Search results for "TELOMERES"

showing 10 items of 29 documents

Inhibition of DNA damage response at telomeres improves the detrimental phenotypes of Hutchinson–Gilford Progeria Syndrome

2019

Hutchinson–Gilford progeria syndrome (HGPS) is a genetic disorder characterized by premature aging features. Cells from HGPS patients express progerin, a truncated form of Lamin A, which perturbs cellular homeostasis leading to nuclear shape alterations, genome instability, heterochromatin loss, telomere dysfunction and premature entry into cellular senescence. Recently, we reported that telomere dysfunction induces the transcription of telomeric non-coding RNAs (tncRNAs) which control the DNA damage response (DDR) at dysfunctional telomeres. Here we show that progerin-induced telomere dysfunction induces the transcription of tncRNAs. Their functional inhibition by sequence-specific telomer…

0301 basic medicineGenome instabilityRNA UntranslatedDNA RepairGeneral Physics and AstronomyCellular homeostasisAntisense oligonucleotide therapyMice0302 clinical medicineProgeriaHomeostasislcsh:ScienceCellular SenescenceSkinProgeriaMultidisciplinaryintegumentary systemQTelomereProgerinLamin Type A3. Good healthCell biologyTelomeresPhenotypePremature agingcongenital hereditary and neonatal diseases and abnormalitiesDNA repairScienceDouble-strand DNA breaksBiologySettore MED/08 - Anatomia PatologicaGeneral Biochemistry Genetics and Molecular BiologyArticleCell Line03 medical and health sciencesmedicineDNA damage Hutchinson-Gilford Progeria SyndromeAnimalsCell Proliferationnutritional and metabolic diseasesGeneral ChemistryOligonucleotides Antisensemedicine.diseaseTelomereDisease Models Animal030104 developmental biologyMutationlcsh:Q030217 neurology & neurosurgeryLaminDNA DamageNature Communications
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The genetic architecture of low-temperature adaptation in the wine yeast Saccharomyces cerevisiae

2017

[Background] Low-temperature growth and fermentation of wine yeast can enhance wine aroma and make them highly desirable traits for the industry. Elucidating response to cold in Saccharomyces cerevisiae is, therefore, of paramount importance to select or genetically improve new wine strains. As most enological traits of industrial importance in yeasts, adaptation to low temperature is a polygenic trait regulated by many interacting loci.

0301 basic medicineQuantitative trait lociGenotype030106 microbiologyAroma of wineSaccharomyces cerevisiaeSaccharomyces cerevisiaeQuantitative trait locusBiologyEvolution Molecular03 medical and health sciencesQuantitative Trait HeritableGene FrequencyStress PhysiologicalGene Expression Regulation FungalGenetic variationGeneticsSubtelomeresAllelesGenetic Association StudiesPhylogenyGeneticsWineReciprocal hemizygosity analysisCold adaptationdigestive oral and skin physiologyChromosome Mappingfood and beveragesGenomicsbiology.organism_classificationAdaptation PhysiologicalIndustrial yeastGenetic architectureCold TemperatureYeast in winemaking030104 developmental biologyPhenotypeLipid asymmetryFermentationAdaptationGenome FungalResearch ArticleBiotechnology
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Telomeres and telomerase in risk assessment of cardiovascular diseases

2020

Telomeres are repetitive nucleoprotein structures located at the ends of chromosomes. Reduction in the number of repetitions causes cell senescence. Cells with high proliferative potential age with each replication cycle. Post- mitotic cells (e.g. cardiovascular cells) have a different aging mechanism. During the aging of cardiovascular system cells, permanent DNA damage occurs in the telomeric regions caused by mitochondrial dysfunction, which is a phenomenon independent of cell proliferation and telomere length. Mitochondrial dysfunction is accompanied by increased production of reactive oxygen species and development of inflammation. This phe-nomenon in the cells of blood vessels can lea…

0301 basic medicineSenescenceTelomeraseDNA damageCellInflammationBiologySenescence03 medical and health sciences0302 clinical medicineHistone H2AmedicineAnimalsHumansTelomeraseCellular SenescenceTelomere ShorteningCell growthCell BiologyTelomere030104 developmental biologymedicine.anatomical_structureTelomeresCardiovascular diseases030220 oncology & carcinogenesisCancer researchmedicine.symptomDNA DamageExperimental Cell Research
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Genetic and Environmental Effects on Telomere Length and Lung Function: A Twin Study.

2015

Background The purpose of the study was to estimate the heritability of leukocyte telomere length (LTL) and lung function and to examine whether LTL and lung function share genetic or environmental effects in common. Methods 386 monozygotic and dizygotic Finnish twin sisters (age 68.4±3.4 years) were included. Relative LTL was determined from peripheral blood DNA by qPCR. Lung function measures of FEV1, FVC, FEV1/FVC, and PEF were derived from spirometry. Genetic modeling was performed with MPlus statistical software. Results Univariate analysis revealed that in LTL, 62% (95% confidence interval 50-72) of the variance was explained by additive genetic and 38% (28-50) by unique environmental…

0301 basic medicineSpirometryAgingBivariate analysista3111Genetic correlation03 medical and health sciencesFEV1/FVC ratio0302 clinical medicineForced Expiratory VolumeLeukocytesTwins DizygoticMedicineHumansLungAgedmedicine.diagnostic_testbusiness.industryEnvironmental exposureta3142Environmental ExposureTwins Monozygoticrespiratory systemHeritabilityMiddle AgedTelomeretelomeresTwin studyConfidence intervalrespiratory tract diseases030104 developmental biology030228 respiratory systemSpirometrygenetic modelingFemaleGeriatrics and GerontologybusinessDemographyThe journals of gerontology. Series A, Biological sciences and medical sciences
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Leukocyte and Skeletal Muscle Telomere Length and Body Composition in Monozygotic Twin Pairs Discordant for Long-term Hormone Replacement Therapy

2017

Estrogen-based hormone replacement therapy (HRT) may be associated with deceleration of cellular aging. We investigated whether long-term HRT has effects on leukocyte (LTL) or mean and minimum skeletal muscle telomere length (SMTL) in a design that controls for genotype and childhood environment. Associations between telomeres, body composition, and physical performance were also examined. Eleven monozygotic twin pairs (age 57.6 ± 1.8 years) discordant for HRT were studied. Mean duration of HRT use was 7.3 ± 3.7 years in the user sister, while their co-twins had never used HRT. LTL was measured by qPCR and SMTLs by southern blot. Body and muscle composition were estimated by bioimpedance an…

0301 basic medicinemedicine.medical_specialtymedicine.drug_classMonozygotic twinmedicine.disease_cause03 medical and health sciencesGrip strengthJumpingInsulin resistanceInternal medicinebioimpedancemedicineElectric ImpedanceLeukocytesestrogenHumanstietokonetomografiapost-menopausalMuscle SkeletalExerciseGenetics (clinical)Hand Strengthbusiness.industryEstrogen Replacement TherapyObstetrics and GynecologySkeletal muscleta3141computed tomographyTwins MonozygoticMiddle AgedTelomeremedicine.diseasetelomeresObesitypercentage of fatfat-free mass030104 developmental biologyEndocrinologymedicine.anatomical_structuretwin designEstrogenTransgender hormone therapyPediatrics Perinatology and Child HealthBody CompositionFemaletelomeeritbusinessTwin Research and Human Genetics
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Biological clocks and physical functioning in monozygotic female twins

2018

Background Biomarkers of biological aging – DNA methylation age (DNAm age) and leukocyte telomere length (LTL)– correlate strongly with chronological age across the life course. It is, however, unclear how these measures of cellular wear and tear are associated with muscle strength and functional capacity, which are known to decline with older age and are associated with mortality. We investigated if DNAm age and LTL were associated with body composition and physical functioning by examining 48 monozygotic twin sisters. Methods White blood cell DNAm age (predicted years) was calculated from Illumina 450 k BeadChip methylation data using an online calculator. DNAm age acceleration was define…

AgingEpigenetic clockTwin designfyysinen toimintakykybiomarkkeritWalkinglcsh:GeriatricsMethylationphysical functionAGEBiological ClocksPost-menopausalHumansMuscle Strengthpost-menopausalkaksostutkimusOLDERHERITABILITYHORMONE REPLACEMENT THERAPYMORTALITYTwins MonozygoticMiddle AgedBODY-MASS INDEXlcsh:RC952-954.6ikääntyminenTelomerestwin design3121 General medicine internal medicine and other clinical medicineTELOMERE LENGTHBody CompositionPhysical functionSKELETAL-MUSCLEFemaletelomeeritGRIP STRENGTHmethylationepigenetic clockResearch Article
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Up-Regulation of leucocytes Genes Implicated in Telomere Dysfunction and Cellular Senescence Correlates with Depression and Anxiety Severity Scores

2012

BACKGROUND: Major depressive disorder (MDD) is frequently associated with chronic medical illness responsible of increased disability and mortality. Inflammation and oxidative stress are considered to be the major mediators of the allostatic load, and has been shown to correlate with telomere erosion in the leucocytes of MDD patients, leading to the model of accelerated aging. However, the significance of telomere length as an exclusive biomarker of aging has been questioned on both methodological and biological grounds. Furthermore, telomeres significantly shorten only in patients with long lasting MDD. Sensitive and dynamic functional biomarkers of aging would be clinically useful to eval…

AgingGene Expressionlcsh:MedicineAnxietySocial and Behavioral Sciences0302 clinical medicineBiomarkers of agingMolecular Cell BiologyLeukocytesPathologyPsychologylcsh:ScienceCellular SenescenceDepression (differential diagnoses)Psychiatry0303 health sciencesMultidisciplinaryDepressionChromosome BiologyGenomicsMiddle AgedTelomereAllostatic loadUp-RegulationTelomeresMental HealthMedicineMajor depressive disorderAnxietyBiomarker (medicine)Femalemedicine.symptomResearch ArticleAdultSenescenceClinical PathologyPsychological StressBiologybehavioral disciplines and activitiesMolecular Genetics03 medical and health sciencesDiagnostic Medicinemental disordersGeneticsmedicineHumansBiologyCyclin-Dependent Kinase Inhibitor p16030304 developmental biologyDepressive Disorder Majorlcsh:RComputational BiologyHuman GeneticsDNAmedicine.diseaseTelomereOxygenGene Expression RegulationImmunologyStathminlcsh:QBiomarkers030217 neurology & neurosurgeryDNA DamagePLoS ONE
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Understanding ageing: Biomedical and bioengineering approaches, the immunologic view

2008

Abstract During the past century, humans have gained more years of average life expectancy than in the last 10,000 years; we are now living in a rapidly ageing world. The sharp rise in life expectancy, coupled to a steady decline in birth rates in all developed countries, has led to an unprecedented demographic revolution characterized by an explosive growth in the number and proportion of older people. Ageing is a complex process that negatively impacts the development of the immune system and its ability to function. Progressive changes in the T and B cell systems over the life span have a major impact on the capacity to respond to immune challenge. These cumulative age-associated changes…

Gerontologylcsh:Immunologic diseases. AllergySettore MED/04 - Patologia GeneraleAgingbusiness.industryMitochondrial damage immunology TelomeresImmunologyShort ReportImmunosenescencelcsh:GeriatricsBirth rateSharp riseAgeinglcsh:RC952-954.6AgeingElderly populationLife expectancyMedicinebusinessOlder peoplelcsh:RC581-607Developed country
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Corticotroph aggressive pituitary tumours and carcinomas frequently harbour ATRX mutations

2021

Abstract Context Aggressive pituitary tumors (APTs) are characterized by unusually rapid growth and lack of response to standard treatment. About 1% to 2% develop metastases being classified as pituitary carcinomas (PCs). For unknown reasons, the corticotroph tumors are overrepresented among APTs and PCs. Mutations in the alpha thalassemia/mental retardation syndrome X-linked (ATRX) gene, regulating chromatin remodeling and telomere maintenance, have been implicated in the development of several cancer types, including neuroendocrine tumors. Objective To study ATRX protein expression and mutational status of the ATRX gene in APTs and PCs. Design We investigated ATRX protein expression by us…

Male0301 basic medicineEndocrinology Diabetes and MetabolismClinical Biochemistrypituitary adenomapituitary carcinomaBiochemistryPATHWAYCohort Studies0302 clinical medicineEndocrinologyGene FrequencyTELOMERESCorticotrophsClinical Laboratory MedicineGenomicsMiddle AgedCushing’s diseaseEUROPEAN-SOCIETY3. Good healthEuropeKlinisk laboratoriemedicinACTH-Secreting Pituitary Adenoma030220 oncology & carcinogenesisDAXX/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingCushing's diseaseFemaleATRX (alpha thalassemia/mental retardation syndrome X-linked); aggressive PitNETs; pituitary carcinoma; pituitary adenoma; Cushings diseaseAcademicSubjects/MED00250EXPRESSIONAdenomaAdultX-linked Nuclear Proteinmedicine.medical_specialtyGENESAdolescentATRX (alpha thalassemia/mental retardation syndrome X-linked)3122 CancersNonsense mutationContext (language use)CLASSIFICATIONYoung Adult03 medical and health sciencesDeath-associated protein 6SDG 3 - Good Health and Well-beingPituitary adenomaInternal medicineADENOMASmedicineHumansGenetic Predisposition to DiseaseNeoplasm InvasivenessPituitary NeoplasmsClinical Research ArticlesATRXAgedCancer och onkologiaggressive PitNETsbusiness.industryCarcinomaBiochemistry (medical)Pituitary tumorsCancerAMPLIFICATIONNeuroendocrinologymedicine.disease030104 developmental biologyEndocrinologyPituitary3121 General medicine internal medicine and other clinical medicineCancer and OncologyMutationPituitary carcinomaCancer researchbusinessATRX (alpha thalassemia/mental retardation syndrome X-linked); Cushing’s disease; aggressive PitNETs; pituitary adenoma; pituitary carcinoma
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Telomeres as a molecular marker of male infertility

2018

In recent years, male infertility has become a growing social problem. Standard diagnostic procedures, based on assessing seminological parameters, are often insufficient to explain the causes of male infertility. Because of this, new markers with better clinical application are being sought. One of the promising markers seems to be an assessment of telomere length of sperm. Sperm telomeres, in contrast to somatic cells, are elongated as men age. The results of some studies suggest that telomere length may be relevant in the case of fertilization and normal embryo development. Literature reports indicate that there is a correlation between telomere length of sperm and abnormal sperm paramet…

Male0301 basic medicineSomatic cellBiologyBioinformaticsmale infertilityMale infertility03 medical and health scienceschemistry.chemical_compound0302 clinical medicineHuman fertilizationMolecular markermedicinelength of telomeresHumansInfertility Malemarker030219 obstetrics & reproductive medicineEmbryogenesisTelomere HomeostasisObstetrics and GynecologyGeneral MedicineTelomeremedicine.diseaseSpermatozoaSpermTelomere030104 developmental biologyTelomeresReproductive MedicinechemistrySpermatogenesisBiomarkersHuman Fertility
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