Review
Cell Biology
Qian Xiang, Yongzhao Zhao, Jialiang Lin, Shuai Jiang, Weishi Li
Summary: This study systematically discusses the different epigenetic modifications and their potential functions in the process of spinal ligament aging.
AGEING RESEARCH REVIEWS
(2022)
Review
Biochemistry & Molecular Biology
Irina Bure, Marina Nemtsova, Ekaterina B. Kuznetsova
Summary: In recent years, scientists have increasingly suggested and confirmed that epigenetic regulators are closely linked and form a comprehensive network of regulatory pathways and feedback loops. This is particularly important for a better understanding of the development and progression of various diseases.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Neurosciences
Lin-Hui Ma, Jing Yan, Xin-Hao Jiao, Cheng-Hua Zhou, Yu-Qing Wu
Summary: The definite mechanism of how anesthesia affects cognition in neonates remains largely unknown, but epigenetic modifications have been identified as playing a significant role. This review discusses the involvement of epigenetic mechanisms in neonatal anesthesia-induced cognitive dysfunction and analyzes the potential of targeting epigenetics for treatment.
FRONTIERS IN MOLECULAR NEUROSCIENCE
(2022)
Review
Cell Biology
Annamaria la Torre, Filomena Lo Vecchio, Antonio Greco
Summary: Aging is characterized by a progressive decline in tissue and organ function, marked by molecular changes at the DNA and protein level. These changes contribute to the development of various human pathologies and increase mortality risk. Understanding the hallmarks of aging, particularly epigenetic modifications, can potentially lead to therapeutic approaches for age-related decline and disease.
Review
Dermatology
Chang Zeng, Lam C. Tsoi, Johann E. Gudjonsson
Summary: The incidence of psoriasis is increasing over time, with recent studies pointing towards the importance of epigenetic modifications in its pathogenesis. Aberrant epigenetic patterns, including changes in DNA methylation, histone modifications and non-coding RNA expression, are observed in psoriatic skin. Reversing these epigenetic mechanisms has shown promise in improving psoriatic phenotypes, making epigenetic therapy a potential avenue for treating psoriasis.
EXPERIMENTAL DERMATOLOGY
(2021)
Review
Pediatrics
Huan Xu, Yuxi Wen, Runming Jin, Hongbo Chen
Summary: This review discusses the genetic alterations and epigenetic dysregulations of hematopoietic progenitor cells in acute myeloid leukemia (AML), emphasizing the role of epigenetic abnormalities in leukemogenesis. The current progress in epigenetic targeted therapy and its potential value in precision and combinational therapy for pediatric AML are also described.
FRONTIERS IN PEDIATRICS
(2022)
Review
Oncology
Maria Rita Braghini, Oriana Lo Re, Ilaria Romito, Maite G. Fernandez-Barrena, Barbara Barbaro, Silvia Pomella, Rossella Rota, Manlio Vinciguerra, Matias A. Avila, Anna Alisi
Summary: Hepatocellular carcinoma (HCC) is the most frequent primary liver cancer, resulting from a unique combination of genetic alterations and epigenetic modifications. Epigenetic changes induce genomic instability prone to mutations and affect gene expression more extensively than genetic changes.
JOURNAL OF EXPERIMENTAL & CLINICAL CANCER RESEARCH
(2022)
Review
Pathology
Meysam Ramezani, Mahsa Zobeiry, Shahrokh Abdolahi, Behzad Hatami, Mohammad Reza Zali, Kaveh Baghaei
Summary: Non-alcoholic fatty liver disease (NAFLD) is a major global health concern due to its increasing prevalence and potential to progress into severe liver disease. Epigenetics plays a significant role in connecting environmental factors to the onset and progression of NAFLD. Recent research has revealed the importance of epigenetic processes such as DNA methylation, histone acetylation, and microRNAs in the pathogenesis of NAFLD.
PATHOLOGY RESEARCH AND PRACTICE
(2023)
Review
Genetics & Heredity
Jinkun Xia, Wangsen Cao
Summary: Studies show that epigenetic modifications affect the Klotho gene in renal diseases, impacting disease progression. Lowered Klotho levels worsen the condition, but beneficial changes can be made through epigenetic interventions.
JOURNAL OF MOLECULAR MEDICINE-JMM
(2021)
Review
Plant Sciences
Garima Bhatia, Wil Prall, Bishwas Sharma, Brian D. Gregory
Summary: Recent studies have shown that diverse RNA classes in plants undergo dynamic covalent chemical modifications, providing new insights into the molecular mechanisms of gene expression regulation. While the impact of epigenetic marks on gene expression in plants is well established, this study focuses on the emerging evidence of crosstalk between the plant epitranscriptome and epigenetic regulation involving DNA modification, histone modification, and non-coding RNAs to understand the intricate determination of gene expression levels underlying key biological processes.
CURRENT OPINION IN PLANT BIOLOGY
(2022)
Review
Environmental Sciences
Zongqin Mei, Guofen Liu, Bo Zhao, Zuoshun He, Shiyan Gu
Summary: This article summarizes the harm of lead to the nervous system and the mechanisms of lead-induced neurological diseases, mainly including the roles of DNA methylation, histone modifications, and non-coding RNAs. The summary provides a theoretical basis and direction for the prevention, diagnosis, and treatment of lead-induced neurological diseases in the future.
ENVIRONMENT INTERNATIONAL
(2023)
Review
Plant Sciences
Rocio Nunez-Vazquez, Benedicte Desvoyes, Crisanto Gutierrez
Summary: Plants have developed various mechanisms to adapt to abiotic stresses, which involve transcriptional regulation and chromatin modifications. Understanding and manipulating these regulatory networks are crucial for enhancing crop resilience and performance against stress.
FRONTIERS IN PLANT SCIENCE
(2022)
Review
Biochemistry & Molecular Biology
Dominik Franciszek Dluski, Ewa Wolinska, Maciej Skrzypczak
Summary: Gestational diabetes mellitus (GDM) is defined as carbohydrate intolerance that appears or is diagnosed for the first time during pregnancy. Studies have shown that GDM can impact both pregnancy and offspring development, leading to long-term adverse health outcomes. Epigenetic changes such as histone modification, DNA methylation, and altered ncRNA function, including miRNAs, play a role in this process.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Genetics & Heredity
Nishat Fatima, Syed Shabihe Raza Baqri, Atrayee Bhattacharya, Nii Koney-Kwaku Koney, Kazim Husain, Ata Abbas, Rais A. Ansari
Summary: Epigenetic regulation plays a crucial role in many diseases, particularly cancer. Flavonoids, as natural compounds with the potential to modulate epigenetic processes, have emerged as promising agents against cancer. Understanding the epigenetic alterations mediated by flavonoids is essential for developing anti-cancer therapies.
FRONTIERS IN GENETICS
(2021)
Review
Nutrition & Dietetics
Maja Milosevic, Aleksandra Arsic, Zorica Cvetkovic, Vesna Vucic
Summary: Neurodegenerative diseases such as Alzheimer's and Parkinson's primarily affect the elderly population and are closely linked to genetics, environmental factors, and oxidative stress. Regular exercise, healthy diet, and the Mediterranean diet can help prevent and slow down the progression of neurodegenerative diseases.
FRONTIERS IN NUTRITION
(2021)
Article
Cell Biology
Dafni Chondronasiou, Diljeet Gill, Lluc Mosteiro, Rocio G. Urdinguio, Antonio Berenguer, Monica Aguilera, Sylvere Durand, Fanny Aprahamian, Nitharsshini Nirmalathasan, Maria Abad, Daniel E. Martin-Herranz, Camille Stephan Otto-Attolini, Neus Prats, Guido Kroemer, Mario F. Fraga, Wolf Reik, Manuel Serrano
Summary: A single period of OSKM expression can induce epigenetic, transcriptomic, and metabolomic changes towards a younger configuration in multiple tissues.
Article
Chemistry, Analytical
Juan R. Tejedor, Gabriel Martin, Annalisa Roberti, Cristina Mangas, Pablo Santamarina-Ojeda, Raul Fernandez Perez, Virginia Lopez, Rocio Gonzalez Urdinguio, Juan J. Alba-Linares, Alfonso Penarroya, Marta E. Alvarez-Arguelles, Jose A. Boga, Agustin Fernandez Fernandez, Susana Rojo-Alba, Mario Fernandez Fraga
Summary: This study presents a novel method to amplify detection of RNA molecules in complex samples, improving the sensitivity and specificity of detecting specific pathogens. The new method enhances signal by digesting DNA/RNA hybrids, reducing the limit of detection compared to traditional methods, and exhibits high specificity to target molecules.
ANALYTICAL CHEMISTRY
(2022)
Article
Hematology
Antonio Lahera, Pilar Lopez-Nieva, Hernan Alarcon, Jose L. Marin-Rubio, Maria A. Cobos-Fernandez, Pablo Fernandez-Navarro, Agustin F. Fernandez, Laura Vela-Martin, Isabel Sastre, Sara Ruiz-Garcia, Pilar Llamas, Jose L. Lopez-Lorenzo, Javier Cornago, Javier Santos, Jose Fernandez-Piqueras, Maria Villa-Morales
Summary: Despite frequent alterations in the JAK/STAT pathway in T-ALL/LBL, there is currently no approved therapy for patients with constitutive JAK/STAT signaling. This study identifies SOCS3 hypermethylation as a recurrent event in T-ALL/LBL and demonstrates its potential as a therapeutic target by counteracting the constitutive activation of the JAK/STAT pathway through different molecular mechanisms.
BRITISH JOURNAL OF HAEMATOLOGY
(2023)
Article
Cardiac & Cardiovascular Systems
Juan Jose Alba-Linares, Raul F. Perez, Juan Ramon Tejedor, David Bastante-Rodriguez, Francisco Ponce, Nuria Garcia Carbonell, Rafael Gomez Zafra, Agustin F. Fernandez, Mario F. Fraga, Empar Lurbe
Summary: Maternal obesity or gestational diabetes mellitus are significant risk factors for cardiometabolic diseases in children. A study on the DNA methylation landscape of children born to mothers with obesity and gestational diabetes found abundant methylation changes during the first 6 months of life, associated with genes and pathways involved in fatty acid metabolism, developmental processes, and mitochondrial bioenergetics. The study also revealed an interaction between developmental methylation changes and maternal metabolic alterations.
CARDIOVASCULAR DIABETOLOGY
(2023)
Article
Gastroenterology & Hepatology
Naroa Goikoetxea-Usandizaga, Miren Bravo, Leire Egia-Mendikute, Leticia Abecia, Marina Serrano-Macia, Rocio G. Urdinguio, Marc Clos-Garcia, Ruben Rodriguez-Agudo, Raquel Araujo-Legido, Lucia Lopez-Bermudo, Teresa C. Delgado, Sofia Lachiondo-Ortega, Irene Gonzalez-Recio, Claudia Gil-Pitarch, Ainize Pena-Cearra, Jorge Simon, Raquel Benede-Ubieto, Silvia Arino, Jose M. Herranz, Mikel Azkargorta, Julio Salazar-Bermeo, Nuria Marti, Marta Varela-Rey, Juan M. Falcon-Perez, Oscar Lorenzo, Ruben Nogueiras, Felix Elortza, Yulia A. Nevzorova, Francisco J. Cubero, Domingo Saura, Luis Alfonso Martinez-Cruz, Guadalupe Sabio, Asis Palazon, Pau Sancho-Bru, Natalia Elguezabal, Mario F. Fraga, Matias A. Avila, Ramon Bataller, Jose J. G. Marin, Franz Martin, Maria Luz Martinez-Chantar
Summary: Alcohol-associated liver disease (ALD), accounting for 70% of liver-related deaths in Europe, has no effective approved therapies. However, targeting methylation-controlled J protein (MCJ) may help in recovering mitochondrial fitness without collateral oxidative damage. Liver-specific MCJ silencing can prevent major ALD hallmarks, such as mitochondrial dysfunction, steatosis, inflammation, and oxidative stress, improving lipid metabolism and liver injury.
Article
Multidisciplinary Sciences
Lucia Morgado-Palacin, Jessie A. Brown, Thomas F. Martinez, Juana M. Garcia-Pedrero, Farhad Forouhar, S. Aidan Quinn, Clara Reglero, Joan Vaughan, Yasamin Hajy Heydary, Cynthia Donaldson, Sandra Rodriguez-Perales, Eva Allonca, Rocio Granda-Diaz, Agustin F. Fernandez, Mario F. Fraga, Arianna L. Kim, Jorge Santos-Juanes, David M. Owens, Juan P. Rodrigo, Alan Saghatelian, Adolfo A. Ferrando
Summary: The TINCR gene plays an important role in epithelium tissues, controlling human epidermal differentiation and wound healing. It has been found to have tumor suppressor properties in squamous cell carcinoma (SCC), being upregulated by UV-induced DNA damage in a TP53-dependent manner. TINCR expression inhibits the growth of SCC cells in vitro and in vivo, and deletion or mutation of the TINCR gene has been observed in SCC clinical samples. These findings highlight the significance of TINCR as a protein coding tumor suppressor gene lost in squamous cell carcinomas.
NATURE COMMUNICATIONS
(2023)
Article
Multidisciplinary Sciences
Paula Morales-Sanchez, Carmen Lambert, Jessica Ares-Blanco, Lorena Suarez-Gutierrez, Elsa Villa-Fernandez, Ana Victoria Garcia, Miguel Garcia-Villarino, Juan Ramon Tejedor, Mario F. Fraga, Edelmiro Menendez Torre, Pedro Pujante, Elias Delgado
Summary: This study aimed to analyze the circulating miRNA expression profile of patients with type 1 diabetes and no other associated pathology. The expression of hsa-miR-1-3p was found to be significantly increased in patients with type 1 diabetes and positively correlated with glycated haemoglobin levels. Changes in hsa-miR-1-3p were also found to directly affect genes involved in vascular development and cardiovascular pathologies. Circulating hsa-miR-1-3p, along with glycemic control, could be used as prognostic biomarkers in type 1 diabetes to prevent the development of vascular complications in these patients.
SCIENTIFIC REPORTS
(2023)
Article
Multidisciplinary Sciences
Annalisa Roberti, Juan Ramon Tejedor, Irene Diaz-Moreno, Virginia Lopez, Pablo Santamarina-Ojeda, Raul F. Perez, Rocio G. Urdinguio, Carmen Concellon, Maria Luz Martinez-Chantar, Juan Luis Fernandez-Morera, Antonio Diaz-Quintana, Vicente del Amo, Agustin F. Fernandez, Mario F. Fraga
Summary: Obesity is associated with dysfunction of adipose tissue, and this study identifies the role of nicotinamide N-methyltransferase (NNMT) in the adipogenesis process. NNMT is transactivated by CCAAT/Enhancer Binding Protein beta (CEBPB) during the early phase of adipocyte differentiation. Knockout and inhibition of NNMT impair terminal adipogenesis, suggesting that NNMT is a key component during the early stages of adipogenesis and could be a potential therapeutic target for obesity.
SCIENTIFIC REPORTS
(2023)
Article
Oncology
Pablo Santamarina-Ojeda, Juan Ramon Tejedor, Raul F. Perez, Virginia Lopez, Annalisa Roberti, Cristina Mangas, Agustin F. Fernandez, Mario F. F. Fraga
Summary: Glioblastoma (GBM) is an aggressive and heterogeneous type of cancer, posing challenges in developing effective treatments. Incorporating molecular features into diagnosis has improved categorization of GBM subtypes, revealing subtype-specific vulnerabilities. By integrating gene expression and DNA methylation data, potential vulnerabilities in GBM patients were identified, implicating the AP-1, SMAD3, and RUNX1/RUNX2 pathways in tumor development. Inhibition of these pathways, with or without the chemotherapy agent temozolomide, led to impaired tumor growth, particularly in the aggressive, mesenchymal-like subtype. These findings have implications for personalized therapeutic approaches.
MOLECULAR ONCOLOGY
(2023)
Article
Cell Biology
Estefania Cuesta-Borras, Candida Salvans, Oriol Arques, Irene Chicote, Lorena Ramirez, Laia Cabellos, Jordi Martinez-Quintanilla, Alex Mur-Espinosa, Alejandro Garcia-Alvarez, Jorge Hernando, Juan Ramon Tejedor, Oriol Mirallas, Elena Elez, Mario F. Fraga, Josep Tabernero, Paolo Nuciforo, Jaume Capdevila, Hector G. Palmer, Isabel Puig
Summary: Tumor relapse and chemoresistance are major challenges in cancer therapy. This study reveals that DPPA3 plays a crucial role in promoting slow-cycling and chemoresistant phenotype in colorectal cancer. The study also uncovers a feedback loop between DPPA3 and HIF1a that regulates cell-cycle progression and highlights the potential of downregulating HIF1a to restore chemosensitivity. Furthermore, DPPA3 overexpression is identified as a biomarker for chemotherapeutic resistance in CRC patients.
Article
Oncology
Juan Ramon Tejedor, Alfonso Penarroya, Javier Gancedo-Verdejo, Pablo Santamarina-Ojeda, Raul F. Perez, Sara Lopez-Tamargo, Ana Diez-Borge, Juan J. Alba-Linares, Nerea Gonzalez-del-Rey, Rocio G. Urdinguio, Cristina Mangas, Annalisa Roberti, Virginia Lopez, Teresa Morales-Ruiz, Rafael R. Ariza, Teresa Roldan-Arjona, Monica Meijon, Luis Valledor, Maria Jesus Canal, Daniel Fernandez-Martinez, Maria Fernandez-Hevia, Paula Jimenez-Fonseca, Luis J. Garcia-Florez, Agustin F. Fernandez, Mario F. Fraga
Summary: This study utilized a multi-omics approach to identify gene candidates with strong correlations between DNA methylation and gene expression in human colorectal cancer (CRC) samples and colon cancer cell lines. The researchers used CRISPR-Cas9 epigenome editing tools to modulate the DNA methylation status of 56 promoters previously linked with epigenetic repression in CRC and assessed the functional consequences. Overall, the epigenetic modulation had a mild impact on gene expression reactivation and cancer cell viability, but the reactivation of RSPO2 was associated with impaired cell proliferation in p53(-/-) cancer cell lines.
CLINICAL EPIGENETICS
(2023)