Articles

Is Friedreich ataxia an epigenetic disorder?

Friedreich ataxia (FRDA) is a debilitating and frequently fatal neurological disorder that is recessively inherited. It belongs to the group of genetic disorders known as the Repeat Expansion Diseases, in whic...

Authors: Daman Kumari and Karen Usdin

Epigenetic understanding of gene-environment interactions in psychiatric disorders: a new concept of clinical genetics

Epigenetics is a mechanism that regulates gene expression independently of the underlying DNA sequence, relying instead on the chemical modification of DNA and histone proteins. Although environmental and gene...

Authors: Takeo Kubota, Kunio Miyake and Takae Hirasawa

Suffocating cancer: hypoxia-associated epimutations as targets for cancer therapy

Lower than normal levels of oxygen (hypoxia) is a hallmark of all solid tumours rendering them frequently resistant to both radiotherapy and chemotherapy regimes. Furthermore, tumour hypoxia and activation of ...

Authors: C Thirlwell, LKE Schulz, HK Dibra and S Beck

Ribavirin restores ESR1 gene expression and tamoxifen sensitivity in ESR1 negative breast cancer cell lines

Tumor growth is estrogen independent in approximately one-third of all breast cancers, which makes these patients unresponsive to hormonal treatment. This unresponsiveness to hormonal treatment may be explaine...

Authors: Anne Sappok and Ulrich Mahlknecht

Impact of DNA methylation on trophoblast function

The influence of epigenetics is evident in many fields of medicine today. This is also true in placentology, where versatile epigenetic mechanisms that regulate expression of genes have shown to have important...

Authors: L Serman and D Dodig

Analysis of hypermethylation and expression profiles of APC and ATM genes in patients with oral squamous cell carcinoma

Adenomatous polyposis coli (APC) and Ataxia-telangiectasia-mutated (ATM) gene products have an important role in cell cycle control and maintenance of genomic stability. Our aim was to analyze ATM and APC methyla...

Authors: Mohammad Ayub Rigi-Ladiz, Dor Mohammad Kordi-Tamandani and Adam Torkamanzehi

Epigenetic (de)regulation of adult hippocampal neurogenesis: implications for depression

Adult neurogenesis represents a dynamic level of modulation upon the neuroplastic properties of the mature nervous system, that is essential to the homeostatic brain function. The adult neurogenic process comp...

Authors: António Mateus-Pinheiro, Luísa Pinto and Nuno Sousa

Dietary phytochemicals, HDAC inhibition, and DNA damage/repair defects in cancer cells

Genomic instability is a common feature of cancer etiology. This provides an avenue for therapeutic intervention, since cancer cells are more susceptible than normal cells to DNA damaging agents. However, ther...

Authors: Praveen Rajendran, Emily Ho, David E Williams and Roderick H Dashwood

Promoter de-methylation of cyclin D2 by sulforaphane in prostate cancer cells

Sulforaphane (SFN), an isothiocyanate derived from cruciferous vegetables, induces potent anti-proliferative effects in prostate cancer cells. One mechanism that may contribute to the anti-proliferative effect...

Authors: Anna Hsu, Carmen P Wong, Zhen Yu, David E Williams, Roderick H Dashwood and Emily Ho

The effects of depression and use of antidepressive medicines during pregnancy on the methylation status of the IGF2 imprinted control regions in the offspring

In utero exposures to environmental factors may result in persistent epigenetic modifications affecting normal development and susceptibility to chronic diseases in later life. We explored the relationship betwee...

Authors: A Soubry, SK Murphy, Z Huang, A Murtha, JM Schildkraut, RL Jirtle, F Wang, J Kurtzberg, W Demark-Wahnefried, MR Forman and C Hoyo

Clinical Epigenetics is now a fully open access journal

Authors: Ulrich Mahlknecht

Epigenetic approaches in stem cell transplantation

Authors: Nicole Engel

Clinico-pathological significance of TNF alpha-induced protein3 (TNFAIP3) in Middle Eastern colorectal carcinoma

Authors: Prashant Bavi, Jehad Abubaker, Nasser Al-Sanea, Alaa Abduljabbar, Luai H. Ashari, Samar Alhomoud, Fouad Al-Dayel, Shahab Uddin, Abdul K. Siraj and Khawla S. Al-Kuraya

Epigenetic abnormalities in myeloproliferative neoplasms: a target for novel therapeutic strategies

The myeloproliferative neoplasms (MPNs) are a group of clonal hematological malignancies characterized by a hypercellular bone marrow and a tendency to develop thrombotic complications and to evolve to myelofi...

Authors: John Mascarenhas, Nitin Roper, Pratima Chaurasia and Ronald Hoffman

Exposure and fetal growth-associated miRNA alterations in the human placenta

Researchers have begun to examine epigenetic alterations in the placenta, making key advances in understanding the epigenetic regulatory mechanisms of the placenta that define underlying processes of human dev...

Authors: Matthew A. Maccani and Carmen J. Marsit

Role of DNA methylation in head and neck cancer

Head and neck cancer (HNC) is a heterogenous and complex entity including diverse anatomical sites and a variety of tumor types displaying unique characteristics and different etilogies. Both environmental and...

Authors: Semra Demokan and Nejat Dalay

Unique patterns of evolutionary conservation of imprinted genes

During mammalian evolution, complex systems of epigenetic gene regulation have been established: Epigenetic mechanisms control tissue-specific gene expression, X chromosome inactivation in females and genomic ...

Authors: Martina Paulsen

MicroRNA-mediated drug resistance in breast cancer

Chemoresistance is one of the major hurdles to overcome for the successful treatment of breast cancer. At present, there are several mechanisms proposed to explain drug resistance to chemotherapeutic agents, i...

Authors: Kristy R. Kutanzi, Olga V. Yurchenko, Frederick A. Beland, Vasyl’ F. Checkhun and Igor P. Pogribny

H2AX phosphorylation at the sites of DNA double-strand breaks in cultivated mammalian cells and tissues

A sequence variant of histone H2A called H2AX is one of the key components of chromatin involved in DNA damage response induced by different genotoxic stresses. Phosphorylated H2AX (γH2AX) is rapidly concentra...

Authors: Denis V. Firsanov, Liudmila V. Solovjeva and Maria P. Svetlova

Aberrant DNA hypermethylation of the ITIH5 tumor suppressor gene in acute myeloid leukemia

Epigenetic mechanisms such as DNA hypermethylation and modifications of histone amino acids are known to play an important role in the control of gene expression both in normal human development and tumorigene...

Authors: Christoph Oing, Edgar Jost, Edgar Dahl, Stefan Wilop, Tim H. Brümmendorf and Oliver Galm

Epigenetic regulation of prostate cancer

Prostate cancer is a commonly diagnosed cancer in men and a leading cause of cancer deaths. Whilst the underlying mechanisms leading to prostate cancer are still to be determined, it is evident that both genet...

Authors: Suyin P. Chin, Joanne L. Dickinson and Adele F. Holloway

Evolutional and clinical implications of the epigenetic regulation of protein glycosylation

Protein N glycosylation is an ancient posttranslational modification that enriches protein structure and function. The addition of one or more complex oligosaccharides (glycans) to the backbones of the majorit...

Authors: Tomislav Horvat, Vlatka Zoldoš and Gordan Lauc

Insufficient DNA methylation affects healthy aging and promotes age-related health problems

DNA methylation plays an integral role in development and aging through epigenetic regulation of genome function. DNA methyltransferase 1 (Dnmt1) is the most prevalent DNA methyltransferase that maintains geno...

Authors: Liang Liu, Thomas van Groen, Inga Kadish, Yuanyuan Li, Deli Wang, Smitha R. James, Adam R. Karpf and Trygve O. Tollefsbol

Transcriptional modulation by VIP: a rational target against inflammatory disease

Vasoactive intestinal peptide (VIP) is a pleiotropic, highly conserved, peptide found in many different biological systems throughout invertebrate phyla. VIP is produced by cells of the immune system but also ...

Authors: Hiba Ibrahim, Paul Barrow and Neil Foster

ABT-737 and/or folate reverse the PDGF-induced alterations in the mitochondrial apoptotic pathway in low-grade glioma patients

Elevated activation of the platelet-derived growth factor (PDGF) pathway, apoptosis evasion phenotype, and global DNA hypomethylation are hallmarks frequently observed in cancers, such as in low-grade glioma (...

Authors: Emilie Debien, Eric Hervouet, Fabien Gautier, Philippe Juin, Francois M. Vallette and Pierre-Francois Cartron

Epigenetic management of major psychosis

Epigenetic mechanisms are thought to play a major role in the pathogenesis of the major psychoses (schizophrenia and bipolar disorder), and they may be the link between the environment and the genome in the pa...

Authors: Jacob Peedicayil

Epigenetic regulation of mucin genes in human cancers

Mucins are high molecular weight glycoproteins that play important roles in diagnostic and prognostic prediction and in carcinogenesis and tumor invasion. Regulation of expression of mucin genes has been studi...

Authors: Norishige Yamada, Sho Kitamoto, Seiya Yokoyama, Tomofumi Hamada, Masamichi Goto, Hideaki Tsutsumida, Michiyo Higashi and Suguru Yonezawa

Modulation of gene-specific epigenetic states and transcription by non-coding RNAs

Emerging evidence points to a role for long non-coding RNAs in the modulation of epigenetic states and transcription in human cells. New insights, using various forms of small non-coding RNAs, suggest that a m...

Authors: Kevin V. Morris

Epigenetics and the power of art

This review presents an epigenetic view on complex factors leading to development and perception of “genius.” There is increasing evidence which indicates that artistic creativity is influenced by epigenetic p...

Authors: Heidrun Karlic and Pia Baurek

The role of epigenetic dysregulation in the epidemic of allergic disease

The epidemic of allergic disease in early life is one of the clearest indicators that the developing immune system is vulnerable to modern environmental changes. A range of environmental exposures epidemiologi...

Authors: Susan Prescott and Richard Saffery

Long interspersed nuclear element-1 hypomethylation in cancer: biology and clinical applications

Epigenetic changes in long interspersed nuclear element-1s (LINE-1s or L1s) occur early during the process of carcinogenesis. A lower methylation level (hypomethylation) of LINE-1 is common in most cancers, an...

Authors: Nakarin Kitkumthorn and Apiwat Mutirangura

Treatment of poor-risk myelodysplastic syndromes and acute myeloid leukemia with a combination of 5-azacytidine and valproic acid

5-azacytidine (AZA) has become standard treatment for patients with higher-risk myelodysplastic syndrome (MDS). Response rate is about 50% and response duration is limited. Histone deactylase (HDAC) inhibitors...

Authors: Andrea Kuendgen, Gesine Bug, Oliver G. Ottmann, Detlef Haase, Julie Schanz, Barbara Hildebrandt, Kathrin Nachtkamp, Judith Neukirchen, Ariane Dienst, Rainer Haas, Ulrich Germing and Norbert Gattermann

Can metabolic plasticity be a cause for cancer? Warburg–Waddington legacy revisited

Fermentation of glucose to lactate in the presence of sufficient oxygen, known as aerobic glycolysis or Warburg effect, is a universal phenotype of cancer cells. Understanding its origin and role in cellular i...

Authors: Paike Jayadeva Bhat, Lalit Darunte, Venkatesh Kareenhalli, Jaswandi Dandekar and Abhay Kumar

Epigenetic analyses in blood cells of men suspected of prostate cancer predict the outcome of biopsy better than serum PSA levels

Lymphocytes from the peripheral blood of patients with prostate cancer—the most frequent (noncutaneous) tumor in men—display epigenetic aberrations (altered modes of allelic replication) characteristic of the ...

Authors: Samuel Cytron, Evgeni Stepnov, Igor Bounkin, Maya Mashevich, Aviva Dotan and Lydia Avivi

Identification of ChIP-seq mapped targets of HP1β due to bombesin/GRP receptor activation

Epithelial cells lining the adult colon do not normally express gastrin-releasing peptide (GRP) or its receptor (GRPR). In contrast, GRP/GRPR can be aberrantly expressed in human colorectal cancer (CRC) includ...

Authors: Robert Tell, Q. Tian Wang, Adam Blunier and Richard V. Benya

Epigenetic mechanisms in virus-induced tumorigenesis

About 15–20% of human cancers worldwide have viral etiology. Emerging data clearly indicate that several human DNA and RNA viruses, such as human papillomavirus, Epstein–Barr virus, Kaposi’s sarcoma-associated...

Authors: Elzbieta Poreba, Justyna Karolina Broniarczyk and Anna Gozdzicka-Jozefiak

The biological basis and clinical significance of hormonal imprinting, an epigenetic process

The biological phenomenon, hormonal imprinting, was named and defined by us (Biol Rev, 1980, 55, 47-63) 30 years ago, after many experimental works and observations. Later, similar phenomena were also named to...

Authors: György Csaba

Epigenetic regulation of S100 protein expression

S100 proteins are small, calcium-binding proteins whose genes are localized in a cluster on human chromosome 1. Through their ability to interact with various protein partners in a calcium-dependent manner, th...

Authors: Wiesława Leśniak

Differential effects of nutritional folic acid deficiency and moderate hyperhomocysteinemia on aortic plaque formation and genome-wide DNA methylation in vascular tissue from ApoE-/- mice

Low folate intake is associated with vascular disease. Causality has been attributed to hyperhomocysteinemia. However, human intervention trials have failed to show the benefit of homocysteine-lowering therapi...

Authors: Chris J. McNeil, John H. Beattie, M-J Gordon, Lynn P. Pirie and Susan J. Duthie

Targeting Huntington’s disease through histone deacetylases

Huntington’s disease (HD) is a debilitating neurodegenerative condition with significant burdens on both patient and healthcare costs. Despite extensive research, treatment options for patients with this condi...

Authors: Steven G. Gray

The elements of human cyclin D1 promoter and regulation involved

Cyclin D1 is a cell cycle machine, a sensor of extracellular signals and plays an important role in G1-S phase progression. The human cyclin D1 promoter contains multiple transcription factor binding sites suc...

Authors: Zhi-yi Guo, Xiao-hui Hao, Fei-Fei Tan, Xin Pei, Li-Mei Shang, Xue-lian Jiang and Fang Yang

Impact of vitamin D metabolism on clinical epigenetics

The bioactive vitamin D (VD) metabolite, 1,25-dihydroxyvitamin D₃ regulates essential pathways of cellular metabolism and differentiation via its nuclear receptor (VDR). Molecular mechanisms which are known to pl...

Authors: Heidrun Karlic and Franz Varga

The transposon-driven evolutionary origin and basis of histone deacetylase functions and limitations in disease prevention

Histone deacetylases (HDACs) are homologous to prokaryotic enzymes that removed acetyl groups from non-histone proteins before the evolution of eukaryotic histones. Enzymes inherited from prokaryotes or from a...

Authors: Gregory W. Peek and Trygve O. Tollefsbol

5-Aza-2′-deoxycytidine stress response and apoptosis in prostate cancer

While studying on epigenetic regulatory mechanisms (DNA methylation at C-5 of –CpG– cytosine and demethylation of methylated DNA) of certain genes (FAS, CLU, E-cadh, CD44, and Cav-1) associated with prostate c...

Authors: Aditi Patra, Moonmoon Deb, Rajvir Dahiya and Samir Kumar Patra

Interaction of SET domains with histones and nucleic acid structures in active chromatin

Changes in the normal program of gene expression are the basis for a number of human diseases. Epigenetic control of gene expression is programmed by chromatin modifications—the inheritable “histone code”—the ...

Authors: Wladyslaw A. Krajewski and Oleg L. Vassiliev

Epigenetic mechanisms and genome stability

Epigenetic marks are well recognized as heritable chemical modifications of DNA and chromatin that induce chromatin structural changes thereby affecting gene activity. A lesser-known phenomenon is the pervasiv...

Authors: Emily L. Putiri and Keith D. Robertson

Molecular marks for epigenetic identification of developmental and cancer stem cells

Epigenetic regulations of genes by reversible methylation of DNA (at the carbon-5 of cytosine) and numerous reversible modifications of histones play important roles in normal physiology and development, and e...

Authors: Samir Kumar Patra, Moonmoon Deb and Aditi Patra

The possibility of evidence-based psychiatry: depression as a case

Considering psychiatry as a medical discipline, a diagnosis identifying a disorder should lead to an effective therapy. Such presumed causality is the basis of evidence-based psychiatry. We examined the streng...

Authors: Drozdstoy Stojanov, Jakob Korf, Peter de Jonge and Georgi Popov

Association between hMLH1 hypermethylation and JC virus (JCV) infection in human colorectal cancer (CRC)

Incorporation of viral DNA may interfere with the normal sequence of human DNA bases on the genetic level or cause secondary epigenetic changes such as gene promoter methylation or histone acetylation. Colorec...

Authors: Alex Vilkin and Yaron Niv

Histone deacetylase (HDAC) inhibitors in recent clinical trials for cancer therapy

Heritable changes in gene expression that are not based upon alterations in the DNA sequence are defined as epigenetics. The most common mechanisms of epigenetic regulation are the methylation of CpG islands w...

Authors: Julia M. Wagner, Björn Hackanson, Michael Lübbert and Manfred Jung