Article
Immunology
Melanie A. Whitmore, Hong Li, Wentao Lyu, Sharmily Khanam, Guolong Zhang
Summary: The combination of HDACi and DNMTi/HMTi showed a strong synergy in inducing HDP gene expression, and also regulated the expression of tight junction proteins.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Multidisciplinary Sciences
William Villiers, Audrey Kelly, Xiaohan He, James Kaufman-Cook, Abdurrahman Elbasir, Halima Bensmail, Paul Lavender, Richard Dillon, Borbala Mifsud, Cameron S. Osborne
Summary: The PML-RARA gene fusion is the characteristic driver of Acute Promyelocytic Leukaemia (APL) and is known to bind to the genome. Here, the authors characterise the impact of PML-RARA on gene regulation in APL cell lines and patient samples using transcriptomics, epigenomics, and machine learning.
NATURE COMMUNICATIONS
(2023)
Article
Oncology
Chong Wang, Tao Wang, Kang-Jing Li, Ling-Hong Hu, Yue Li, Yu-Zhong Yu, Tao Xie, Sha Zhu, Du-Jiang Fu, Yang Wang, Xian-Zi Zeng, Feng-Ping Liu, Hong Chen, Zhe-Sheng Chen, Ning-Han Feng, Jinghua Liu, Yong Jiang, Shan-Chao Zhao
Summary: The SETD4 protein plays a crucial role in prostate cancer by catalyzing histone lysine methylation and suppressing NUPR1 transcription, leading to the inhibition of Akt signaling pathway and preventing PCa development.
Article
Multidisciplinary Sciences
Wanlin Jiang, Megan E. Block, Chandra S. Boosani
Summary: This study investigates the role of TNF-alpha and IGF-1 in regulating the epigenetic mechanisms that promote VSMCs proliferation, and identifies a novel molecular mechanism involving DNMT1, HDAC10, and HDAC2. Results reveal the inter-dependence of epigenetic mediators in VSMCs proliferation.
Review
Urology & Nephrology
Anbarasu Kumaraswamy, Katherine R. Welker Leng, Thomas C. Westbrook, Joel A. Yates, Shuang G. Zhao, Christopher P. Evans, Felix Y. Feng, Todd M. Morgan, Joshi J. Alumkal
Summary: This study systematically reviewed the role of epigenetic factors in prostate cancer from 2015 to 2020, highlighting key preclinical and translational data. Findings from both preclinical and clinical studies were reviewed and summarized, along with a discussion on 12 ongoing clinical studies with epigenetic targeted therapies.
Review
Cell Biology
Shunhao Zhang, Yanji Gong, Chunjie Li, Wenbin Yang, Longjiang Li
Summary: Recent studies have shown the crucial role of cancer stem cells (CSCs) in various cancer processes, with their cellular plasticity not entirely explained by genetic mutations. The research on epigenetic modifications as a complementary explanation has been increasing in recent years, leading to the development of therapeutic strategies targeting CSCs. This review summarizes the understanding of CSCs and their role in cancer progression, focusing on epigenetic alterations and specific chemical inhibitors as primary cancer therapies.
CELL PROLIFERATION
(2021)
Article
Biochemistry & Molecular Biology
Basant M. Salama, Maged W. Helmy, Hosny Fouad, Marium M. Shamaa, Maha E. Houssen
Summary: The aim of this study was to explore the effect of a combination of decitabine (DAC) and vorinostat (VOR) on the crosstalk between apoptosis and autophagy in the HCC HepG2 cell line. The synergistic effect of VOR and DAC was confirmed, and the combined treatment inhibited proliferation and enhanced apoptosis. Moreover, the combination induced autophagy as an early event. Epigenetic modulation via the VOR/DAC combination showed an antitumor effect through the coordination of autophagy-apoptosis crosstalk and promotion of autophagy-induced apoptosis in HCC cancer cells.
CURRENT ISSUES IN MOLECULAR BIOLOGY
(2023)
Article
Multidisciplinary Sciences
Meriam Nefla, Nicola J. Darling, Manuel van Gijsel Bonnello, Philip Cohen, J. Simon C. Arthur
Summary: Salt Inducible Kinases 2 (SIK2) and 3 (SIK3) play important roles in thymic T cell development, with their loss leading to decreased numbers of peripheral T cells and defects in negative and/or positive selection in the thymus.
SCIENTIFIC REPORTS
(2021)
Article
Biochemistry & Molecular Biology
Hans K. Ghayee, Yiling Xu, Heather Hatch, Richard Brockway, Asha S. Multani, Tongjun Gu, Wendy B. Bollag, Adina Turcu, William E. Rainey, Juilee Rege, Kazutaka Nanba, Vikash J. Bhagwandin, Fiemu Nwariaku, Victor Stastny, Adi F. Gazdar, Jerry W. Shay, Richard J. Auchus, Sergei G. Tevosian
Summary: The human adrenal cortex consists of distinct zones and is the main source of steroid hormone production. Understanding the mechanism of adrenocortical cell differentiation has been challenging, but a patient-derived HAA1 cell line has been discovered that shows unique gene expression patterns upon treatment with histone deacetylase inhibitors. This novel cell line could provide valuable insights into adrenocortical differentiation and steroidogenesis.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Barbara Kunzler Souza, Natalia Hogetop Freire, Thiago Santos Monteiro, Alice Laschuk Herlinger, Mariane Jaeger, Matheus G. S. Dalmolin, Caroline Brunetto de Farias, Lauro Gregianin, Andre T. Brunetto, Algemir L. Brunetto, Carol J. Thiele, Rafael Roesler
Summary: This study found that higher expression of G9a and GLP is associated with poorer prognosis and shorter overall survival in neuroblastoma and Ewing sarcoma. Pharmacological inhibition of G9a/GLP reduced the viability of tumor cells. The findings suggest that G9a and GLP may serve as potential epigenetic targets for pediatric solid cancers.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Svetlana Sharifulina, Valentina Dzreyan, Valeria Guzenko, Svetlana Demyanenko
Summary: The study found that the levels and intracellular localization of DNMT1 and G9a proteins changed in penumbra neurons and astrocytes in the rat cerebral cortex after stroke. Inhibition of DNMT1 and G9a protected penumbra cells from apoptosis and reduced the volume of cerebral infarction induced by stroke.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Cell Biology
Lydia M. M. Parkinson, Sarah L. L. Gillen, Laura M. M. Woods, Lewis Chaytor, Daniel Marcos, Fahad R. R. Ali, Jason S. S. Carroll, Anna Philpott
Summary: ASCL1 plays a role in maintaining proliferation and controlling differentiation in neuroblastoma cells.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Article
Oncology
Margarita E. Neganova, Sergey G. Klochkov, Yulia R. Aleksandrova, Gjumrakch Aliev
Summary: Epigenetic changes associated with histone modifications are important in the emergence and maintenance of various cancer types. Inhibitors of enzymes involved in these modifications are promising for anticancer drug development. This review explores the main features of common histone modifications and their role in malignant neoplasms, discussing strategies for inhibitor development and analyzing the use of multitarget drugs as the most promising strategy.
SEMINARS IN CANCER BIOLOGY
(2022)
Editorial Material
Oncology
Carlos Jimenez, Lucas Moreno, Miguel F. Segura
Summary: The low immunogenicity of neuroblastoma cells, represented by the low expression of major histocompatibility complex class I, poses a challenge to the development of immunotherapies. Cornel et al. demonstrated that epigenetic modulation of neuroblastoma cells using a histone deacetylase inhibitor can enhance the expression of major histocompatibility complex class I and other immune receptors, enabling their recognition by T- and natural killer cells. These discoveries leverage the aberrant epigenetic landscapes of neuroblastoma and provide a potential solution to overcome a major limitation in neuroblastoma immunotherapy.
MOLECULAR ONCOLOGY
(2023)
Review
Biochemistry & Molecular Biology
Alejandra Fernandez, Connor O'Leary, Kenneth J. O'Byrne, Joshua Burgess, Derek J. Richard, Amila Suraweera
Summary: Upon DNA damage induction, chromatin unwinds to allow repair enzymes access. Epigenetic modifications regulate this process and inhibitors of histone deacetylases and DNA methyltransferases play crucial roles in repairing double strand breaks, showing promise in cancer therapy.
FRONTIERS IN MOLECULAR BIOSCIENCES
(2021)
Article
Genetics & Heredity
Igor Araujo Vieira, Tiago Finger Andreis, Bruna Vieira Fernandes, Maria Isabel Achatz, Gabriel S. Macedo, Daniel Schramek, Patricia Ashton-Prolla
Summary: A study found a pathogenic variant in the TP53 protein in Southern and Southeastern Brazil, which is associated with mutation rates in Brazilian LUAD patients. The frequency of this variant in the general population is 0.3%, but it is higher in LUAD patients. Further research is needed to confirm its role in LUAD carcinogenesis.
FRONTIERS IN GENETICS
(2021)
Article
Oncology
Marcel da Camara Ribeiro-Dantas, Danilo Oliveira Imparato, Matheus Gibeke Siqueira Dalmolin, Caroline Brunetto de Farias, Andre Tesainer Brunetto, Mariane da Cunha Jaeger, Rafael Roesler, Marialva Sinigaglia, Rodrigo Juliani Siqueira Dalmolin
Summary: Ewing Sarcoma is a rare cancer with significant impact on patient prognosis. By inferring gene regulatory networks, potential master regulators can be identified to predict patient outcomes. This study sheds light on understanding the regulatory mechanisms and potential prognostic factors of Ewing Sarcoma.
Article
Cell Biology
Livia Fratini, Mariane Jaeger, Caroline Brunetto de Farias, Andre T. Brunetto, Algemir L. Brunetto, Lisa Shaw, Rafael Roesler
Summary: The transcription factor ZEB1 plays a critical role in cell function and embryonic development, with its activities regulated by interactions with miRNAs and lncRNAs. While the exact role of ZEB1 in pediatric cancer is still unclear, emerging evidence suggests its involvement in regulating solid tumors in children.
MOLECULAR AND CELLULAR BIOCHEMISTRY
(2021)
Article
Multidisciplinary Sciences
Camila Matzenbacher Bittar, Yasminne Marinho de Araujo Rocha, Igor Araujo Vieira, Clevia Rosset, Tiago Finger Andreis, Ivaine Tais Sauthier Sartor, Osvaldo Artigalas, Cristina B. O. Netto, Barbara Alemar, Gabriel S. Macedo, Patricia Ashton-Prolla
Summary: Li-Fraumeni syndrome is an autosomal dominant cancer predisposition syndrome, characterized by a predisposition to early onset of a broad spectrum of tumors. Data on prevalence of the disease and pathogenic germline variants are scarce in South America, particularly in Brazil, highlighting the need for larger collaborative studies.
Article
Immunology
Julia A. Gomes, Eduarda Sgarioni, Igor A. Vieira, Lucas R. Fraga, Patricia Ashton-Prolla, Ana Claudia P. Tercas-Tretell, Juliana H. da Silva, Bethania F. R. Ribeiro, Marcial F. Galera, Thalita M. de Oliveira, Maria Denise F. Carvalho de Andrade, Isabella F. Carvalho, Lavinia Schuler-Faccini, Fernanda S. L. Vianna
Summary: Our study found that children with CZS were mainly exposed to ZIKV in the first trimester, while controls were mainly exposed in the third trimester; additionally, children with CZS were more likely to come from families with a lower socioeconomic level. Although no statistically significant association was found between the investigated polymorphisms and CZS development, a significant difference in allelic frequencies of TP53 rs1042522 was observed when comparing individuals with CZS and lissencephaly. This suggests that TP53 rs1042522 polymorphism should be further investigated as a genetic risk factor for lissencephaly development in children with CZS.
FRONTIERS IN CELLULAR AND INFECTION MICROBIOLOGY
(2021)
Review
Biochemistry & Molecular Biology
Rafael Roesler, Barbara Kunzler Souza, Gustavo R. Isolan
Summary: Meningioma is the most common type of intracranial tumor in adults, and novel prognostic biomarkers are urgently needed to guide tumor stratification and clinical prognosis. Molecular and cellular alterations in Meningioma tumors over recent years provide a rational basis for identifying biomarkers and therapeutic targets. The role of receptor tyrosine kinases as oncogenes, including those in the ErbB family, has been well established, suggesting their potential as biomarkers and therapeutic targets in Meningioma.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Biochemistry & Molecular Biology
Barbara Kunzler Souza, Natalia Hogetop Freire, Mariane Jaeger, Caroline Brunetto de Farias, Algemir L. Brunetto, Andre T. Brunetto, Rafael Roesler
Summary: G9a, a histone methyltransferase, is overexpressed in several cancer types, and inhibitors have potential as anticancer agents. Evidence suggests changes in G9a activity are involved in brain tumor development, especially in GBM and MB, as well as NB.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Behavioral Sciences
Isabel Cristina Bandeira, Lucas Giombelli, Isabel Cristina Werlang, Ana Lucia Abujamra, Thais Leite Secchi, Rosane Brondani, Jose Augusto Bragatti, Jorge Wladimir Junqueira Bizzi, Sandra Leistner-Segal, Marino Muxfeldt Bianchin
Summary: The study evaluated the methylation profile of BDNF and SLC6A4 genes in patients with temporal lobe epilepsy and found significantly decreased methylation associated with mood disorders.
FRONTIERS IN INTEGRATIVE NEUROSCIENCE
(2021)
Article
Infectious Diseases
Bruno Cesar Feltes, Igor Araujo Vieira, Jorge Parraga-Alava, Jaime Meza, Edy Portmann, Luis Teran, Marcio Dorn
Summary: This study used machine learning techniques to compare CBC data between Brazil and Ecuador, two genetically distinct Latin American countries. The findings showed a clear distribution pattern of positive and negative cases between the two countries, with almost all red blood cell count parameters being different.
INFECTION GENETICS AND EVOLUTION
(2022)
Letter
Oncology
Rafael Roesler, Caroline Brunetto de Farias, Andre T. Brunetto, Lauro Gregianin, Mariane Jaeger, Carolina Nor, Amanda Thomaz
Article
Biochemistry & Molecular Biology
Julia A. Gomes, Igor Araujo Vieira, Eduarda Sgarioni, Ana Claudia P. Tercas-Tretell, Juliana H. da Silva, Bethania Fr Ribeiro, Marcial F. Galera, Thalita M. de Oliveira, Maria Denise F. Carvalho de Andrade, Isabella F. Carvalho, Lavinia Schuler-Faccini, Fernanda S. L. Vianna
Summary: Zika virus (ZIKV) causes Congenital Zika Syndrome (CZS) in individuals exposed during pregnancy. Studies show that ZIKV infection upregulates miR-124 expression, leading to a decrease in TFRC, a targeted gene of this miRNA. This study investigates whether genetic variants affecting the expression of these genes could increase the risk of CZS development.
Article
Genetics & Heredity
Tiago Finger Andreis, Kayana Isabel Weber de Souza, Igor Araujo Vieira, Barbara Alemar, Marialva Sinigaglia, Yasminne Marinho de Araujo Rocha, Osvaldo Artigalas, Camila Bittar, Cristina Brinckmann Oliveira Netto, Patricia Ashton-Prolla, Clevia Rosset
Summary: In the context of cancer predisposition syndromes, the correct interpretation of germline variants is crucial for genetic counseling and clinical decision making. This study compared the performance of variant classification guidelines in variant reassessment using a BRCA1/2 VUS case series from Brazil. Two of the VUS analyzed were reclassified as likely pathogenic. Challenges in variant classification and reassessment are discussed, and the importance of periodic monitoring and multidisciplinary teams in clinical practice is emphasized.
Article
Obstetrics & Gynecology
Martina Lichtenfels, Noely Paula Cristina Lorenzi, Maricy Tacla, Kaori Yokochi, Flavia Frustockl, Camila Alves Silva, Andre Luiz da Silva, Lara Termini, Caroline Brunetto Farias
Summary: The study aimed to evaluate the accuracy and patient acceptability towards self-sampling using a new device called SelfCervix (R) for detecting HPV-DNA. The results showed that self-sampling had a high accuracy rate similar to physician-collection, and most patients found it comfortable and preferred it over physician-sampling due to its time-saving and convenient nature. Therefore, this new Brazilian device could be considered as an option to reach under-screened populations in Brazil.
REVISTA BRASILEIRA DE GINECOLOGIA E OBSTETRICIA
(2023)
Article
Biochemistry & Molecular Biology
Clevia Rosset, Mariane da Cunha Jaeger, Eduardo Filippi-Chiela, Larissa Brussa Reis, Ivaine Tais Sauthier Sartor, Cristina Brinckmann Oliveira Netto, Caroline Brunetto de Farias, Rafael Roesler, Patricia Ashton-Prolla
Summary: This study evaluated cellular processes regulated by mTORC1 in TSC cells and found alterations in autophagy in non-tumor TSC cells, which could be an important mechanism leading to TSC tumor formation.
GENETICS AND MOLECULAR BIOLOGY
(2021)
Article
Oncology
Alejandro Mauricio Arancibia, Caroline Brunetto De Farias, Algemir Lunardi Brunetto, Rafael Roesler, Lauro Jose Gregianin
Summary: This study aimed to analyze the impact of hospital care volume on the overall survival of children with cancer in Southern Brazil. The findings show that pediatric cancer patients demonstrate better overall survival when treated in high-volume hospitals.
PEDIATRIC BLOOD & CANCER
(2021)
