Search results for "hypermethylation"

showing 3 items of 3 documents

Converging endometrial and ovarian tumorigenesis in Lynch syndrome: Shared origin of synchronous carcinomas.

2018

AbstractObjective The diagnosis of carcinoma in both the uterus and the ovary simultaneously is not uncommon and raises the question of synchronous primaries vs. metastatic disease. Targeted sequencing of sporadic synchronous endometrial and ovarian carcinomas has shown that such tumors are clonally related and thus represent metastatic disease from one site to the other. Our purpose was to investigate whether or not the same applies to Lynch syndrome (LS), in which synchronous cancers of the gynecological tract are twice as frequent as in sporadic cases, reflecting inherited defects in DNA mismatch repair (MMR). Methods MMR gene mutation carriers with endometrial or ovarian carcinoma or en…

0301 basic medicineCarcinogenesis3122 CancersEndometrial hyperplasiaGene mutationMismatch repair03 medical and health sciences0302 clinical medicineGermline mutationEndometrial cancerOvarian cancer3123 Gynaecology and paediatricsOvarian carcinomamunasarjasyöpäCarcinomamedicineHumansLynchin oireyhtymäHypermethylationOvarian Neoplasmsbusiness.industryEndometrial cancerObstetrics and Gynecologyta3122medicine.diseaseta3123Colorectal Neoplasms Hereditary NonpolyposisLynch syndrome3. Good healthEndometrial hyperplasiaEndometrial Neoplasmshypermethylationmismatch repairkohdunrungon syöpä030104 developmental biologyLynch syndromeOncology030220 oncology & carcinogenesisCancer researchsyöpätauditFemaleOvarian cancerbusinessendometrial hyperplasiaGynecologic oncology
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Abnormal Hypermethylation at Imprinting Control Regions in Patients with S-Adenosylhomocysteine Hydrolase (AHCY) Deficiency

2016

S-adenosylhomocysteine hydrolase (AHCY) deficiency is a rare autosomal recessive disorder in methionine metabolism caused by mutations in the AHCY gene. Main characteristics are psychomotor delay including delayed myelination and myopathy (hypotonia, absent tendon reflexes etc.) from birth, mostly associated with hypermethioninaemia, elevated serum creatine kinase levels and increased genome wide DNA methylation. The prime function of AHCY is to hydrolyse and efficiently remove S-adenosylhomocysteine, the by-product of transmethylation reactions and one of the most potent methyltransferase inhibitors. In this study, we set out to more specifically characterize DNA methylation changes in blo…

Male0301 basic medicineMethyltransferaselcsh:MedicineArtificial Gene Amplification and ExtensionGlycine N-MethyltransferaseBiochemistryPolymerase Chain Reactionlaw.inventionMethionine0302 clinical medicinelawAmino Acidslcsh:SciencePolymerase chain reactionGeneticsDNA methylationMammalian GenomicsMultidisciplinaryOrganic CompoundsGenomicsMethylationChromatinEnzymes3. Good healthNucleic acidsChemistryPhysical SciencesDNA methylationEpigeneticsFemaleDNA modificationChromatin modificationResearch ArticleChromosome biologyCell biologyAlu elementBiologyResearch and Analysis MethodsGenomic Imprinting03 medical and health sciencesAlu ElementsGeneticsSulfur Containing Amino AcidsHumansRepeated SequencesMolecular Biology TechniquesMolecular BiologyAmino Acid Metabolism Inborn ErrorsGeneBiology and life sciencesOrganic Chemistrylcsh:RChemical CompoundsInfant NewbornProteinsInfantDNAMethyltransferasesCreatineMolecular biologyLong Interspersed Nucleotide Elements030104 developmental biologyDifferentially methylated regionsAnimal GenomicsEnzymologyAHCY ; Hypermethylationlcsh:QGene expressionGenomic imprinting030217 neurology & neurosurgeryDevelopmental BiologyPLOS ONE
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Metilazione del DNA in artrite reumatoide

2005

Lo stato di metilazione del DNA genomico e del gene PTHrP è stato valutato con tecniche molecolari e citogenetiche in artrite reumatoide (AR), patologia autoimmune caratterizzata anche da alta incidenza di linfomi e da ipercalcemia per overespressione del gene PTHrP. La metilazione del DNA, infatti, ha un ruolo critico nello sviluppo delle malattie neoplastiche; il gene PTHrP avendo tre promotori uno dei quali contiene un’isola CpG è un buon candidato per la deregolazione da alterato pattern di metilazione locale. Le indagini sulla metilazione genomica, condotte su DNA estratto da sangue periferico di pazienti e di donatori e amplificato in reazioni di Methylation-Sensitive Arbitrarily Prim…

Settore BIO/18 - Geneticainstead chromosomes of controls were almost uniformly decorated by brilliant grains. Studies on methylation of PTHrP gene promoter 2 performed on five CpG island internal sites using the Methylation-Sensitive Restriction Endonuclease Multiplex (MSREM)-PCR showed that one of the sites nearest the trascription starting point is heavy methylated in a significantly high number of RA patients. Thus RA seems to be characterized by genomewide hypomethylation associated with local hypermethylation like the most part of tumors. This result raises the possibility that susceptibility to lymphomas is related to abnormal DNA methylation levels and suggests the opportunity to evaluate the DNA methylation status in RA patientin fact the demethylating therapies together with diet and life style can act towards an increase of tumor risk. Future studies using a larger number of subjects could confirm these findings.Rheumatoid Arthritis (RA) is a chronic multisystem inflammatory disease characterized by high recurrence of lymphomas as well as hypercalcemia due to PTHrP overexpression. Because of DNA methylation plays a critical role in development of neoplasias we determined in RA patients the global DNA methylation status and local methylation pattern of the CpG island of one of the three promoters of PTHrP gene utilizing molecular and cytogenetic techniques. Investigations performed on DNA from peripheral blood of patients and donors amplified by Methylation-Sensitive Arbitrarily Primed (MeS-AP)-PCR indicated that RA is strongly associated with global DNA hypomethylation. Similarly chromosomal DNA methylation pattern analysis by indirect immunofluorescence technique with anti 5-methylcitosine antibody showed all peripheral lymphocyte metaphases from RA patients with chromosomes weakly fluorescent without discrete grain
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