibrogenesis-the-promise-of-epigenetic-therapy
#16
REVIEW
Asish K Ghosh, Rahul Rai, Panagiotis Flevaris, Douglas E Vaughan
Epigenetic changes play a pivotal role in the development of a wide spectrum of human diseases including cardiovascular diseases, cancer, diabetes, and intellectual disabilities. Cardiac fibrogenesis is a common pathophysiological process seen during chronic and stress-induced accelerated cardiac aging. While adequate production of extracellular matrix (ECM) proteins is necessary for post-injury wound healing, excessive synthesis and accumulation of extracellular matrix protein in the stressed or injured hearts causes decreased or loss of lusitropy that leads to cardiac failure...
November 24, 2016: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/27871175/epigenetic-changes-in-neurodegenerative-diseases
#17
REVIEW
Min Jee Kwon, Sunhong Kim, Myeong Hoon Han, Sung Bae Lee
Afflicted neurons in various neurodegenerative diseases generally display diverse and complex pathological features before catastrophic occurrence of massive neuronal loss at the late stages of the diseases. This complex nature of neuronal pathophysiology inevitably implicates systemwide changes in basic cellular activities such as transcriptional controls and signal cascades, and so on, as a cause. Recently, as one of these systemwide cellular changes associated with neurodegenerative diseases, epigenetic changes caused by protein toxicity have begun to be highlighted...
November 30, 2016: Molecules and Cells
https://www.readbyqxmd.com/read/27862318/genome-wide-dna-methylation-analysis-identifies-megf10-as-a-novel-epigenetically-repressed-candidate-tumour-suppressor-gene-in-neuroblastoma
#18
Jessica Charlet, Ayumi Tomari, Anthony R Dallosso, Marianna Szemes, Martina Kaselova, Thomas J Curry, Bader Almutairi, Heather C Etchevers, Carmel McConville, Karim T A Malik, Keith W Brown
Neuroblastoma is a childhood cancer in which many children still have poor outcomes, emphasising the need to better understand its pathogenesis. Despite recent genome-wide mutation analyses, many primary neuroblastomas do not contain recognisable driver mutations, implicating alternate molecular pathologies such as epigenetic alterations. To discover genes that become epigenetically deregulated during neuroblastoma tumorigenesis, we took the novel approach of comparing neuroblastomas to neural crest precursor cells, using genome-wide DNA methylation analysis...
November 15, 2016: Molecular Carcinogenesis
https://www.readbyqxmd.com/read/27852821/meg3-long-noncoding-rna-contributes-to-the-epigenetic-regulation-of-epithelial-mesenchymal-transition-in-lung-cancer-cell-lines
#19
Minoru Terashima, Shoichiro Tange, Akihiko Ishimura, Takeshi Suzuki
Histone methylation is implicated in a number of biological and pathological processes including cancer development. In this study, we investigated the molecular mechanism for the recruitment of Polycomb repressive complex-2 (PRC2) and its accessory component, JARID2, to chromatin, which regulates methylation of lysine 27 of histone H3 (H3K27), during epithelial-mesenchymal transition (EMT) of cancer cells. The expression of MEG3 long noncoding RNA (lncRNA), which could interact with JARID2, was clearly increased during Transforming Growth Factor-beta (TGF-β)-induced EMT of human lung cancer cell lines...
November 16, 2016: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/27852009/treatment-of-cardiovascular-pathology-with-epigenetically-active-agents-focus-on-natural-and-synthetic-inhibitors-of-dna-methylation-and-histone-deacetylation
#20
REVIEW
Dimitry A Chistiakov, Alexander N Orekhov, Yuri V Bobryshev
Cardiovascular disease (CVD) retains a leadership as a major cause of human death worldwide. Although a substantial progress was attained in the development of cardioprotective and vasculoprotective drugs, a search for new efficient therapeutic strategies and promising targets is under way. Modulation of epigenetic CVD mechanisms through administration epigenetically active agents is one of such new approaches. Epigenetic mechanisms involve heritable changes in gene expression that are not linked to the alteration of DNA sequence...
November 9, 2016: International Journal of Cardiology
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