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Epigenetic dysregulation has been known to be involved in neurodegenerative diseases, including amnestic mild cognitive impairment (MCI). The aim of this study was to investigate the genome-wide DNA methylation analysis, in order to identify epigenetic dysregulation in blood from patients with MCI. Here, we investigated whether epigenetic dysregulation in MCI and whether such an aberration could be detected in blood circulation. Genome-wide bisulfite sequencing targeted 84 million bases covering 3.7 million CpG sites was comparatively analyzed in MCI and control groups. And correlation between DNA methylation and transcriptomic changes was sought. Significant differentially methylated regions (DMRs) distinguishing the MCI and control groups were identified and functionally annotated. Most DMRs specific to MCI were enriched between - 2 kb and + 2 kb of the CpG island start sites located within or near gene promoters. Representative hypo- and hypermethylated DMRs in MCI were confirmed to be correlated to mRNA expression changes with the comparative delta Ct method. DNA methylation aberrations involving metal ion homeostasis, axon growth, inflammasome, and others in this study may be less-invasive, easily measurable blood biomarker candidates for MCI.
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http://dx.doi.org/10.1007/s12031-018-1180-5 | DOI Listing |
J Genet Genomics
September 2025
Institute of Pediatrics, Children's Hospital of Fudan University, and Shanghai Key Laboratory of Medical Epigenetics, International Co-laboratory of Medical Epigenetics and Metabolism, Ministry of Science and Technology, Institutes of Biomedical Sciences, Fudan University, Shanghai 200032, China; Sh
Chromodomain helicase DNA binding protein 7 (CHD7), an ATP-dependent chromatin remodeler, plays versatile roles in neurodevelopment. However, the functional significance of its ATPase/nucleosome remodeling activity remains incompletely understood. Here, we generate genetically engineered mouse embryonic stem cell lines harboring either an inducible Chd7 knockout or an ATPase-deficient missense variant identified in individuals with CHD7-related disorders.
View Article and Find Full Text PDFInt J Biol Macromol
September 2025
Faculty of Applied Sciences, Macao Polytechnic University, Macao. Electronic address:
Osteosarcoma (OS), the most prevalent primary bone malignancy in adolescents, is characterized by aggressive progression and early metastasis. However, the epigenetic drivers of its metastatic heterogeneity remain poorly understood. Herein, we integrated bulk DNA methylation profiling and single-cell RNA sequencing (scRNA-seq) to elucidate the epigenetic mechanisms driving OS metastatic heterogeneity.
View Article and Find Full Text PDFMol Psychiatry
September 2025
Institute of Neurology, Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, 610054, China.
Alzheimer's disease (AD), a leading cause of dementia, represents a critical unmet global medical need. While the precise mechanisms underlying AD pathogenesis remain elusive, increasing evidence underscores the pivotal role of neuroinflammation in driving cognitive impairment. N6-methyladenosine (m6A), an epigenetic modification regulating RNA metabolism, has been found to be dysregulated in AD.
View Article and Find Full Text PDFJ Biol Chem
September 2025
Graduate School of Agricultural and Life Sciences, The University of Tokyo, Tokyo, Japan. Electronic address:
Posttranslational modifications (PTMs) of proteins are efficient biological mechanisms for expanding the genetic code and for regulating cellular physiology. However, there have been no systematic approaches to profile all the PTMs critical for autoreactive neoantigen production or the etiology and pathology of autoimmune diseases. In the present study, to gain insight into protein PTMs associated with systemic lupus erythematosus (SLE), we applied a mass spectrometry-based method for the comprehensive analysis of modified amino acids ("adductome").
View Article and Find Full Text PDFCancer Genet
August 2025
National Institute of Immunology, Aruna Asaf Ali Marg, New Delhi, India. Electronic address:
Cancer is a complex and heterogeneous disease characterized by the accumulation of genetic and epigenetic alterations that drive uncontrolled cellular proliferation and survival. This review provides a comprehensive overview of key cancer driver genes, including oncogenes such as KRAS and PIK3CA, as well as tumor suppressor genes like TP53, PTEN, and CDKN2A, highlighting their molecular mechanisms and roles across various types of cancer. Leveraging insights from large-scale cancer genome initiatives and whole-genome sequencing, we examine the landscape of somatic mutations and their association with hallmark cancer pathways, including cell cycle regulation, apoptosis, metabolic reprogramming, and immune evasion.
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