Search results for "ERC"

Mutations in theERCC2(XPD) gene associated with severe fetal ichthyosis and dysmorphic features

2016

DNA Damage Signaling Instructs Polyploid Macrophage Fate in Granulomas.

2018

Granulomas are immune cell aggregates formed in response to persistent inflammatory stimuli. Granuloma macrophage subsets are diverse and carry varying copy numbers of their genomic information. The molecular programs that control the differentiation of such macrophage populations in response to a chronic stimulus, though critical for disease outcome, have not been defined. Here, we delineate a macrophage differentiation pathway by which a persistent Toll-like receptor (TLR) 2 signal instructs polyploid macrophage fate by inducing replication stress and activating the DNA damage response. Polyploid granuloma-resident macrophages formed via modified cell divisions and mitotic defects and not…

Basic Concepts in Molecular Biology Related to Genetics and Epigenetics.

2017

The observation that "one size does not fit all" for the prevention and treatment of cardiovascular disease, among other diseases, has driven the concept of precision medicine. The goal of precision medicine is to provide the best-targeted interventions tailored to an individual's genome. The human genome is composed of billions of sequence arrangements containing a code that controls how genes are expressed. This code depends on other nonstatic regulators that surround the DNA and constitute the epigenome. Moreover, environmental factors also play an important role in this complex regulation. This review provides a general perspective on the basic concepts of molecular biology related to g…

First molecular detection of mycobacterium bovis in environmental samples from a French region with endemic bovine tuberculosis

2016

Aims The aim of the study was to determine the prevalence of Mycobacterium bovis (the causative agent of bovine tuberculosis, bTB) in environmental matrices within a French region (Cote d'Or) affected by this zoonotic disease. Methods and Results We report here the development and the use of molecular detection assays based on qPCR (double fluorescent dye labelled probe) to monitor the occurrence of Mycobacterium tuberculosis complex (MTBC) or M. bovis in environmental samples collected in pastures where infected cattle and wildlife had been reported. Three qPCR assays targeting members of the MTBC (IS1561’ and Rv3866 loci) or M. bovis (RD4 locus) were developed or refined from existing ass…

Biology of frailty: Modulation of ageing genes and its importance to prevent age-associated loss of function

2016

Frailty is associated with loss of functional reserve as well as with the prediction of adverse events in the old population. The traditional criteria of frailty are based on five physical determinations described in the Cardiovascular Health Study. We propose that biological and genetic markers of frailty should be used to increase the predictive capacity of the established clinical indeces. In recent times, research for biological markers of frailty has gained impetus. Finding a biological markers with diagnostic and prognostic capacity would be a major milestone to identify frailty risk, and also pre-frailty status. In the first section of the manuscript, we review the available biomarke…

The free radical theory of frailty: Mechanisms and opportunities for interventions to promote successful aging

2019

The free radical theory of ageing has provided a framework of research into ageing based on Harman's idea that ageing was caused by damage produced by free radicals. However, several experiments have cast doubts on the general validity of the theory. The postulation of the free radical theory of frailty came from two basic facts: first that radicals not only act as damaging molecules, but also as signals to control cell function and second that on many occasions oxidative damage does not correlate with chronological but rather with unsuccessful ageing. Frailty is a geriatric concept by which an older person shows a lack of the feeling of wellbeing, unintentional weight loss, a relatively lo…

Using the Intervention Mapping protocol to develop a family-based intervention for improving lifestyle habits among overweight and obese children: st…

2016

Abstract Background In light of the high prevalence of childhood overweight and obesity, there is a need of developing effective prevention programs to address the rising prevalence and the concomitant health consequences. The main aim of the present study is to systematically develop and implement a tailored family-based intervention for improving lifestyle habits among overweight and obese children, aged 6–10 years old, enhancing parental self-efficacy, family engagement and parent-child interaction. A subsidiary aim of the intervention study is to reduce the prevalence of overweight and obesity among those participating in the intervention study. Methods/design The Intervention Mapping p…

Determinants of diet and physical Activity (DEDIPAC): a summary of findings

2017

The establishment of the Determinants of Diet and Physical Activity (DEDIPAC) Knowledge Hub, 2013 – 2016, was the first action taken by the ‘ Healthy Diet for a Healthy Life ’ European Joint Programming Initiative. DEDIPAC aimed to provide better insight into the determinants of diet, physical activity and sedentary behaviour across the life course, i.e. insight into the causes of the causes of important, non-commu nicable diseases across Europe and beyond. DEDIPAC was launched in late 2013, and delivered its final report in late 2016. In this paper we give an overview of what was achieved in terms of furthering measurement and monitoring, providing overviews of the state-of-the-art in the …

Association of leisure time physical activity and NMR-detected circulating amino acids in peripubertal girls: A 7.5-year longitudinal study

2017

AbstractThis study investigated the longitudinal associations of physical activity and circulating amino acids concentration in peripubertal girls. Three hundred ninety-six Finnish girls participated in the longitudinal study from childhood (mean age 11.2 years) to early adulthood (mean age 18.2 years). Circulating amino acids were assessed by nuclear magnetic resonance spectroscopy. LTPA was assessed by self-administered questionnaire. We found that isoleucine, leucine and tyrosine levels were significantly higher in individuals with lower LTPA than their peers at age 11 (p < 0.05 for all), independent of BMI. In addition, isoleucine and leucine levels increased significantly (~15%) fro…

Sarcopenia, frailty and their prevention by exercise.

2019

Sarcopenia is a major component of the frailty syndrome, both being considered as strong predictors of morbidity, disability, and death in older people. In this review, we explore the definitions of sarcopenia and frailty and summarize the current knowledge on their relationship with oxidative stress and the possible therapeutic interventions to prevent or treat them, including exercise-based interventions and multimodal strategies. We highlight the relevance of the impairment of the nervous system and of the anabolic response (protein synthesis) in muscle aging leading to frailty and sarcopenia. We also discuss the importance of malnutrition and physical inactivity in these geriatric syndr…