Article
Oncology
Xiao Yan, Binbin Lai, Xuyan Zhou, Shujun Yang, Qunfang Ge, Miao Zhou, Cong Shi, Zhijuan Xu, Guifang Ouyang
Summary: CD47 expression and function were analyzed in MDS, AML, and other tumors, revealing differential expression in MDS and AML. CD47 was found to be associated with immune response, cell growth, and DNA methylation in the evolution of MDS to AML. Additionally, CD47 has a relationship with other tumors through DNA methyltransferase, TMB, MSI, and tumor cell stemness.
FRONTIERS IN ONCOLOGY
(2022)
Letter
Cell & Tissue Engineering
Hongbo Zhu, Guangjia Feng, Na Zhao, Lei Wu, Zhiguo Long
Summary: This study analyzed the variants and DNA methylation patterns of cfDNA in patients with MDS and found that HRM had more SNPs and variants affecting amino acid sequences compared to LRM and the control group. HRM also showed higher levels of global DNA methylation on non-CpG sites. Candidate genes with specific variants and abnormal methylation were identified as potential biomarkers for diagnosing HRM and LRM.
CELL TRANSPLANTATION
(2022)
Review
Biochemistry & Molecular Biology
Bartlomiej Kuszczak, Tomasz Wrobel, Katarzyna Wicherska-Pawlowska, Justyna Rybka
Summary: Myelodysplastic syndromes (MDSs) belong to a group of clonal bone marrow malignancies. The study of BCL-2 and PD-1 proteins and their ligands contributes significantly to the understanding of the pathogenesis of MDSs. Disruptions in the interactions of BCL-2 family proteins promote the progression and resistance of MDSs, making them important targets for specific drugs.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Pathology
Dahai Wang, Miao Lin, Begum Utz, Amma Bosompem, Yan Guo, Yahya Daneshbod, Catherine E. Alford, Sabin A. Nettles, Jonathan Scher, Emma Y. Gagne, Maria O'Neill, Lia Barrow, Natalia Wojciechowska, Joshua Keegan, Claudio A. Mosse, James A. Lederer, Annette S. Kim
Summary: A model mimicking MDS was created through stable knockdown of miR-378-3p, showing characteristics of MDS such as aberrant transcriptional profile, immunophenotypic and morphologic dysplasia. Aberrant signaling, cellular growth, and colony formation ability in this model could be reversed with aza-cytidine, without significant improvement in neutrophil function.
AMERICAN JOURNAL OF PATHOLOGY
(2021)
Review
Biochemistry & Molecular Biology
Argiris Symeonidis, Theodora Chatzilygeroudi, Vasiliki Chondrou, Argyro Sgourou
Summary: Myelodysplastic syndromes (MDS) are a group of hematopoietic stem cell disorders characterized by dysplasia and increased risk for acute myelogenous leukemia. Age-related epigenetic instability and DNA methylation maintenance play critical roles in the pathogenesis and progression of MDS. Epigenetic modifications regulate gene expression and drug response, providing potential avenues for treatment development.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Medicine, General & Internal
Hideaki Nakajima
Summary: Myelodysplastic syndromes (MDS) are clonal hematological disorders characterized by genetic abnormalities in hematopoietic stem cells. The genomic landscape revealed by next-generation sequencing has identified various mutational targets in MDS, driving the initiation and progression of the disease. Novel agents targeting these driver mutations are currently in development to improve the clinical outcomes of MDS.
Review
Oncology
Sabine Blum, Gerasimos Tsilimidos, Helena Bresser, Michael Luebbert
Summary: Myelodysplasic syndromes (MDS) mainly occur in the elderly population, and most patients are too old or frail for intensive treatment. The current gold standard is treatment with hypomethylating agents, but the combination of hypomethylating agents with venetoclax has become the new gold standard for elderly and frail patients unable to undergo intensive treatment.
INTERNATIONAL JOURNAL OF CANCER
(2023)
Review
Cell Biology
Xiaomin Ma, Xin Wang, Guangbing Zheng, Guiqin Tan, Fangyu Zhou, Wenwen Wei, Dan Tian, Hongsong Yu
Summary: Behçet's disease is a chronic multisystem autoimmune disease with complex pathogenesis involving genetics, environmental factors, and gut microbiota. Previous studies have indicated that external environmental factors and abnormalities in epigenetic modification may impact the development of BD.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Review
Biochemistry & Molecular Biology
Kajetan Kielbowski, Mariola Herian, Estera Bakinowska, Boleslaw Banach, Tomasz Sroczynski, Andrzej Pawlik
Summary: Osteoarthritis (OA) is a progressive disease characterized by cartilage degradation, subchondral bone remodelling, and inflammation of the synovium. The disease is associated with obesity, mechanical load, and age. Multiple pro-inflammatory immune mediators regulate the expression of metalloproteinases involved in cartilage degradation. In addition, genetic factors and epigenetic mechanisms play a role in the susceptibility and pathogenesis of OA.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Hematology
Nicholas J. Short, Hagop Kantarjian
Summary: Azacitidine and decitabine, as hypomethylating agents, have dose-dependent epigenetic and cytotoxic effects and are widely used in the treatment of MDS and AML. This review discusses the regulatory approval process of these drugs, highlighting the efforts to optimize dosing schedule and administration, including the development of new oral formulations. The review also explores novel combination strategies and efforts to expand the indications of these agents through ongoing clinical trials.
AMERICAN JOURNAL OF HEMATOLOGY
(2022)
Article
Oncology
Jing-dong Zhou, Zi-jun Xu, Ye Jin, Xin-long Zhang, Yu Gu, Ji-chun Ma, Xiang-mei Wen, Jiang Lin, Ting-juan Zhang, Jun Qian
Summary: This study identified novel epigenetic alterations such as DLEU7, FOXR1, LEP, and PANX2 methylations as frequent events in MDS through whole-genome DNA methylation analysis. LEP hypermethylation was associated with longer survival but not as an independent prognostic biomarker in MDS.
FRONTIERS IN ONCOLOGY
(2022)
Review
Medicine, General & Internal
Mikkael A. Sekeres, Justin Taylor
Summary: MDS is a hematopoietic malignancy with bone marrow dysplasia and decreased blood cell numbers. Treatment varies based on disease characteristics, from supportive care to hypomethylating agents for high-risk patients. Hematopoietic cell transplantation is potentially curative for high-risk MDS.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
(2022)
Review
Dermatology
L. Nussbaum, Y. L. Chen, G. S. Ogg
Summary: Psoriasis is a chronic inflammatory disease with a strong genetic component that can be triggered by environmental factors. Tregs play a fundamental role in immune homeostasis and contribute to the prevention of autoimmune disease by suppressing immune responses, but their functional regulation remains unclear in the context of psoriasis.
BRITISH JOURNAL OF DERMATOLOGY
(2021)
Review
Endocrinology & Metabolism
Yan Wang, Xiao-Min Ma, Xin Wang, Xin Sun, Ling-Jun Wang, Xin-Qi Li, Xiao-Yan Liu, Hong-Song Yu
Summary: Graves' Ophthalmopathy (GO) is a common organ-specific autoimmune disease, and abnormal epigenetic modifications and gut microbiome may play important roles in its development.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Review
Oncology
M. Hornschuh, E. Wirthgen, M. Wolfien, K. P. Singh, O. Wolkenhauer, J. Daebritz
Summary: Epigenetics plays a crucial role in inflammatory bowel diseases, particularly in Crohn's disease, which is believed to be a result of a complex interplay between genetic susceptibility, environmental factors, and altered intestinal microbiota. While many genetic variants have been associated with Crohn's disease, the influence of epigenetics in its pathogenesis remains relatively unknown.
CLINICAL EPIGENETICS
(2021)