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Epigenetics pathology

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https://www.readbyqxmd.com/read/29785401/rheumatoid-arthritis-and-mirnas-a-critical-review-through-a-functional-view
#1
REVIEW
Maria Cristina Moran-Moguel, Stefania Petarra-Del Rio, Evangelina E Mayorquin-Galvan, Maria G Zavala-Cerna
Rheumatoid arthritis (RA) is a systemic autoimmune disease with severe joint inflammation and destruction associated with an inflammatory environment. The etiology behind RA remains to be elucidated; most updated concepts include the participation of environmental, proteomic, epigenetic, and genetic factors. Epigenetic is considered the missing link to explain genetic diversification among RA patients. Within epigenetic factors participating in RA, miRNAs are defined as small noncoding molecules with a length of approximately 22 nucleotides, capable of gene expression modulation, either negatively through inhibition of translation and degradation of the mRNA or positively through increasing the translation rate...
2018: Journal of Immunology Research
https://www.readbyqxmd.com/read/29782940/defining-osteoblast-and-adipocyte-lineages-in-the-bone-marrow
#2
J L Pierce, D L Begun, J J Westendorf, M E McGee-Lawrence
Bone is a complex endocrine organ that facilitates structural support, protection to vital organs, sites for hematopoiesis, and calcium homeostasis. The bone marrow microenvironment is a heterogeneous niche consisting of multipotent musculoskeletal and hematopoietic progenitors and their derivative terminal cell types. Amongst these progenitors, bone marrow mesenchymal stem/stromal cells (BMSCs) may differentiate into osteogenic, adipogenic, myogenic, and chondrogenic lineages to support musculoskeletal development as well as tissue homeostasis, regeneration and repair during adulthood...
May 18, 2018: Bone
https://www.readbyqxmd.com/read/29780354/targeting-the-metastatic-bone-microenvironment-by-micrornas
#3
REVIEW
Marie-Therese Haider, Hanna Taipaleenmäki
Bone metastases are a common and devastating feature of late-stage breast cancer. Metastatic bone disease is a consequence of disturbed bone remodeling due to pathological interactions between cancer cells and the bone microenvironment (BME). In the BME, breast cancer cells severely alter the balanced bone formation and bone resorption driven by osteoblasts and osteoclasts. The complex cellular cross talk in the BME is governed by secreted molecules, signaling pathways and epigenetic cues including non-coding RNAs...
2018: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/29780254/are-ovarian-cancer-stem-cells-the-target-for-innovative-immunotherapy
#4
REVIEW
Liang Wang, Tianmin Xu, Manhua Cui
Cancer stem cells (CSCs), a subpopulation of cancer cells with the ability of self-renewal and differentiation, are believed to be responsible for tumor generation, progression, metastasis, and relapse. Ovarian cancer, the most malignant gynecological cancer, has consistent pathology behavior with CSC model, which suggests that therapies based on ovarian cancer stem cells (OCSCs) can gain a more successful prognosis. Much evidence has proved that epigenetic mechanism played an important role in tumor formation and sustainment...
2018: OncoTargets and Therapy
https://www.readbyqxmd.com/read/29776381/wnt-signaling-in-multiple-myeloma-a-central-player-in-disease-with-therapeutic-potential
#5
REVIEW
Ingrid Spaan, Reinier A Raymakers, Anja van de Stolpe, Victor Peperzak
Multiple myeloma is the second most frequent hematological malignancy in the western world and remains incurable, predominantly due to acquired drug resistance and disease relapse. The highly conserved Wnt signal transduction pathway, which plays a key role in regulating cellular processes of proliferation, differentiation, migration, and stem cell self-renewal, is associated with multiple aspects of disease. Bone homeostasis is severely disturbed by Wnt antagonists that are secreted by the malignant plasma cells in the bone marrow...
May 18, 2018: Journal of Hematology & Oncology
https://www.readbyqxmd.com/read/29775753/long-non-coding-rna-biomarker-for-human-laryngeal-squamous-cell-carcinoma-prognosis
#6
Jingjing Chen, Zhisen Shen, Hongxia Deng, Wei Zhou, Qi Liao, Ying Mu
Long non-coding RNAs (lncRNA) were discovered in tumors. The regulation of lncRNA in human laryngeal squamous cell carcinoma (LSCC) remains incomplete. Uncovering the potential of lncRNA to stratify the prognosis of LSCC and streamline the vast amount of clinical information will affect medical interventions. The surgical resected LSCC tissues, adjacent non-cancerous tissues (ANCT) and lymph node metastatic tissue (LNM) were collected from 76 patients for lncRNA AC008440.10 expression assay. The stages of LSCC and LNM were classified accordingly...
May 15, 2018: Gene
https://www.readbyqxmd.com/read/29774131/methylation-of-dna-and-chromatin-as-a-mechanism-of-oncogenesis-and-therapeutic-target-in-neuroblastoma
#7
REVIEW
Ram Mohan Ram Kumar, Nina Felice Schor
Neuroblastoma (NB), a developmental cancer, is often fatal, emphasizing the need to understand its pathogenesis and identify new therapeutic targets. The heterogeneous pathological and clinical phenotype of NB underscores the cryptic biological and genetic features of this tumor that result in outcomes ranging from rapid progression to spontaneous regression. Despite recent genome-wide mutation analyses, most primary NBs do not harbor driver mutations, implicating epigenetically-mediated gene regulatory mechanisms in the initiation and maintenance of NB...
April 24, 2018: Oncotarget
https://www.readbyqxmd.com/read/29773426/stem-cell-transcription-factor-sox2-in-synovial-sarcoma-and-other-soft-tissue-tumors
#8
Heba Zayed, Iver Petersen
BACKGROUND: SOX2 has gained considerable interest as a pluripotency inducing gene. Co-transfection of SOX2 together with NANOG, KLF4 and c-MYC into adult fibroblasts was able to generate pluripotent stem cells. SOX2 has been reported to be expressed in synovial sarcoma, a tumor being characterized by the SS18-SSX gene fusion forming part of the SWI/SNF chromatin remodeling complex that affects histone methylation. The role of SOX2 in this tumor type as well as other soft tissue tumor entities however is still poorly characterized...
May 4, 2018: Pathology, Research and Practice
https://www.readbyqxmd.com/read/29772764/the-making-of-leukemia
#9
REVIEW
Inés González-Herrero, Guillermo Rodríguez-Hernández, Andrea Luengas-Martínez, Marta Isidro-Hernández, Rafael Jiménez, Maria Begoña García-Cenador, Francisco Javier García-Criado, Isidro Sánchez-García, Carolina Vicente-Dueñas
Due to the clonal nature of human leukemia evolution, all leukemic cells carry the same leukemia-initiating genetic lesions, independently of the intrinsic tumoral cellular heterogeneity. However, the latest findings have shown that the mode of action of oncogenes is not homogeneous throughout the developmental history of leukemia. Studies on different types of hematopoietic tumors have shown that the contribution of oncogenes to leukemia is mainly mediated through the epigenetic reprogramming of the leukemia-initiating target cell...
May 17, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29764956/spotlight-on-the-transglutaminase-2-gene-a-focus-on-genomic-and-transcriptional-aspects
#10
REVIEW
Nicoletta Bianchi, Simone Beninati, Carlo M Bergamini
The type 2 isoenzyme is the most widely expressed transglutaminase in mammals displaying several intra- and extracellular activities depending on its location (protein modification, modulation of gene expression, membrane signalling and stabilization of cellular interactions with the extracellular matrix) in relation to cell death, survival and differentiation. In contrast with the appreciable knowledge about the regulation of the enzymatic activities, much less is known concerning its inducible expression, which is altered in inflammatory and neoplastic diseases...
May 15, 2018: Biochemical Journal
https://www.readbyqxmd.com/read/29762158/recent-advances-in-the-diagnosis-and-pathogenesis-of-neurofibromatosis-type-1-nf1-associated-peripheral-nervous-system-neoplasms
#11
Jody F Longo, Shannon M Weber, Brittany P Turner-Ivey, Steven L Carroll
The diagnosis of a neurofibroma or a malignant peripheral nerve sheath tumor (MPNST) often raises the question of whether the patient has the genetic disorder neurofibromatosis type 1 (NF1) as well as how this will impact the patient's outcome, what their risk is for developing additional neoplasms and whether treatment options differ for NF1-associated and sporadic peripheral nerve sheath tumors. Establishing a diagnosis of NF1 is challenging as this disorder has numerous neoplastic and non-neoplastic manifestations which are variably present in individual patients...
May 4, 2018: Advances in Anatomic Pathology
https://www.readbyqxmd.com/read/29748034/ampk-induced-memory-improvements-in-the-diabetic-population-a-case-study
#12
Alicia Halikas, Kelly J Gibas
Diabetics in mid-life carry a 1.5 times higher risk of developing Alzheimer's disease than those diagnosed with diabetes (T2D) later in life [1]. Recent research points to accelerated cognitive decline within a range of 20%-50% for middle-aged diabetics as compared to non-diabetic populations [2,3]. Metabolic syndrome (MetS), a type 2 diabetes (T2D) precursor, is also linked to MCI and AD pathologies via hypo-metabolic brain circuitry that inhibits glucose metabolism and attenuates cognitive function [4]. Dysregulation of intracellular and extracellular signaling as mediated by the mTOR and AMPK pathways is the result...
April 27, 2018: Diabetes & Metabolic Syndrome
https://www.readbyqxmd.com/read/29747683/reduced-penetrance-of-the-psen1-h163y-autosomal-dominant-alzheimer-mutation-a-22-year-follow-up-study
#13
Steinunn Thordardottir, Elena Rodriguez-Vieitez, Ove Almkvist, Daniel Ferreira, Laure Saint-Aubert, Anne Kinhult-Ståhlbom, Håkan Thonberg, Michael Schöll, Eric Westman, Anders Wall, Maria Eriksdotter, Henrik Zetterberg, Kaj Blennow, Agneta Nordberg, Caroline Graff
BACKGROUND: The range of onset ages within some PSEN1 families is wide, and a few cases of reduced penetrance of PSEN1 mutations have been reported. However, published data on reduced penetrance have been limited to clinical histories, often collected retrospectively and lacking biomarker information. We present a case of reduced penetrance of the PSEN1 H163Y mutation in a carrier prospectively followed for 22 years. METHODS: Two brothers (A and B), both carriers of the H163Y mutation, were followed between 1995 and 2017...
May 10, 2018: Alzheimer's Research & Therapy
https://www.readbyqxmd.com/read/29744727/immunohistochemical-biomarkers-in-thyroid-pathology
#14
REVIEW
Zubair Baloch, Ozgur Mete, Sylvia L Asa
The application of immunohistochemistry to the diagnosis of thyroid lesions has increased as new biomarkers have emerged. In this review, we discuss the biomarkers that are critical for accurate diagnosis, prognosis, and management. Immunohistochemical markers are used to confirm that an unusual tumor in the thyroid is indeed of thyroid origin, either of follicular epithelial or C-cell differentiation; the various mimics include nonthyroidal lesions such as parathyroid tumors, paragangliomas, thymic neoplasms, and metastatic malignancies...
May 9, 2018: Endocrine Pathology
https://www.readbyqxmd.com/read/29742950/inflammation-in-the-pleural-cavity-following-injection-of-multi-walled-carbon-nanotubes-is-dependent-on-their-characteristics-and-the-presence-of-il-1-genes
#15
Yke Jildouw Arnoldussen, Vidar Skaug, Mona Aleksandersen, Erik Ropstad, Kristine Haugen Anmarkrud, Elin Einarsdottir, Fang Chin-Lin, Cesilie Granum Bjørklund, Mayes Kasem, Einar Eilertsen, Ron N Apte, Shanbeh Zienolddiny
Upon inhalation, multi-walled carbon nanotubes (MWCNTs) may reach the subpleura and pleural spaces, and induce pleural inflammation and/or mesothelioma in humans. However, the mechanisms of MWCNT-induced pathology after direct intrapleural injections are still only partly elucidated. In particular, a role of the proinflammatory interleukin-1 (IL-1) cytokines in pleural inflammation has so far not been published. We examined the MWCNT-induced pleural inflammation, gene expression abnormalities, and the modifying role of IL-1α and β cytokines following intrapleural injection of two types of MWCNTs (CNT-1 and CNT-2) compared with crocidolite asbestos in IL-1 wild-type (WT) and IL-1α/β KO (IL1-KO) mice...
May 9, 2018: Nanotoxicology
https://www.readbyqxmd.com/read/29739108/using-blood-and-plasma-micrornas-as-a-non-invasive-biomarker-in-patients-with-colorectal-cancer
#16
Horatiu Stefanescu, Delia Muntean, Ciprian Pilut, Mircea Diaconu, Roxana Popescu, Delia Hutanu, Marius Moise, Lighezan Diana, Razvan Nitu, Alina Popa Cherecheanu, Silvius Negoita, Ciprian V Iovan, Emil Ungureanu, Valentin Calu, Ioana Ciuca
BACKGROUND: A high percentage of oncological patients die yearly because of colorectal cancer (CRC). Worldwide, CRC represents the fourth leading cause of death among oncological patients. Numerous studies have been conducted in order to identify new biomarkers for the early diagnosis of patients with CRC. From this point of view, an ideal biomarker is represented by the expression of microRNAs. In this paper, we wish to summarize the expressions of microRNAs in CRC and to present the pathophysiological and genetic interactions that microRNAs have with protein systems in these patients...
March 1, 2018: Clinical Laboratory
https://www.readbyqxmd.com/read/29736028/pm20d1-is-a-quantitative-trait-locus-associated-with-alzheimer-s-disease
#17
Jose V Sanchez-Mut, Holger Heyn, Bianca A Silva, Lucie Dixsaut, Paula Garcia-Esparcia, Enrique Vidal, Sergi Sayols, Liliane Glauser, Ana Monteagudo-Sánchez, Jordi Perez-Tur, Isidre Ferrer, David Monk, Bernard Schneider, Manel Esteller, Johannes Gräff
The chances to develop Alzheimer's disease (AD) result from a combination of genetic and non-genetic risk factors 1 , the latter likely being mediated by epigenetic mechanisms 2 . In the past, genome-wide association studies (GWAS) have identified an important number of risk loci associated with AD pathology 3 , but a causal relationship remains difficult to establish. In contrast, locus-specific or epigenome-wide association studies (EWAS) have revealed site-specific epigenetic alterations, which provide mechanistic insights for a particular risk gene but often lack the statistical power of GWAS 4 ...
May 7, 2018: Nature Medicine
https://www.readbyqxmd.com/read/29728458/the-epigenetic-regulator-sirt7-guards-against-mammalian-cellular-senescence-induced-by-ribosomal-dna-instability
#18
Silvana Paredes, Maria Angulo-Ibanez, Luisa Tasselli, Scott M Carlson, Wei Zheng, Tie-Mei Li, Katrin F Chua
In the yeast Saccharomyces cerevisiae, genomic instability in rDNA repeat sequences is an underlying cause of cell aging and is suppressed by the chromatin-silencing factor Sir2. In humans, rDNA instability is observed in cancers and premature aging syndromes, but its underlying mechanisms and functional consequences remain unclear. Here, we uncovered a pivotal role of sirtuin 7 (SIRT7), a mammalian Sir2 homolog, in guarding against rDNA instability and show that this function of SIRT7 protects against senescence in primary human cells...
May 4, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29722544/histone-acetylation-maps-in-aged-mice-developmentally-exposed-to-lead-epigenetic-drift-and-alzheimer-related-genes
#19
Aseel Eid, Syed Waseem Bihaqi, Christopher Hemme, John M Gaspar, Ronald P Hart, Nasser H Zawia
AIM: Early life exposure to lead (Pb) has been shown to increase late life biomarkers involved in Alzheimer's disease (AD) pathology. Here, we tested the hypothesis that latent over expression of AD-related genes may be regulated through histone activation pathways. METHODS: Chromatin immunoprecipitation sequencing was used to map the histone activation mark (H3K9Ac) to the mouse genome in developmentally Pb exposed mice on postnatal days 20, 270 and 700. RESULTS: Exposure to Pb resulted in a global downregulation of H3K9Ac across the lifespan; except in genes associated with the Alzheimer pathway...
May 3, 2018: Epigenomics
https://www.readbyqxmd.com/read/29721215/epigenetic-regulation-of-long-non-coding-rnas-in-gastric-cancer
#20
REVIEW
Zhixia Zhou, Zhijuan Lin, Xin Pang, Muhammad Akram Tariq, Xiang Ao, Peifeng Li, Jianxun Wang
Gastric cancer is one of the most common cancers and is the second leading cause of cancer mortality worldwide. Therefore, it is urgent to explore new molecular biomarkers for early diagnosis, early treatment and prognosis for gastric cancer patients. Recently, increasing evidence has shown that epigenetic changes, such as aberrant DNA methylation, histone modifications, and noncoding RNAs (ncRNAs) expression, play substantial roles in the development and progression of malignancies. Among these changes, long non-coding RNAs (lncRNAs), a novel class of ncRNAs, are emerging as highly versatile actors in a variety of cellular processes by regulating gene expression at the epigenetic level as well as at the transcriptional and post-transcriptional levels...
April 10, 2018: Oncotarget
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