Background: Aberrant methylation of gene promoter region is responsible for inappropriate gene silencing, and it has been associated to initiation and progression of cancer. Aberrant promoter methylation is frequently observed in adult patients with myelodysplastic syndrome (MDS), but in pediatric patients it has been poorly investigated.
Methods: We examined the promoter methylation status of 13 genes in bone marrow cells collected at diagnosis of 21 pediatric patients with MDS (subtype RAEB or RAEB-t). For this analysis, we performed sodium bisulfite treatment of genomic DNA, followed by methylation specific PCR (MSP).
Results: In pediatric MDS samples, we observed two genes frequently methylated: CALCA was methylated in 85.7% (18/21) of the analyzed samples and CDKN2B in 50% (6/12).
Conclusions: Our findings indicate that CALCA and CDKN2B are frequently methylated in pediatric MDS. It suggests that aberrant methylation in pediatric MDS seems to be similar to adult MDS, thus pediatric patients could be also benefited with treatment using demethylating agents.
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http://dx.doi.org/10.1016/j.leukres.2006.06.013 | DOI Listing |
Characterization of tumor epigenetic aberrations is integral to understanding the mechanisms of tumorigenesis and provide diagnostic, prognostic, and predictive information of high clinical relevance. Among the different tumor-associated epigenetic signatures, 5 methyl-cytosine (5mC) and 5-hydroxymethylcytosine (5hmC) are the two most well-characterized DNA methylation alterations linked to cancer pathogenesis. 5hmC has a tissue-specific distribution and its abundance is subjected to changes in tumor DNA, making it a promising biomarker.
View Article and Find Full Text PDFEndocrinology
January 2025
Neuroendocrinology Department, ICMR-National Institute for Research in Reproductive and Child Health, J. M. Street, Parel, Mumbai 400012, India.
Estrogen through its receptors, ERα and ERβ, regulate various aspects of spermatogenesis and male fertility. Since the sperm epigenome is an important contributing factor to male fertility, we evaluated the effects of estrogen signaling activation through the ERs on sperm DNA methylome in adult rats. Whole genome-bisulfite sequencing (WGBS) in caudal sperm DNA was performed.
View Article and Find Full Text PDFInt J Oral Maxillofac Surg
January 2025
Molecular Biology Laboratory, Centre for Cellular and Molecular Research, Saveetha Dental College and Hospitals, Saveetha Institute of Medical and Technical Sciences (SIMATS), Saveetha University, Chennai, India. Electronic address:
Head and neck squamous cell carcinoma (HNSCC) is genetically complex and difficult to treat. Detection in the early stage is challenging, leading to diagnosis at advanced stages with limited treatment options. This study examined the collagen triple helix repeat containing 1 gene (CTHRC1) as a potential biomarker and therapeutic target in HNSCC.
View Article and Find Full Text PDFMol Metab
January 2025
Department of Biological Chemistry, University of California, Irvine School of Medicine. Electronic address:
Objectives: Many cancer cells depend on exogenous methionine for proliferation, whereas non-tumorigenic cells can divide in media supplemented with the metabolic precursor homocysteine. This phenomenon is known as methionine dependence of cancer or methionine addiction. The underlying mechanisms driving this cancer-specific metabolic addiction are poorly understood.
View Article and Find Full Text PDFDiscov Oncol
January 2025
Second Department of Oncology, The Second Hospital of Hebei Medical University, Shijiazhuang, 050000, Hebei, China.
Introduction: We conducted a panoramic analysis of GBN5 expression and prognosis in 33 cancers, aiming to deepen the systematic understanding of GBN5 in cancer.
Materials And Methods: We employed a multi-omics approach, including transcriptomic, genomic, proteomic, single-cell cytomic, spatial transcriptomic, and genomic data, to explore the prognostic value and potential oncogenic mechanisms of GBN5 across pan-cancers from multiple perspectives.
Results: We found that GBN5 was differentially expressed in multiple tumors and showed early diagnostic value.
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