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Examination of MGMT as a risk gene for dementia in the Amish.
Alzheimers Dement
December 2024
Departments of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, Ohio, USA.
Introduction: Recently, the O-6-methylguanine-DNA methyltransferase (MGMT) locus was proposed as influencing the risk of Alzheimer's disease (AD) in women who did not carry the apolipoprotein E ε4 allele. We examined an Amish founder population for any influence of genetic variation in and around the MGMT locus on the risk for dementia.
Methods: Genetic association was performed for single nucleotide polymorphisms (SNPs) surrounding the MGMT locus.
[DNA Methylation Profiling in Aneurysm and Comorbid Atherosclerosis of the Ascending Aorta].
Mol Biol (Mosk)
December 2024
Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences, Tomsk, 634050 Russia.
Atherosclerosis and aneurysm of the aorta are relatively common pathological conditions that remain asymptomatic for a long period of time and have life-threatening and disabling complications. DNA methylation profiling in several regions (a dilated area, a nondilated area, and an atherosclerotic plaque) of the ascending aorta was carried out in patients with aortic aneurysm. DNA methylation was analyzed by reduced representation bisulfite sequencing (RRBS).
View Article and Find Full Text PDFGenetic polymorphisms, methylation, and expression levels in the GSTP1 and MGMT genes in urothelial bladder tumors.
Gene
March 2025
State University of Londrina (UEL), Department of General Biology, Center of Biological Sciences, Londrina, PR 86057-970, Brazil. Electronic address:
Background: Alteration in DNA repair and metabolism genes can affect the maintenance of DNA integrity or xenobiotics metabolism, potentially leading to DNA damage accumulation. The present study investigated the association between polymorphisms in Glutathione S-Transferase Pi 1 (GSTP1, rs1695) and O-6-Methylguanine-DNA Methyltransferase (MGMT, rs2308321) genes with urothelial bladder cancer (UBC) susceptibility and prognosis. Furthermore, the methylation patterns of the promoter region of these genes were analyzed in tumor and non-tumor bladder tissues, besides MGMT gene expression in tumor samples.
View Article and Find Full Text PDFMolecular Characterization and Clinical Relevance of MGMT-Silenced Pancreatic Cancer.
Cancer Med
December 2024
Medical Oncology Department, Fondazione IRCCS Istituto Nazionale dei Tumori di Milano, Milan, Italy.
Article Synopsis
- MGMT silencing occurs in about 6-7% of pancreatic cancer (PAC) cases and is more common in tumors with non-ductal histology and KRAS wild type status.
- This silencing is linked to longer overall survival and is associated with fewer KRAS mutations, as well as immune exclusion features.
- The study suggests that MGMT-silenced PACs may respond better to treatments involving alkylating and DNA damaging agents, pointing to the potential for targeted therapy combinations.
Immunophenotypic Profile of Adult Glioblastoma IDH-Wildtype Microenvironment: A Cohort Study.
Cancers (Basel)
November 2024
Nervous System Medical Oncology Department, IRCCS Istituto delle Scienze Neurologiche di Bologna, 40139 Bologna, Italy.
: Glioblastoma -wildtype (GBM -wt) is the most aggressive brain tumor in adults and is characterized by an immunosuppressive microenvironment. Different factors shaping its tumor microenvironment (TME) regulate tumor progression and treatment response. The aim of this study was to characterize the main immunosuppressive elements of the GBM -wt TME.
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