Review
Oncology
Francisco Gimeno-Valiente, Gerardo Lopez-Rodas, Josefa Castillo, Luis Franco
Summary: This review focuses on the interconnections between epigenetics and alternative splicing in the development of cancer. It discusses the mechanisms involved in these interconnections and the potential diagnostic and therapeutic tools that can be derived from them. The reversible nature of epigenetic alterations and the possibility of correcting aberrant alternative splicing offer promising therapeutic possibilities for cancer treatment.
Review
Plant Sciences
Kajal Samantara, Aalok Shiv, Lorenna Lopes de Sousa, Karansher Singh Sandhu, Parichita Priyadarshini, Sourav Ranjan Mohapatra
Summary: Epigenetics is an important mechanism that can help plants cope with various stressors by altering gene expression without involving changes in DNA sequences. It provides diversity to aid plants in responding to the impacts of climate change.
ENVIRONMENTAL AND EXPERIMENTAL BOTANY
(2021)
Review
Pharmacology & Pharmacy
Roberta Giordo, Anna Maria Posadino, Arduino Aleksander Mangoni, Gianfranco Pintus
Summary: An intricate interplay between genetic and environmental factors contributes to the development of type 2 diabetes (T2D) and its complications. Metformin, a derivative of biguanide, exerts pleiotropic effects through multiple epigenetic modifications, which are reported in various organs, tissues, and cellular compartments. This review discusses the emerging evidence regarding metformin-mediated epigenetic modifications, their significance, potential applications, and future research directions.
BIOCHEMICAL PHARMACOLOGY
(2023)
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
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
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)
Article
Cell Biology
Yoshitaka Kubota, Hidekazu Nagano, Kentaro Kosaka, Hideyuki Ogata, Akitoshi Nakayama, Masataka Yokoyama, Kazutaka Murata, Shinsuke Akita, Motone Kuriyama, Nobutaka Furuyama, Masayuki Kuroda, Tomoaki Tanaka, Nobuyuki Mitsukawa
Summary: Ceiling culture-derived preadipocytes (ccdPAs) and adipose-derived stem cells (ASCs) were isolated from human subcutaneous fat tissue and showed differences in adipogenic potential due to variations in methylation and histone modification levels of adipogenesis-related genes, such as PPARc, fatty acid-binding protein 4, and leptin. Genomewide epigenetic analysis revealed distinct patterns in CpG methylation and H3K4me3 modification between ccdPAs and ASCs, suggesting epigenetic mechanisms underlying adipogenic differentiation capabilities of these cell types.
AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY
(2021)
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
Oncology
Riya Su, Xinlin Wu, Liang Tao, Changshan Wang
Summary: Distant metastasis is the main cause of the high mortality rate in colorectal cancer (CRC). Research has found that some epigenetic enzymes are often dysregulated or mutated in multiple tumor types, prompting us to study their roles in CRC metastasis. Existing data suggests that targeting epigenetic enzymes is a promising strategy for treating CRC metastasis.
CLINICAL & EXPERIMENTAL METASTASIS
(2022)
Article
Biochemistry & Molecular Biology
Zihang Huang, Shuai Song, Xiaokai Zhang, Linqi Zeng, Aijun Sun, Junbo Ge
Summary: This review summarizes the impact of cardiac metabolism disorder on histone modifications and gene expression, as well as the dual role of metabolic substrates in regulating cardiac hypertrophy. The article suggests the therapeutic supplementation of metabolic substrates as a potential approach to restore histone modifications.
BIOCHIMICA ET BIOPHYSICA ACTA-GENE REGULATORY MECHANISMS
(2023)
Review
Pharmacology & Pharmacy
Soorya P. Illam, Sruthi P. Kandiyil, Achuthan C. Raghavamenon
Summary: Epigenetic mechanisms, such as DNA methylation and histone modifications, regulate gene expression and play important roles in normal growth and metabolism. Aberrant histone modifications are linked to pathological conditions and have been a focus of research. Nutri-epigenetics explores the influence of dietary compounds on epigenetics.
CURRENT DRUG TARGETS
(2021)
Review
Biochemistry & Molecular Biology
Futaba Inoue, Kenbun Sone, Yusuke Toyohara, Yu Takahashi, Asako Kukita, Aki Hara, Ayumi Taguchi, Michihiro Tanikawa, Tetsushi Tsuruga, Yutaka Osuga
Summary: Epigenetic changes play a crucial role in endometrial cancer, including DNA methylation and histone modification. There are currently inhibitors targeting epigenetic regulators in preclinical studies and clinical trials.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Oncology
Jiaxin Liu, Jia-nan Li, Hongyu Wu, Panpan Liu
Summary: Epigenetic regulation plays a crucial role in lymphoma development and is closely associated with various malignancies. Understanding these epigenetic mechanisms can guide the development of clinical treatments.
FRONTIERS IN ONCOLOGY
(2022)
Review
Biochemistry & Molecular Biology
Young-Su Yi
Summary: Inflammasome, activated in response to infection and damage, triggers inflammatory responses, while methylation, a critical biological process, modulates gene expression. The functional relationship between inflammasome regulation and methylation may play a key role in inflammatory responses and disease development.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Cell Biology
Dipanwita Das, Nandini Karthik, Reshma Taneja
Summary: Inflammation is a crucial immune response against infection and tissue damage, but chronic inflammation is linked to cancer development. Immune cells produce inflammatory mediators to facilitate tumor growth, while aberrant expression of inflammatory factors by tumor cells recruits immune cells for mutual crosstalk, creating a conducive environment for tumor growth.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Biotechnology & Applied Microbiology
Alex Di Genova, Gino Nardocci, Rodrigo Maldonado-Agurto, Christian Hodar, Camilo Valdivieso, Pamela Morales, Felipe Gajardo, Raquel Marina, Rodrigo A. Gutierrez, Ariel Orellana, Veronica Cambiazo, Mauricio Gonzalez, Alvaro Glavic, Marco A. Mendez, Alejandro Maass, Miguel L. Allende, Martin A. Montecino
Summary: The study on Orestias ascotanensis from the Chilean Altiplano reveals a genomic evolution process involving gene contraction and expansion, particularly in genes related to genome stability and DNA repair under positive selection to cope with high-altitude aquatic environments.
Article
Multidisciplinary Sciences
Rodrigo Aguilar, Kerrie B. Spencer, Barry Kesner, Noreen F. Rizvi, Maulik D. Badmalia, Tyler Mrozowich, Jonathan D. Mortison, Carlos Rivera, Graham F. Smith, Julja Burchard, Peter J. Dandliker, Trushar R. Patel, Elliott B. Nickbarg, Jeannie T. Lee
Summary: More and more diseases are now being attributed to non-coding RNA, which could be systematically targeted by drug-like compounds to disrupt RNA structure and epigenetic function.
Article
Neurosciences
Cristian Arredondo, Carolina Cefaliello, Agnieszka Dyrda, Nur Jury, Pablo Martinez, Ivan Diaz, Armando Amaro, Helene Tran, Danna Morales, Maria Pertusa, Lorelei Stoica, Elsa Fritz, Daniela Corvalan, Sebastian Abarzua, Maxs Mendez-Ruette, Paola Fernandez, Fabiola Rojas, Meenakshi Sundaram Kumar, Rodrigo Aguilar, Sandra Almeida, Alexandra Weiss, Fernando J. Bustos, Fernando Gonzalez-Nilo, Carolina Otero, Maria Florencia Tevy, Daryl A. Bosco, Juan C. Saez, Thilo Kahne, Fen-Biao Gao, James D. Berry, Katharine Nicholson, Miguel Sena-Esteves, Rodolfo Madrid, Diego Varela, Martin Montecino, Robert H. Brown, Brigitte van Zundert
Summary: Non-cell-autonomous mechanisms, specifically the release of unidentified toxic factors by astrocytes, contribute to the neurodegenerative diseases ALS and FTD. Studies found that astrocytes with ALS/FTD-related mutations display elevated levels of intracellular inorganic polyphosphate (polyP), which is also present in astrocyte-conditioned media (ACM). Degradation or neutralization of polyP in ALS/FTD astrocytes or ACM prevents the death of motoneurons. Additionally, polyP staining signals are enriched in postmortem ALS spinal cord sections and ALS cerebrospinal fluid (CSF) exhibits increased concentrations of polyP, suggesting polyP as a potential therapeutic target and biomarker for ALS/FTD.
Editorial Material
Oncology
Patrick A. Williams, Sayyed Kaleem Zaidi, Rajarshi Sengupta
CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION
(2022)
Article
Cell Biology
Glauben Landskron, Karen Dubois-Camacho, Octavio Orellana-Serradell, Marjorie De la Fuente, Daniela Parada-Venegas, Mirit Bitran, David Diaz-Jimenez, Shuang Tang, John A. Cidlowski, Xiaoling Li, Hector Molina, Carlos M. Gonzalez, Daniela Simian, Jaime Lubascher, Victor Pola, Martin Montecino, Tjasso Blokzijl, Klaas Nico Faber, Maria-Julieta Gonzalez, Rodrigo Quera, Marcela A. Hermoso
Summary: This study investigates the relationship between LRH-1 expression and distribution with altered corticosteroid responses in ulcerative colitis (UC) patients. It is found that reduced glucocorticoid receptor (GR)-mediated intestinal steroidogenesis may be related to increased colonic mucosa GR isoform beta (GR beta) content and cytoplasmic LRH-1 levels. The study also suggests LRH-1 as a potential marker for glucocorticoid-impaired response in UC.
Review
Biochemistry & Molecular Biology
Brigitte van Zundert, Martin Montecino
Summary: This article provides an overview of the role of chromatin organization and specific epigenetic mechanisms in the control of gene transcription in neural cells of healthy mice. It also discusses how changes in the epigenome and chromatin architecture contribute to transcriptional dysregulation in Alzheimer's disease. Additionally, potential new therapeutic strategies involving epigenetic editing and small chromatin-modifying molecules are discussed.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Genetics & Heredity
Parisa Dashti, Jeroen van de Peppel, Roman Thaler, Christopher R. Paradise, Gary S. Stein, Martin A. Montecino, Johannes P. T. M. van Leeuwen, Bram J. van der Eerden, Amel Dudakovic, Andre J. van Wijnen
Summary: This study found that Smyd2 inhibits proliferation and mineral deposition by osteoblasts, and operates parallel to the suppressive effects of Ezh2 and H3K27 trimethylation on osteoblast differentiation.
Article
Biochemistry & Molecular Biology
Beatriz Andrea Otalora-Otalora, Cristian Gonzalez Prieto, Lucia Guerrero, Camila Bernal-Forigua, Martin Montecino, Alejandra Canas, Liliana Lopez-Kleine, Adriana Rojas
Summary: The use of a new bioinformatics pipeline identified deregulated transcription factors in lung cancer, with RUNX2 potentially playing a key role in the gene regulatory network. Experimental validation of RUNX2's regulatory function could lead to its use as a biomarker for diagnostic tools and specific treatments against lung tumoral diseases.
Article
Biochemistry & Molecular Biology
Hun-Goo Lee, Sachiko Imaichi, Elizabeth Kraeutler, Rodrigo Aguilar, Yong-Woo Lee, Steven D. Sheridan, Jeannie T. Lee
Summary: In this article, we describe an approach to correct the genetic defect in fragile X syndrome (FXS) through the recruitment of endogenous repair mechanisms. By investigating conditions favorable to FMR1 reactivation, we identify MEK and BRAF inhibitors that induce a strong repeat contraction and full FMR1 reactivation in cellular models. This study reveals a potential method of treating FXS in the future by recruiting endogenous DNA repair mechanisms.
Editorial Material
Oncology
Patrick A. Williams, Sayyed Kaleem Zaidi, Rajarshi Sengupta
CLINICAL CANCER RESEARCH
(2023)
Article
Biochemistry & Molecular Biology
Felipe Arratia, Cristopher Fierro, Alejandro Blanco, Sebastian Fuentes, Daniela Nahuelquen, Martin Montecino, Adriana Rojas, Rodrigo Aguilar
Summary: In cancer cells, the lncRNA MALAT1 collaborates with the epigenetic modifier PRC2. Through genomic binding analysis, 1293 genomic sites were identified where PRC2 and MALAT1 concur, with the majority being within gene promoter regions. These findings indicate that MALAT1 and PRC2 can bind together to actively-transcribed genes in cancer cells, controlling a subset of genes related to cancer malignancy and epigenetic regulation.
CURRENT ISSUES IN MOLECULAR BIOLOGY
(2023)
Article
Biology
Sanae Kobayashi, Jonathan Maldonado, Alexis Gaete, Ingrid Araya, Constanza Aguado-Norese, Nicolas Cumplido, Sebastian Diaz, Alonso Espinoza, Edelmira Fernandez, Felipe Gajardo, Felipe Gonzalez-Ordenes, Khantati Hauyon, Piedad Maldonado, Rodrigo Maldonado, Isabel Pochet, Anibal Riveros, Paula Sandoval, Ailynne Sepulveda-Gonzalez, Camila Stuardo, Patricio Tapia-Reyes, Carolina Thornton, Soledad Undurraga, Macarena A. Varas, Camilo Valdivieso, Rodrigo A. Gutierrez, Ariel Orellana, Martin L. Montecino, Alejandro Maass, Mauricio Gonzalez, Miguel Allende, Christian Hodar, Paula Irles
Summary: Despite being the largest fraction of animal life, there are only a few hundred insect species whose genomes have been sequenced. The earwigs, as one of the basally derived insect groups and with its importance in agroecosystems, have lacked genomic information. However, a project was successfully carried out by engaging high school students from twelve schools in Chile to collect earwig specimens, extract genomic DNA, and perform genome sequencing using nanopore sequencers.
BIOLOGICAL RESEARCH
(2023)
Article
Biochemistry & Molecular Biology
Gisella Bermudez, Camila Bernal, Andrea Otalora, Paula Sanchez, Gino Nardocci, Alejandra Canas, Liliana Lopez-Kleine, Martin Montecino, Adriana Rojas
Summary: In this study, we identified TALAM1 as a genetic target of the RUNX2 transcription factor in lung cancer and confirmed the negative regulatory effect of RUNX2 on TALAM1 expression.
CURRENT ISSUES IN MOLECULAR BIOLOGY
(2023)
Review
Endocrinology & Metabolism
Jemima E. Schadow, David Maxey, Toby O. Smith, Mikko A. J. Finnila, Sarah L. Manske, Neil A. Segal, Andy Kin On Wong, Rachel A. Davey, Tom Turmezei, Kathryn S. Stok
Summary: This study systematically reviewed the published parameters for assessing subchondral bone in human osteoarthritis using computed tomography. The study identified clinically meaningful parameter categories and emphasized the importance of quantification and standardized measurement methods for improving the evaluation of disease progression.
Article
Endocrinology & Metabolism
Lindsay L. Loundagin, Kim D. Harrison, Xuan Wei, David M. L. Cooper
Summary: This study developed new techniques to define zones of BMU activity based on the 3D morphology of remodeling spaces in rabbit cortical bone and integrated morphological data with the BMU longitudinal erosion rate (LER) to elucidate the spatial-temporal coordination of BMUs and estimate mineral apposition rate (MAR). The results showed that the manual and semi-automated methods accurately defined the zones of remodeling spaces, and these techniques have the potential to assess dynamic parameters of bone resorption and formation.
Article
Endocrinology & Metabolism
Soroush Masrouri, Farzad Esmaeili, Maryam Tohidi, Fereidoun Azizi, Farzad Hadaegh
Summary: This study examined the association between estimated glomerular filtration rate (eGFR) decline and fracture incidence. The results showed that rapid kidney function decline (RKFD) can increase the incidence of fractures among the general population.
Article
Endocrinology & Metabolism
Steven J. Meas, Gabriella M. Daire, Michael A. Friedman, Rachel Denapoli, Preetam Ghosh, Joshua N. Farr, Henry J. Donahue
Summary: Age- and disuse-related bone loss both lead to decreases in bone mineral density, cortical thickness, and trabecular thickness and connectivity. It is important to experimentally compare these two mechanisms at a structural and transcriptomic level to better understand their similarities and differences. This study compares the effects of hindlimb unloading and aging on bone microarchitecture and gene expression in mice, finding that while both induce similar changes, aging has a greater impact on the transcriptome and tissue level.
Correction
Endocrinology & Metabolism
Masaru Matsuoka, Sho Tsukamoto, Yuta Orihara, Rieko Kawamura, Mai Kuratani, Nobuhiko Haga, Kenji Ikebuchi, Takenobu Katagiri
Article
Endocrinology & Metabolism
Rachel Kohler, Amy Creecy, David R. Williams, Matthew R. Allen, Joseph M. Wallace
Summary: Osteogenesis imperfecta is a hereditary bone disease that weakens bones and increase fracture risk. Current interventions mainly focus on increasing bone mass, but the compromised tissue-level material properties are not addressed. A study found that a RAL analog could reduce fracture risk, but further development is needed for optimal results in patients with osteogenesis imperfecta.
Article
Endocrinology & Metabolism
So Jeong Park, Eunhye Ji, Hyun Ju Yoo, Kyunggon Kim, Sunghwan Ji, Ji Yeon Baek, Jin Young Lee, Hee-Won Jung, Il-Young Jang, Eunju Lee, Namki Hong, Beom-Jun Kim
Summary: The study analyzed the relationship between serum lumican levels and osteosarcopenia in older adults, showing that older adults with osteosarcopenia had lower serum lumican levels. Lower serum lumican levels were associated with reduced bone mass and grip strength, indicating that lumican levels could be used as a biomarker for assessing the risk of osteosarcopenia, osteoporosis, or sarcopenia in older adults.
Article
Endocrinology & Metabolism
Michael B. Chavez, Michelle H. Tan, Tamara N. Kolli, Natalie L. Andras, Brian L. Foster
Summary: This study revealed the complex mechanisms by which disabling BSP functional domains led to profound and distinct changes in cementoblast cell functions, including dysregulated gene expression and reduced mineralization.
Article
Endocrinology & Metabolism
Julien Seiller, Blandine Merle, Romain Fort, Emilie Virot, Solene Poutrel, Giovanna Cannas, Arnaud Hot, Roland Chapurlat
Summary: The purpose of this study was to assess the prevalence of bone fragility in sickle cell patients and to evaluate the potential risk factors and associated complications.
Article
Endocrinology & Metabolism
Chirantap Oza, Anuradha Khadilkar, Pranay Goel, Madhura Karguppikar, Nikhil Shah, Nikhil Lohiya, Shruti Mondkar, Prashant Patil, Hemchand Prasad, Ankita Maheshwari, Dipali Ladkat, Neha Kajale, Chidvilas More, Devarati Khurjekar, Vaman Khadilkar
Summary: This study revealed that BoneXpert (BX) can be used for accurate assessment of bone age and screening of bone health in Indian children and youth with type-1 diabetes (T1D). 51.5% of T1D subjects showed significantly decreased metacarpal index (MCI). Height, Tanner stage, and vitamin D concentrations were positively correlated with MCI, while HbA1c and disease duration were negatively correlated with MCI.
Article
Endocrinology & Metabolism
Mariam R. Farman, Catherine Rehder, Theodora Malli, Cheryl Rockman-Greenberg, Kathryn Dahir, Gabriel Angel Martos-Moreno, Agnes Linglart, Keiichi Ozono, Lothar Seefried, Guillermo del Angel, Gerald Webersinke, Francesca Barbazza, Lisa K. John, Sewmi M. A. Delana Mudiyanselage, Florian Hoegler, Erica Burner Nading, Erin Huggins, Eric T. Rush, Ahmed El-Gazzar, Priya S. Kishnani, Wolfgang Hoegler
Summary: The ALPL gene variant database serves as an archive for interpreting the clinical significance of ALPL gene variants, facilitating the reclassification of VUS and continuous updates. The project establishes an international expert consortium, providing a multidisciplinary collaboration framework to improve genetic counseling and medical decision-making for HPP patients.
Article
Endocrinology & Metabolism
Giovanni Adami, Davide Gatti, Maurizio Rossini, Alessandro Giollo, Matteo Gatti, Francesco Bertoldo, Eugenia Bertoldo, Amy S. Mudano, Kenneth G. Saag, Ombretta Viapiana, Angelo Fassio
Summary: Certain diseases requiring glucocorticoids are independently associated with an increased risk of fractures. Chronic obstructive pulmonary disease (COPD) and neurological diseases are associated with both vertebral and non-vertebral fracture risk, while rheumatoid arthritis (RA) and inflammatory bowel disease (IBD) are only associated with non-vertebral fractures.
Article
Endocrinology & Metabolism
Frank C. Ko, Rong Xie, Brandon Willis, Zoe G. Herdman, Bryan A. Dulion, Hoomin Lee, Chun-do Oh, Di Chen, D. Rick Sumner
Summary: Intramembranous bone regeneration is important in joint and tooth replacement, but its underlying mechanisms are not well understood. This study found that increased periostin gene expression preceded increases in osteogenic genes during bone regeneration. Using a genetic mouse model, the researchers discovered that cells transiently expressing periostin played a critical role in intramedullary intramembranous bone regeneration.
Article
Endocrinology & Metabolism
T. Savikangas, T. H. Suominen, M. Alen, T. Rantalainen, S. Sipila
Summary: Regular exercise, especially high-intensity physical activity, can help slow down age-related bone loss and prevent a decline in femoral neck bone mineral density.
Article
Endocrinology & Metabolism
Mishaela R. Rubin, Ruban Dhaliwal
Summary: The increased risk of fractures observed in adults with type 1 diabetes (T1D) cannot be solely explained by modest decreases in areal bone mineral density (BMD). Accumulation of advanced glycation endproducts (AGEs) in bone has been suggested as a possible cause for the increased bone fragility in diabetes. Although the evidence linking AGEs and fractures in individuals with T1D is limited, recent data show that AGEs, as measured by skin intrinsic fluorescence, are a risk factor for lower BMD in T1D. Further research is needed to determine if there is a causal relationship between fractures and AGEs in T1D. If confirmed, this could lead to interventions that can reduce AGE accumulation and ultimately reduce fractures in T1D patients.
