Search results for "Epigenetics"
showing 10 items of 517 documents
Characterization of a profile of epigenetic alterations involved in the aetiopathogenesis of endometriosis. Validation of molecular biomarkers for di…
2018
Introduction: Endometriosis is an oestrogen-dependent inflammatory disorder defined by the presence of endometrial-like tissue in ectopic locations, which limits the quality of life of affected women. This pathology affects 10% of reproductive-age women from all ethnic and social groups, although the prevalence in those patients experiencing pain, infertility or both is as high as 35%-50%, being the estimated prevalence of this condition around 176 million worldwide. Endometriosis is associated with an average diagnostic delay of 7 years, what could be partially explained by the lack of non-invasive biomarkers for diagnose, since the gold standard method is laparoscopy followed by histologi…
Does Arsenic Contamination Affect DNA Methylation Patterns in a Wild Bird Population? : An Experimental Approach
2021
Pollutants, such as toxic metals, negatively influence organismal health and performance, even leading to population collapses. Studies in model organisms have shown that epigenetic marks, such as DNA methylation, can be modulated by various environmental factors, including pollutants, influencing gene expression, and various organismal traits. Yet experimental data on the effects of pollution on DNA methylation from wild animal populations are largely lacking. We here experimentally investigated for the first time the effects of early-life exposure to environmentally relevant levels of a key pollutant, arsenic (As), on genome-wide DNA methylation in a wild bird population. We experimentall…
Chromatin structure influences rate and spectrum of spontaneous mutations in Neurospora crassa
2023
While mutation rates have been extensively studied, variation in mutation rates throughout the genome is poorly understood. To understand patterns of genetic variation, it is important to understand how mutation rates vary. Chromatin modifications may be an important factor in determining variation in mutation rates in eukaryotic genomes. To study variation in mutation rates, we performed a mutation accumulation experiment in the filamentous fungus Neurospora crassa, and sequenced the genomes of the 40 MA lines that had been propagated asexually for approximately 1015 [1003, 1026] mitoses. We detected 1322 mutations in total, and observed that the mutation rate was higher in regions of low …
Epigenetic mechanisms behind phenotypic changes in different population densities in bank voles (Myodes glareolus)
2017
Metsämyyrän (Myodes glareolus) fenotyyppisten muutosten epigeneettiset mekanismit eri populaatiotiheyksissä. Epigeneettisilla mekanismeilla on perustava rooli normaalissa geeniekspression aktiivisuudessa ja ne voidaan nähdä molekulaaristen prosessien systeeminä, joka reagoi ympäristötekijöihin ja säätelee geenisäätelyä muuttamatta alkuperäistä DNA-sekvenssiä. DNA-metylaatio on eniten tutkittu epigeneettinen mekanismi jolla on tärkeä rooli geenien säätelyssä normaalin solujen kehityksen aikana. Metylaatio ilmenee tyypillisesti CpG-dinukleotideissa, joissa metyyliryhmä kiinnittyy 5’-sytosiiniin (C) jota seuraava emäs on guaniini (G). Tämä voi estää näihin CpG-paikkoihin liittyvien geenien ilm…
Genetics and epigenetics in Parkinson´s disease
2014
La enfermedad de Parkinson (PD) es progresiva y neurodegenerativa. Se caracteriza clínicamente por bradiquinesia, temblor en reposo, rigidez e inestabilidad postural y anatomopatológicamente por degeneración nigral y por la presencia de numerosos cuerpos de Lewy en las neuronas supervivientes. Alrededor del 90% de los casos corresponden a formas esporádicas o idiopáticas de PD, de causa desconocida, mientras que el 10% restante, las denominadas formas familiares o monogénicas, son causados por mutaciones en alguno de los siguientes cinco genes: SNCA (PARK1, PARK4), PRKN (PARK2), PINK1 (PARK6), DJ-1 (PARK7) o LRRK2 (PARK8). Existen otros loci que también se han relacionado con la enfermedad …
Non-specific Effects of Vaccines Illustrated Through the BCG Example: From Observations to Demonstrations
2018
Epidemiological studies regarding many successful vaccines suggest that vaccination may lead to a reduction in child mortality and morbidity worldwide, on a grander scale than is attributable to protection against the specific target diseases of these vaccines. These non-specific effects (NSEs) of the Bacille Calmette-Guérin (BCG) vaccine, for instance, implicate adaptive and innate immune mechanisms, with recent evidence suggesting that trained immunity might be a key instrument at play. Collectively referring to the memory-like characteristics of innate immune cells, trained immunity stems from epigenetic reprogramming that these innate immune cells undergo following exposure to a primary…
Genetics of longevity. Data from the studies on Sicilian centenarians
2012
Abstract The demographic and social changes of the past decades have determined improvements in public health and longevity. So, the number of centenarians is increasing as a worldwide phenomenon. Scientists have focused their attention on centenarians as optimal model to address the biological mechanisms of "successful and unsuccessful ageing". They are equipped to reach the extreme limits of human life span and, most importantly, to show relatively good health, being able to perform their routine daily life and to escape fatal age-related diseases, such as cardiovascular diseases and cancer. Thus, particular attention has been centered on their genetic background and immune system. In thi…
Aging and longevity: An evolutionary approach
2021
Abstract In the chapter, first of all, the definition of aging, longevity, and the various types of aging are discussed. Then, analyzing various theories of aging, it is recalled how evolution teaches us that there should be no genes selected to promote aging. Aging is not planned but derives from the accumulation of physical damage, due to limited investments in maintenance and repair as well as from the epigenetic changes. After sufficient time has passed, the increasing levels of these defects interfere with the performance of tissues and organs, resulting in a breakdown of self-organizing system and a reduced ability to adapt to the environment.
Data from: Effects of acclimation time and epigenetic mechanisms on growth of Neurospora in fluctuating environments
2018
Reaction norms or tolerance curves have often been used to predict how organisms deal with fluctuating environments. A potential drawback is that reaction norms measured in different constant environments may not capture all aspects of organismal responses to fluctuating environments. We examined growth of the filamentous fungus Neurospora crassa in fluctuating temperatures and tested if growth in fluctuating temperatures can be explained simply by growth in different constant temperatures or if more complex models are needed. In addition, as previous studies on fluctuating environments have revealed that past temperatures that organisms have experienced can affect their response to current…
Data from: DNA methylation and potential for epigenetic regulation in Pygospio elegans
2016
Transitions in developmental mode are common evolutionarily, but how and why they occur is not understood. Developmental mode describes larval phenotypes, including morphology, ecology and behavior of larvae, which typically are generalized across different species. The polychaete worm Pygospio elegans is one of few species polymorphic in developmental mode, with multiple larval phenotypes, providing a possibility to examine the potential mechanisms allowing transitions in developmental mode. We investigated the presence of DNA methylation in P. elegans, and, since maternal provisioning is a key factor determining eventual larval phenotype, we compared patterns of DNA methylation in females…