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BACKGROUND Methylation represents the most studied epigenetic modification and results in the silencing of genes involved in various processes such as differentiation and cell-cycle regulation. MEG3 represents an imprinted gene maternally expressed in humans that encodes a nontranslated product. In this survey, we studied the methylation status of the(More)
Methylation is now established as a fundamental regulator of gene transcription. To investigate this in haematologic malignancies, we evaluated the aberrant promoter methylation of two imprinted genes (MEG3 and SNRPN) in 43 MDS and 42 AML patients. MEG3 hypermethylation occurred in 15 MDS patients (34.9%), and in 20 AML patients (47.6%). SNRPN(More)
Polo-like kinase 2 (SNK/PLK2), a transcriptional target for wild-type p53 and is hypermethylated in a high percentage of multiple myeloma and B cell lymphomas patients. Given these data, we sought to study the methylation status of the specific gene in acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS), and to correlate it with clinical and(More)
Genetic alterations in the alpha-synuclein (SNCA) gene have been implicated in Parkinson Disease (PD), including point mutations, gene multiplications, and sequence variations within the promoter. Such alterations may be involved in pathology through structural changes or overexpression of the protein leading to protein aggregation, as well as through(More)
Few studies have examined the association between methylenetetrahydrofolate reductase (MTHFR) SNPs, epigenetic changes, and multiple myeloma (MM). We wished to determine genotype distributions for MTHFR 1298AC SNP in cases of MM and healthy controls and to examine whether there is any correlation between the methylation status of the CpG island of CDKN2A(More)
OBJECTIVE To analyze the methylation status of two differentially inherited and methylated loci (the human androgen receptor [HUMARA] and the small nuclear ribonucleoprotein-associated polypeptide N [SNRPN] gene) in testicular biopsy samples, and to compare the results with microscopic evaluation. DESIGN Retrospective study. SETTING Infertility clinics(More)
EGLN1 and EGLN3 are members of the egg-laying-defective 9 (EglN) prolyl-hydroxylases which during normoxia catalyse hydroxylation of the hypoxia-inducible factor (HIF)-1alpha, thereby promoting its ubiquitination by a complex containing the von Hippel-Lindau (VHL) tumour suppressor. EGLN3 also has pro-apoptotic activity in some cell types. Analyses of a(More)
It has been suggested that during multiple myeloma (MM) progression, a proangiogenesis stress response occurs, but the mechanistic basis of this has not been established. It is an attractive hypothesis that loss of expression of the von Hippel-Lindau (VHL) gene, resulting in constitutive activation of hypoxia-inducible factor-1alpha (HIF-1alpha),(More)
Few studies exist regarding the methylation status of the TP73 CpG island in plasma cell dyscrasias. We have tested whether CpG methylation of both CDKN2A and TP73 occurs in 45 individuals with multiple myeloma (24 male and 21 female, mean age 66.4 years) and in 4 patients (2 male and 2 female, mean age 61.7 years) with Waldenström's macroglobulinemia. No(More)
BIK (bcl2-interacting killer) is the founding member of the BH3-only bcl-2 family of pro-apoptotic proteins, which is suppressed in various cancers. In multiple myeloma (MM), BIK has been shown to be epigenetically silenced in vitro, but there is a lack of clinical data. We investigated the CpG methylation status of the BIK promoter in a well-characterized(More)