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Clinical Epigenetics

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https://www.readbyqxmd.com/read/28729889/differential-methylation-at-mhc-in-cd4-t-cells-is-associated-with-multiple-sclerosis-independently-of-hla-drb1
#1
Vicki E Maltby, Rodney A Lea, Katherine A Sanders, Nicole White, Miles C Benton, Rodney J Scott, Jeannette Lechner-Scott
BACKGROUND: Although many genetic variants have been associated with multiple sclerosis (MS) risk, they do not explain all the disease risk and there remains uncertainty as to how these variants contribute to disease. DNA methylation is an epigenetic mechanism that can influence gene expression and has the potential to mediate the effects of environmental factors on MS. In a previous study, we found a differentially methylation region (DMR) at MHC HLA-DRB1 that was associated within relapsing-remitting MS (RRMS) patients in CD4(+) T cells...
2017: Clinical Epigenetics
https://www.readbyqxmd.com/read/28725280/single-molecule-quantification-of-5-hydroxymethylcytosine-for-diagnosis-of-blood-and-colon-cancers
#2
Noa Gilat, Tzlil Tabachnik, Amit Shwartz, Tamar Shahal, Dmitry Torchinsky, Yael Michaeli, Gil Nifker, Shahar Zirkin, Yuval Ebenstein
BACKGROUND: The DNA modification 5-hydroxymethylcytosine (5hmC) is now referred to as the sixth base of DNA with evidence of tissue-specific patterns and correlation with gene regulation and expression. This epigenetic mark was recently reported as a potential biomarker for multiple types of cancer, but its application in the clinic is limited by the utility of recent 5hmC quantification assays. We use a recently developed, ultra-sensitive, fluorescence-based single-molecule method for global quantification of 5hmC in genomic DNA...
2017: Clinical Epigenetics
https://www.readbyqxmd.com/read/28702092/pat-h-ms-coupled-with-laser-microdissection-to-study-histone-post-translational-modifications-in-selected-cell-populations-from-pathology-samples
#3
Roberta Noberini, Rémi Longuespée, Cristina Richichi, Giancarlo Pruneri, Mark Kriegsmann, Giuliana Pelicci, Tiziana Bonaldi
BACKGROUND: Aberrations in histone post-translational modifications (hPTMs) have been linked with various pathologies, including cancer, and could not only represent useful biomarkers but also suggest possible targetable epigenetic mechanisms. We have recently developed an approach, termed pathology tissue analysis of histones by mass spectrometry (PAT-H-MS), that allows performing a comprehensive and quantitative analysis of histone PTMs from formalin-fixed paraffin-embedded pathology samples...
2017: Clinical Epigenetics
https://www.readbyqxmd.com/read/28680507/bndf-methylation-in-mothers-and-newborns-is-associated-with-maternal-exposure-to-war-trauma
#4
Darlene A Kertes, Samarth S Bhatt, Hayley S Kamin, David A Hughes, Nicole C Rodney, Connie J Mulligan
BACKGROUND: The BDNF gene codes for brain-derived neurotrophic factor, a growth factor involved in neural development, cell differentiation, and synaptic plasticity. Present in both the brain and periphery, BDNF plays critical roles throughout the body and is essential for placental and fetal development. Rodent studies show that early life stress, including prenatal stress, broadly alters BDNF methylation, with presumed changes in gene expression. No studies have assessed prenatal exposure to maternal traumatic stress and BDNF methylation in humans...
2017: Clinical Epigenetics
https://www.readbyqxmd.com/read/28670349/epigenetic-mechanisms-during-ageing-and-neurogenesis-as-novel-therapeutic-avenues-in-human-brain-disorders
#5
REVIEW
Raúl Delgado-Morales, Roberto Carlos Agís-Balboa, Manel Esteller, María Berdasco
Ageing is the main risk factor for human neurological disorders. Among the diverse molecular pathways that govern ageing, epigenetics can guide age-associated decline in part by regulating gene expression and also through the modulation of genomic instability and high-order chromatin architecture. Epigenetic mechanisms are involved in the regulation of neural differentiation as well as in functional processes related to memory consolidation, learning or cognition during healthy lifespan. On the other side of the coin, many neurodegenerative diseases are associated with epigenetic dysregulation...
2017: Clinical Epigenetics
https://www.readbyqxmd.com/read/28649287/regulating-role-of-fetal-thyroid-hormones-on-placental-mitochondrial-dna-methylation-epidemiological-evidence-from-the-environage-birth-cohort-study
#6
Bram G Janssen, Hyang-Min Byun, Harry A Roels, Wilfried Gyselaers, Joris Penders, Andrea A Baccarelli, Tim S Nawrot
BACKGROUND: Fetal development largely depends on thyroid hormone availability and proper placental function with an important role played by placental mitochondria. The biological mechanisms by which thyroid hormones exert their effects on mitochondrial function are not well understood. We investigated the role of fetal thyroid hormones on placental mitochondrial DNA (mtDNA) content and mtDNA methylation. We collected placental tissue and cord blood from 305 mother-child pairs that were enrolled between February 2010 and June 2014 in the ENVIRONAGE (ENVIRonmental influence ON early AGEing) birth cohort (province of Limburg, Belgium)...
2017: Clinical Epigenetics
https://www.readbyqxmd.com/read/28630656/physical-activity-black-carbon-exposure-and-dna-methylation-in-the-foxp3-promoter
#7
Stephanie Lovinsky-Desir, Kyung Hwa Jung, Jacqueline R Jezioro, David Z Torrone, Mariangels de Planell-Saguer, Beizhan Yan, Frederica P Perera, Andrew G Rundle, Matthew S Perzanowski, Steven N Chillrud, Rachel L Miller
BACKGROUND: Physical activity is associated with improvement in lung function; however, pollution exposure during physical activity can lead to a transient reduction in lung function. This paradoxical relationship may be linked to altered T regulatory (Treg) cell activity, which increases with exercise and suppresses airway inflammation, but decreases in association with exposure to air pollution. To clarify these relationships, we investigated buccal cell DNA methylation of the forkhead box p3 (FOXP3) gene promoter, a proposed biomarker of Treg activity...
2017: Clinical Epigenetics
https://www.readbyqxmd.com/read/28616099/epigenetic-silencing-of-sall3-is-an-independent-predictor-of-poor-survival-in-head-and-neck-cancer
#8
Kiyoshi Misawa, Daiki Mochizuki, Atsushi Imai, Yuki Misawa, Shiori Endo, Masato Mima, Hideya Kawasaki, Thomas E Carey, Takeharu Kanazawa
BACKGROUND: This study examined Sal-like protein (SALL)3 methylation profiles of head and neck cancer (HNSCC) patients at diagnosis and follow-up and evaluated their prognostic significance and value as a biomarker. SALL3 expression was examined in a panel of cell lines by quantitative reverse transcription polymerase chain reaction (RT-PCR). The methylation status of the SALL3 promoter was examined by quantitative methylation-specific PCR. RESULTS: SALL3 promoter methylation was associated with transcriptional inhibition and was correlated with disease recurrence in 64...
2017: Clinical Epigenetics
https://www.readbyqxmd.com/read/28603561/distinct-dna-methylation-profiles-in-subtypes-of-orofacial-cleft
#9
Gemma C Sharp, Karen Ho, Amy Davies, Evie Stergiakouli, Kerry Humphries, Wendy McArdle, Jonathan Sandy, George Davey Smith, Sarah J Lewis, Caroline L Relton
BACKGROUND: Epigenetic data could help identify risk factors for orofacial clefts, either by revealing a causal role for epigenetic mechanisms in causing clefts or by capturing information about causal genetic or environmental factors. Given the evidence that different subtypes of orofacial cleft have distinct aetiologies, we explored whether children with different cleft subtypes showed distinct epigenetic profiles. METHODS: In whole-blood samples from 150 children from the Cleft Collective cohort study, we measured DNA methylation at over 450,000 sites on the genome...
2017: Clinical Epigenetics
https://www.readbyqxmd.com/read/28603560/histone-deacetylase-inhibitors-potentiate-photodynamic-therapy-in-colon-cancer-cells-marked-by-chromatin-mediated-epigenetic-regulation-of-cdkn1a
#10
Andrea Halaburková, Rastislav Jendželovský, Ján Kovaľ, Zdenko Herceg, Peter Fedoročko, Akram Ghantous
BACKGROUND: Hypericin-mediated photodynamic therapy (HY-PDT) has recently captured increased attention as an alternative minimally invasive anticancer treatment, although cancer cells may acquire resistance. Therefore, combination treatments may be necessary to enhance HY-PDT efficacy. Histone deacetylase inhibitors (HDACis) are often used in combination treatments due to their non-genotoxic properties and epigenetic potential to sensitize cells to external stimuli. Therefore, this study attempts for the first time to investigate the therapeutic effects of HDACis in combination with visible light-mediated PDT against cancer...
2017: Clinical Epigenetics
https://www.readbyqxmd.com/read/28588744/effect-of-personal-exposure-to-black-carbon-on-changes-in-allergic-asthma-gene-methylation-measured-5%C3%A2-days-later-in-urban-children-importance-of-allergic-sensitization
#11
Kyung Hwa Jung, Stephanie Lovinsky-Desir, Beizhan Yan, David Torrone, Jennifer Lawrence, Jacqueline R Jezioro, Matthew Perzanowski, Frederica P Perera, Steven N Chillrud, Rachel L Miller
BACKGROUND: Asthma gene DNA methylation may underlie the effects of air pollution on airway inflammation. However, the temporality and individual susceptibility to environmental epigenetic regulation of asthma has not been fully elucidated. Our objective was to determine the timeline of black carbon (BC) exposure, measured by personal sampling, on DNA methylation of allergic asthma genes 5 days later to capture usual weather variations and differences related to changes in behavior and activities...
2017: Clinical Epigenetics
https://www.readbyqxmd.com/read/28588743/zar1-is-a-novel-epigenetically-inactivated-tumour-suppressor-in-lung-cancer
#12
Antje M Richter, Steffen Kiehl, Nicole Köger, Janina Breuer, Thorsten Stiewe, Reinhard H Dammann
BACKGROUND: Lung cancer is the leading cause of cancer-related deaths with 1.8 million new cases each year and poor 5-year prognosis. Promoter hypermethylation of tumour suppressors leads to their inactivation and thereby can promote cancer development and progression. RESULTS: In this study, we analysed ZAR1 (zygote arrest 1), which has been said to be a maternal-effect gene and its expression mostly limited to certain reproductive tissues. Our study shows that ZAR1 is expressed in normal lung but inactivated by promoter methylation in lung cancer...
2017: Clinical Epigenetics
https://www.readbyqxmd.com/read/28572863/epi-drugs-in-combination-with-immunotherapy-a-new-avenue-to-improve-anticancer-efficacy
#13
REVIEW
Roberta Mazzone, Clemens Zwergel, Antonello Mai, Sergio Valente
Immune checkpoint factors, such as programmed cell death protein-1/2 (PD-1, PD-2) or cytotoxic T lymphocyte-associated antigen-4 (CTLA-4) receptors, are targets for monoclonal antibodies (MAbs) developed for cancer immunotherapy. Indeed, modulating immune inhibitory pathways has been considered an important breakthrough in cancer treatment. Although immune checkpoint blockade therapy used to treat malignant diseases has provided promising results, both solid and haematological malignancies develop mechanisms that enable themselves to evade the host immune system...
2017: Clinical Epigenetics
https://www.readbyqxmd.com/read/28572862/prognostic-significance-of-line-1-hypomethylation-in-oropharyngeal-squamous-cell-carcinoma
#14
Carlo Furlan, Jerry Polesel, Luigi Barzan, Giovanni Franchin, Sandro Sulfaro, Salvatore Romeo, Francesca Colizzi, Aurora Rizzo, Vittorio Baggio, Vittorio Giacomarra, Angelo Paolo Dei Tos, Paolo Boscolo-Rizzo, Emanuela Vaccher, Riccardo Dolcetti, Luca Sigalotti, Elisabetta Fratta
BACKGROUND: Inclusion of new biomarkers to improve a personalized treatment approach for oropharyngeal squamous cell carcinoma (OPSCC) is urgently needed. Hypomethylation of the Long interspersed nucleotide element-1 (LINE-1) repetitive elements, a widely accepted surrogate of overall genomic DNA methylation content, was found to be associated with a poor prognosis in several cancers. At present, no studies have investigated the influence of LINE-1 methylation levels on OPSCC relapse...
2017: Clinical Epigenetics
https://www.readbyqxmd.com/read/28572861/genome-wide-dna-methylation-profiling-integrated-with-gene-expression-profiling-identifies-pax9-as-a-novel-prognostic-marker-in-chronic-lymphocytic-leukemia
#15
Lata Rani, Nitin Mathur, Ritu Gupta, Ajay Gogia, Gurvinder Kaur, Jaspreet Kaur Dhanjal, Durai Sundar, Lalit Kumar, Atul Sharma
BACKGROUND: In chronic lymphocytic leukemia (CLL), epigenomic and genomic studies have expanded the existing knowledge about the disease biology and led to the identification of potential biomarkers relevant for implementation of personalized medicine. In this study, an attempt has been made to examine and integrate the global DNA methylation changes with gene expression profile and their impact on clinical outcome in early stage CLL patients. RESULTS: The integration of DNA methylation profile (n = 14) with the gene expression profile (n = 21) revealed 142 genes as hypermethylated-downregulated and; 62 genes as hypomethylated-upregulated in early stage CLL patients compared to CD19+ B-cells from healthy individuals...
2017: Clinical Epigenetics
https://www.readbyqxmd.com/read/28572860/pulmonary-microrna-profiling-implications-in-upper-lobe-predominant-lung-disease
#16
David A Armstrong, Amanda B Nymon, Carol S Ringelberg, Corina Lesseur, Haley F Hazlett, Louisa Howard, Carmen J Marsit, Alix Ashare
BACKGROUND: Numerous pulmonary diseases manifest with upper lobe predominance including cystic fibrosis, smoking-related chronic obstructive pulmonary disease, and tuberculosis. Zonal hypoxia, characteristic of these pulmonary maladies, and oxygen stress in general is known to exert profound effects on various important aspects of cell biology. Lung macrophages are major participants in the pulmonary innate immune response and regional differences in macrophage responsiveness to hypoxia may contribute in the development of lung disease...
2017: Clinical Epigenetics
https://www.readbyqxmd.com/read/28533824/analysis-of-the-dna-methylation-level-of-cancer-related-genes-in-colorectal-cancer-and-the-surrounding-normal-mucosa
#17
Tamotsu Sugai, Masakazu Yoshida, Makoto Eizuka, Noriyuki Uesugii, Wataru Habano, Kouki Otsuka, Akira Sasaki, Eiichiro Yamamoto, Takayuki Matsumoto, Hiromu Suzuki
BACKGROUND: Two molecular pathways promote the development of colorectal cancer (CRC). One is termed "microsatellite stable" (MSS) whereas the other is characterized by "microsatellite instability" (MSI or MIN). In addition, the CpG island methylation phenotype is known to be an important alteration as a third molecular type. Thus, DNA methylation is thought to provide potential biomarkers for assessment of cancer risk in normal mucosa. In addition, it is also known that colonic location is an important parameter in the development of CRC...
2017: Clinical Epigenetics
https://www.readbyqxmd.com/read/28515798/epigenome-wide-association-of-myocardial-infarction-with-dna-methylation-sites-at-loci-related-to-cardiovascular-disease
#18
Masahiro Nakatochi, Sahoko Ichihara, Ken Yamamoto, Keiko Naruse, Shigeki Yokota, Hiroyuki Asano, Tatsuaki Matsubara, Mitsuhiro Yokota
BACKGROUND: Development of cardiovascular disease (CVD), including coronary artery disease, arrhythmia, and ischemic stroke, depends on environmental and genetic factors. To investigate the epigenetic basis of myocardial infarction (MI), we performed an epigenome-wide association study for this condition in elderly Japanese subjects. A total of 192 case subjects with MI and 192 control subjects were recruited from hospital attendees and the general population, respectively. Genome-wide DNA methylation (DNAm) profiles for DNA isolated from whole blood were obtained by analysis with an Infinium HumanMethylation450 BeadChip...
2017: Clinical Epigenetics
https://www.readbyqxmd.com/read/28515797/circulating-nucleosomes-as-new-blood-based-biomarkers-for-detection-of-colorectal-cancer
#19
Jean-François Rahier, Anne Druez, Laurence Faugeras, Jean-Paul Martinet, Myriam Géhénot, Eléonore Josseaux, Marielle Herzog, Jake Micallef, Fabienne George, Monique Delos, Thierry De Ronde, Abdenor Badaoui, Lionel D'Hondt
BACKGROUND: Colonoscopy is currently widely accepted as the gold standard for detection of colorectal cancer (CRC) providing detection of up to 95% of pre-cancerous lesions during the procedure. However, certain limitations exist in most countries including cost and access to the procedure. Moreover, colonoscopy is an invasive technique with risk inherent to the endoscopic procedure. For this reason, alternative screening tests, in particular, fecal occult blood-based tests, have been widely adopted for frontline screening...
2017: Clinical Epigenetics
https://www.readbyqxmd.com/read/28515796/genetic-heterogeneity-of-patients-with-suspected-silver-russell-syndrome-genome-wide-copy-number-analysis-in-82-patients-without-imprinting-defects
#20
Takanobu Inoue, Akie Nakamura, Tomoko Fuke, Kazuki Yamazawa, Shinichiro Sano, Keiko Matsubara, Seiji Mizuno, Yoshika Matsukura, Chie Harashima, Tatsuji Hasegawa, Hisakazu Nakajima, Kumi Tsumura, Zenro Kizaki, Akira Oka, Tsutomu Ogata, Maki Fukami, Masayo Kagami
BACKGROUND: Silver-Russell syndrome (SRS) is a rare congenital disorder characterized by pre- and postnatal growth failure and dysmorphic features. Recently, pathogenic copy number variations (PCNVs) and imprinting defects other than hypomethylation of the H19-differentially methylated region (DMR) and maternal uniparental disomy chromosome 7 have been reported in patients with the SRS phenotype. This study aimed to clarify the frequency and clinical features of patients with SRS phenotype caused by PCNVs...
2017: Clinical Epigenetics
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