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Epigenetic markers

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https://www.readbyqxmd.com/read/29456678/association-between-dscr4-gene-methylation-in-plasma-in-early-pregnancy-and-down-s-syndrome
#1
Lingyu Hu, Changju Zhou
Down's syndrome (DS), a chromosomal abnormal genetic disease caused by a local or total copy of chromosome 21, leads to patients suffering from delayed body growth, special facies, mild to moderate mental retardation and other symptoms, seriously affecting the life of patients. The aim of the present study was to examine the association between Down's syndrome critical region 4 ( DSCR4 ) gene methylation in plasma in high-risk pregnant women with DS in early pregnancy (hereinafter referred to as pregnant women in early pregnancy) and DS, in order to screen new epigenetic markers for the clinical diagnosis of DS...
March 2018: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29453919/genetic-and-epigenetic-differences-of-benign-and-malignant-pheochromocytomas-and-paragangliomas-ppgls
#2
Fatemeh Khatami, Mahsa Mohammadamoli, Seyed Mohammad Tavangar
Pheochromocytomas and paragangliomas (PPGLs) are tumors arising from the adrenal medulla and sympathetic/parasympathetic paraganglia, respectively. According to Th e Cancer Genome Atlas (TCGA), approximately 40% of PPGLs are due to germ line mutations in one of 16 susceptibility genes, and a further 30% are due to somatic alterations in at least seven main genes (VHL, EPAS1, CSDE1, MAX, HRAS, NF1, RET, and possibly KIF1B). Th e diagnosis of malignant PPGL was straight forward in most cases as it was defined as presence of PPGL in non-chromaffin tissues...
January 1, 2018: Endocrine Regulations
https://www.readbyqxmd.com/read/29452666/transformation-of-follicular-lymphoma-why-does-it-happen-and-can-it-be-prevented
#3
REVIEW
Brian K Link
Follicular lymphoma is a clinical disease with a multitude of presentations and behaviors. Although infrequent, transformation of follicular lymphoma to a more aggressive behaving subtype - prototypically diffuse large B-cell lymphoma - confers a substantially adverse prognosis. There is no consensus for optimal management after transformation is recognized. Historically considered a distinct clinical event, this review highlights the multiple subclinical transformational events that either variably or cumulatively result in clinical recognition of transformed follicular lymphoma...
March 2018: Best Practice & Research. Clinical Haematology
https://www.readbyqxmd.com/read/29449053/genetic-and-epigenetic-alterations-in-the-tumour-tumour-margins-and-normal-buccal-mucosa-of-patients-with-oral-cancer
#4
N Eljabo, N Nikolic, J Carkic, D Jelovac, M Lazarevic, N Tanic, J Milasin
Despite adequate surgical resection, oral squamous cell carcinoma (OSCC) shows a high rate of recurrence and metastasis, which could be explained by the presence of molecular alterations in seemingly normal tumour margins and the entire oral mucosa. The aims of this study were (1) to assess the presence of gene amplification (c-Myc and HER2) and promoter methylation (p14 and p16) in the tumours, tumour margins, and unaffected oral mucosa of 40 OSCC patients, and (2) to evaluate the possibility of using these alterations as prognostic markers...
February 12, 2018: International Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/29445424/promoter-methylation-of-dna-damage-repair-ddr-genes-in-human-tumor-entities-rbbp8-ctip-is-almost-exclusively-methylated-in-bladder-cancer
#5
Jolein Mijnes, Jürgen Veeck, Nadine T Gaisa, Eduard Burghardt, Tim C de Ruijter, Sonja Gostek, Edgar Dahl, David Pfister, Sebastian C Schmid, Ruth Knüchel, Michael Rose
Background: Genome-wide studies identified pan-cancer genes and shared biological networks affected by epigenetic dysregulation among diverse tumor entities. Here, we systematically screened for hypermethylation of DNA damage repair (DDR) genes in a comprehensive candidate-approach and exemplarily identify and validate candidate DDR genes as targets of epigenetic inactivation unique to bladder cancer (BLCA), which may serve as non-invasive biomarkers. Methods: Genome-wide DNA methylation datasets (2755 CpG probes of n = 7819 tumor and n = 659 normal samples) of the TCGA network covering 32 tumor entities were analyzed in silico for 177 DDR genes...
2018: Clinical Epigenetics
https://www.readbyqxmd.com/read/29442378/-shine-bright-like-a-diamond-is-research-on-high-functioning-adhd-at-last-entering-the-mainstream
#6
EDITORIAL
Klaus-Peter Lesch
The paper by Greven and colleagues (this issue) is intensifying discussion how research on attention-deficit/hyperactivity disorder (ADHD) can be moved away from the deficit-focused view to a concept, which is oriented towards resources a patient might be able to recruit to function at a high-level despite impairments. To promote understanding of high-functioning (HF)-ADHD, more longitudinal studies are required employing neuropsychologic, neuroimaging and neurobiologic approaches, with focus on compensatory mechanisms during fronto-striatal-amygdala maturation and adult plasticity as well as epigenetic modification marker screening strategies to identify homoeostatic processes of resilience in endophenotypic traits related to coping styles of target groups...
March 2018: Journal of Child Psychology and Psychiatry, and Allied Disciplines
https://www.readbyqxmd.com/read/29440377/efficient-derivation-of-stable-primed-pluripotent-embryonic-stem-cells-from-bovine-blastocysts
#7
Yanina Soledad Bogliotti, Jun Wu, Marcela Vilarino, Daiji Okamura, Delia Alba Soto, Cuiqing Zhong, Masahiro Sakurai, Rafael Vilar Sampaio, Keiichiro Suzuki, Juan Carlos Izpisua Belmonte, Pablo Juan Ross
Embryonic stem cells (ESCs) are derived from the inner cell mass of preimplantation blastocysts. From agricultural and biomedical perspectives, the derivation of stable ESCs from domestic ungulates is important for genomic testing and selection, genome engineering, and modeling human diseases. Cattle are one of the most important domestic ungulates that are commonly used for food and bioreactors. To date, however, it remains a challenge to produce stable pluripotent bovine ESC lines. Employing a culture system containing fibroblast growth factor 2 and an inhibitor of the canonical Wnt-signaling pathway, we derived pluripotent bovine ESCs (bESCs) with stable morphology, transcriptome, karyotype, population-doubling time, pluripotency marker gene expression, and epigenetic features...
February 9, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29439678/correlation-between-global-methylation-level-of-peripheral-blood-leukocytes-and-serum-c-reactive-protein-level-modified-by-mthfr-polymorphism-a-cross-sectional-study
#8
Masanori Nojima, Motoki Iwasaki, Yoshio Kasuga, Shiro Yokoyama, Hiroshi Onuma, Hideki Nishimura, Ritsu Kusama, Teruhiko Yoshida, Shoichiro Tsugane
BACKGROUND: Chronic inflammatory conditions are associated with higher tumor incidence through epigenetic and genetic alterations. Here, we focused on an association between an inflammation marker, C-reactive-protein (CRP), and global DNA methylation levels of peripheral blood leukocytes. METHODS: The subjects were 384 healthy Japanese women enrolled as the control group of a case-control study for breast cancer conducted from 2001 to 2005. Global DNA methylation was quantified by Luminometric Methylation Assay (LUMA)...
February 13, 2018: BMC Cancer
https://www.readbyqxmd.com/read/29438472/klinefelter-syndrome-integrating-genetics-neuropsychology-and-endocrinology
#9
Claus H Gravholt, Simon Chang, Mikkel Wallentin, Jens Fedder, Philip Moore, Anne Skakkebæk
Although first identified over 70 years ago, Klinefelter syndrome (KS) continue to pose significant diagnostic challenges, as many patients are still misdiagnosed, or remain undiagnosed. In fact, as few as 25% of KS patients are accurately diagnosed, and most of these diagnoses are not made until adulthood. Classic characteristics of KS include small testes, infertility, hypergonadothropic hypogonadism, and cognitive impairment. However, the pathophysiology behind KS is not well understood, although genetic effects are also thought to play a role...
February 9, 2018: Endocrine Reviews
https://www.readbyqxmd.com/read/29436791/promoter-hypermethylation-of-the-eyes-absent-4-gene-is-a-tumor-specific-epigenetic-biomarker-in-iranian-colorectal-cancer-patients
#10
Matineh Barati Bagerabad, Sahar Tavakolian, Mohammad Reza Abbaszadegan, Mohammad Amin Kerachian
The aim of this study was to investigate whether hypermethylation of Eyes Absent 4 (EYA4) is also implicated in Iranian Colorectal Cancer (CRC) patients or not. From fresh frozen tissues, samples from 38 paired (cancer and normal) CRC tissue specimens were used in this study, the DNA was isolated, sodium bisulfite treated and analyzed by methylation-specific polymerase (MSP) chain reaction using primers specific for unmethylated or methylated promoter sequences of the EYA4 gene. We also analyzed EYA4 mRNA expression using real time RT-PCR...
January 2018: Acta Medica Iranica
https://www.readbyqxmd.com/read/29435136/epigenetic-silencing-of-smoc1-in-traditional-serrated-adenoma-and-colorectal-cancer
#11
Hironori Aoki, Eiichiro Yamamoto, Akira Takasawa, Takeshi Niinuma, Hiro-O Yamano, Taku Harada, Hiro-O Matsushita, Kenjiro Yoshikawa, Ryo Takagi, Eiji Harada, Yoshihito Tanaka, Yuko Yoshida, Tomoyuki Aoyama, Makoto Eizuka, Akira Yorozu, Hiroshi Kitajima, Masahiro Kai, Norimasa Sawada, Tamotsu Sugai, Hiroshi Nakase, Hiromu Suzuki
Colorectal sessile serrated adenoma/polyps (SSA/Ps) are well-known precursors of colorectal cancer (CRC) characterized by BRAF mutation and microsatellite instability. By contrast, the molecular characteristics of traditional serrated adenoma (TSAs) are not fully understood. We analyzed genome-wide DNA methylation in TSAs having both protruding and flat components. We identified 11 genes, including SMOC1 , methylation of which progressively increased during the development of TSAs. SMOC1 was prevalently methylated in TSAs, but was rarely methylated in SSA/Ps ( p < 0...
January 12, 2018: Oncotarget
https://www.readbyqxmd.com/read/29432776/establishment-of-cre-mediated-hbv-recombinant-cccdna-rcccdna-cell-line-for-cccdna-biology-and-antiviral-screening-assays
#12
Min Wu, Jin Li, Lei Yue, Lu Bai, Yaming Li, Jieliang Chen, Xiaonan Zhang, Zhenghong Yuan
Hepatitis B virus (HBV) covalently closed circular DNA (cccDNA), existing in hepatocyte nuclei as a stable minichromosome, plays a central role in the life cycle of the virus and permits the persistence of infection. Despite being essential for HBV infection, little is known about the molecular mechanisms of cccDNA formation, regulation and degradation, and there is no therapeutic agents directly targeting cccDNA, fore mostly due to the lack of robust, reliable and quantifiable HBV cccDNA models. In this study, combined the Cre/loxP and sleeping beauty transposons system, we established HepG2-derived cell lines integrated with 2-60 copies of monomeric HBV genome flanked by loxP sites (HepG2-HBV/loxP)...
February 9, 2018: Antiviral Research
https://www.readbyqxmd.com/read/29432558/models-of-epigenetic-age-capture-patterns-of-dna-methylation-in-glioma-associated-with-molecular-subtype-survival-and-recurrence
#13
Peter Liao, Quinn T Ostrom, Lindsay Stetson, Jill S Barnholtz-Sloan
Background: Models of epigenetic aging (epigenetic clocks) have been implicated as potentially useful markers for cancer risk and prognosis. Using two previously published methods for modeling epigenetic age, Horvath's clock and epiTOC, we investigated epigenetic aging patterns related to WHO grade and molecular subtype as well as associations of epigenetic aging with glioma survival and recurrence. Methods: Epigenetic ages were calculated using Horvath's clock and epiTOC on 516 lower grade glioma and 141 glioblastoma cases along with 136 non-tumor (normal) brain samples...
February 8, 2018: Neuro-oncology
https://www.readbyqxmd.com/read/29429518/epigenetic-status-of-buffalo-fibroblasts-treated-with-sodium-butyrate-a-chromatin-remodeling-agent
#14
Papori Sharma, A S Yadav, N L Selokar, Dharmendra Kumar, S S Dhaka, P S Yadav
The somatic cells having higher levels of DNA methylation and reducing it in donor cells before nuclear transfer (NT) by treating them with chemicals, may improve cloning efficiency of NT embryos by providing donor cells with similar epigenetic characteristics as in vivo embryos. Therefore, the present study was planned to understand mechanism of epigenetic changes in donor cells (buffalo fibroblasts) treated with different concentration of sodium butyrate (NaBu)-a chromatin remodeling agent. The cultured fibroblasts purity and lineage were confirmed by fibroblast specific protein and gene markers (Vimentin, Tubulin and Cytokeratin) at different passages using immuno-staining and qPCR respectively...
February 2018: Tissue & Cell
https://www.readbyqxmd.com/read/29428732/knockdown-of-long-non-coding-rna-map3k20-antisense-rna-1-inhibits-gastric-cancer-growth-through-epigenetically-regulating-mir-375
#15
Yongsheng Quan, Yan Zhang, Wei Lin, Zhaohua Shen, Shuai Wu, Changxin Zhu, Xiaoyan Wang
Emerging evidence has demonstrated that long noncoding RNAs (lncRNAs) play a critical role in tumorigenesis of gastric cancer. LncRNA MAP3K20 antisense RNA 1 (MLK7-AS1) has been identified as one of gastric cancer-specific lncRNAs. However, its precise role in gastric cancer remains unknown. In this study, we found that lncRNA MLK7-AS1 was significantly increased in gastric cancer tissues compared with in adjacent tissues. Gastric cancer patients with high MLK7-AS1 expression had a shorter survival and poorer prognosis...
February 8, 2018: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29427040/novel-epigenetic-markers-for-gastric-cancer-risk-stratification-in-individuals-after-helicobacter-pylori-eradication
#16
Masahiro Maeda, Satoshi Yamashita, Taichi Shimazu, Naoko Iida, Hideyuki Takeshima, Takeshi Nakajima, Ichiro Oda, Sohachi Nanjo, Chika Kusano, Akiko Mori, Hiroshi Moro, Harumi Yamada, Shoichiro Tsugane, Toshiro Sugiyama, Yoshiharu Sakai, Toshikazu Ushijima
BACKGROUND: The risk stratification of healthy individuals after Helicobacter pylori eradication is an urgent issue. The assessment of aberrant DNA methylation accumulated in gastric tissues with normal appearance, which can reflect overall epigenomic damage, is a promising strategy. We aimed to establish novel epigenetic cancer risk markers for H. pylori-eradicated individuals. METHODS: Gastric mucosa was collected from eight healthy volunteers without H. pylori infection (G1), 75 healthy individuals with gastric atrophy (G2), and 94 gastric cancer patients (G3) after H...
February 9, 2018: Gastric Cancer
https://www.readbyqxmd.com/read/29418079/concise-review-chronic-myeloid-leukemia-stem-cell-niche-and-response-to-pharmacologic-treatment
#17
REVIEW
Elena Arrigoni, Marzia Del Re, Sara Galimberti, Giuliana Restante, Eleonora Rofi, Stefania Crucitta, Claudia Baratè, Mario Petrini, Romano Danesi, Antonello Di Paolo
Nowadays, more than 90% of patients affected by chronic myeloid leukemia (CML) survive with a good quality of life, thanks to the clinical efficacy of tyrosine kinase inhibitors (TKIs). Nevertheless, point mutations of the ABL1 pocket occurring during treatment may reduce binding of TKIs, being responsible of about 20% of cases of resistance among CML patients. In addition, the presence of leukemic stem cells (LSCs) represents the most important event in leukemia progression related to TKI resistance. LSCs express stem cell markers, including active efflux pumps and genetic and epigenetic alterations together with deregulated cell signaling pathways involved in self-renewal, such as Wnt/β-catenin, Notch, and Hedgehog...
February 8, 2018: Stem Cells Translational Medicine
https://www.readbyqxmd.com/read/29416873/biomarker-discovery-for-renal-cancer-stem-cells
#18
REVIEW
Claudia Corrò, Holger Moch
Characterised by high intra- and inter-tumor heterogeneity, metastatic renal cell carcinoma (RCC) is resistant to chemo- and radiotherapy. Therefore, the development of new prognostic and diagnostic markers for RCC patients is needed. Cancer stem cells (CSCs) are a small population of neoplastic cells within a tumor which present characteristics reminiscent of normal stem cells. CSCs are characterised by unlimited cell division, maintenance of the stem cell pool (self-renewal), and capability to give rise to all cell types within a tumor; and contribute to metastasis in vivo (tumourigenicity), treatment resistance and recurrence...
January 2018: Journal of Pathology. Clinical Research
https://www.readbyqxmd.com/read/29416602/the-prognostic-significance-of-nuclear-expression-of-phf2-and-c-ebp%C3%AE-in-clear-cell-renal-cell-carcinoma-with-consideration-of-adipogenic-metabolic-evolution
#19
Jeong Hwan Park, Minsun Jung, Kyung Chul Moon
Clear cell renal cell carcinoma (ccRCC) is the most common subtype of renal cell carcinoma (RCC), and it has an unfavourable prognosis compared to other RCCs. Plant homeodomain finger 2 (PHF2) and CCATT/enhancer binding protein α (C/EBPα) play a role in the epigenetic regulation of adipogenesis, and their tumour suppressive functions have been elucidated. This study aimed to assess the nuclear expression of PHF2 and C/EBPα in ccRCC and to evaluate their role in pathogenesis and prognosis. The nuclear expression of PHF2 and C/EBPα was evaluated in 344 cases of ccRCC by immunohistochemistry, and adipogenesis was assessed based on cytoplasmic features...
January 2, 2018: Oncotarget
https://www.readbyqxmd.com/read/29415265/oxidation-products-of-5-methyl-cytosine-are-decreased-in-senescent-cells-and-tissues-of-progeroid-mice
#20
Ewelina Zarakowska, Jolanta Czerwinska, Agnieszka Tupalska, Matt J Yousefzadeh, Siobhán Q Gregg, Claudette M St Croix, Laura J Niedernhofer, Marek Foksinski, Daniel Gackowski, Anna Szpila, Marta Starczak, Barbara Tudek, Ryszard Olinski
5-Hydroxymethylcytosine and 5-formylcytosine are stable DNA base modifications generated from 5-methylcytosine by the ten-eleven translocation protein family that function as epigenetic markers. 5-Hydroxymethyluracil may also be generated from thymine by ten-eleven translocation enzymes. Here, we asked if these epigenetic changes accumulate in senescent cells, since they are thought to be inversely correlated with proliferation. Testing this in ERCC1-XPF-deficient cells and mice also enabled discovery if these DNA base changes are repaired by nucleotide excision repair...
February 3, 2018: Journals of Gerontology. Series A, Biological Sciences and Medical Sciences
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