Search results for "Common"
showing 10 items of 20610 documents
Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilities
2016
The acidic fibroblast growth factor (FGF) intracellular binding protein (FIBP) interacts directly with the fibroblast growth factor FGF1. Although FIBP is known to be implicated in the FGF signaling pathway, its precise function remains unclear. Gain-of-function variants in several FGF receptors (FGFRs) are implicated in a wide spectrum of growth disorders from achondroplasia to overgrowth syndromes. In a unique case from a consanguineous union presenting with overgrowth, macrocephaly, retinal coloboma, large thumbs, severe varicose veins and learning disabilities, exome sequencing identified a homozygous nonsense FIBP variant. The patient's fibroblasts exhibit FIBP cDNA degradation and an …
Dicer prevents genome instability in response to replication stress
2019
Dicer, an endoribonuclease best-known for its role in microRNA biogenesis and RNA interference pathway, has been shown to play a role in the DNA damage response and repair of double-stranded DNA breaks (DSBs) in mammalian cells. However, it remains unknown whether Dicer is also important to preserve genome integrity upon replication stress. To address this question, we focused our study on common fragile sites (CFSs), which are susceptible to breakage after replication stress. We show that inhibition of the Dicer pathway leads to an increase in CFS expression upon induction of replication stress and to an accumulation of 53BP1 nuclear bodies, indicating transmission of replication-associate…
Coinfection outcome in an opportunistic pathogen depends on the inter-strain interactions
2017
Background In nature, organisms are commonly coinfected by two or more parasite strains, which has been shown to influence disease virulence. Yet, the effects of coinfections of environmental opportunistic pathogens on disease outcome are still poorly known, although as host-generalists they are highly likely to participate in coinfections. We asked whether coinfection with conspecific opportunistic strains leads to changes in virulence, and if these changes are associated with bacterial growth or interference competition. We infected zebra fish (Danio rerio) with three geographically and/or temporally distant environmental opportunist Flavobacterium columnare strains in single and in coinf…
Oxidative stress and exceptional human longevity: Systematic review.
2020
Oxidative stress (OS) has been previously linked to the aging process, as have some diseases and geriatric syndromes as frailty and sarcopenia. The aim of the present study was to perform a systematic review on oxidative stress activity and extreme longevity in humans.We conducted a systematic literature review following the PRISMA guidelines. Observational studies assessing OS-biomarkers and/or antioxidants in long-lived individuals (97 years old or over) comparing them to those of one or more age groups, (at least one of which from comprising elderly subjects) were considered for inclusion. A narrative synthesis was planned. Quality of selected studies was assessed using the Newcastle-Ott…
Centenarians: An excellent example of resilience for successful ageing.
2020
Centenarians are remarkable not only because of their prolonged life, but also because they compress morbidity until the very last moments of their lives, thus being proposed as a model of successful, extraordinary ageing. From the medical viewpoint, centenarians do not escape the physiological decline or the age-related diseases or syndromes (i.e. frailty), but the rate of such processes is slow enough to be counterbalanced by their increased intrinsic capacity to respond to minor stresses of daily life (i.e. resilience). These new concepts are reviewed in this paper. Allostatic stresses lead to a chronic low-grade inflammation that has led to the proposal of the "inflammaging" theory of a…
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…
A multidimensional approach to frailty in older people
2020
Frailty is an important factor determining a higher risk of adverse health outcomes in older adults. Although scientific community in the last two decades put a lot of effort for its definition, to date no consensus was reached on its assessment. The mainstream thinking describes frailty as a loss of physical functions or as accumulation of multiple deficits. Recently, a novel conceptual model of frailty has emerged based on the loss of harmonic interaction between multiple domains (also referred as dimensions) including genetic, biological, functional, cognitive, psychological and socio-economic domain that ultimately lead to homeostatic instability. Therefore, the multidimensional aspects…
Nutrigerontology: A key for achieving successful ageing and longevity
2016
During the last two centuries the average lifespan has increased at a rate of approximately 3 months/year in both sexes, hence oldest old people are becoming the population with the fastest growth in Western World. Although the average life expectancy is increasing dramatically, the healthy lifespan is not going at the same pace. This underscores the importance of studies on the prevention of age-related diseases, in order to satisfactorily decrease the medical, economic and social problems associated to advancing age, related to an increased number of individuals not autonomous and affected by invalidating pathologies. In particular, data from experimental studies in model organisms have c…
Identifying Biomarkers for Biological Age: Geroscience and the ICFSR Task Force
2021
The International Conference on Frailty and Sarcopenia Research Task Force met in March 2020, in the shadow of the COVID-19 pandemic, to discuss strategies for advancing the interdisciplinary field of geroscience. Geroscience explores biological mechanisms of aging as targets for intervention that may delay the physiological consequences of aging, maintain function, and prevent frailty and disability. Priorities for clinical practice and research include identifying and validating a range of biomarkers of the hallmarks of aging. Potential biomarkers discussed included markers of mitochondrial dysfunction, proteostasis, stem cell dysfunction, nutrient sensing, genomic instability, telomere d…
Anti-Inflamm-Ageing and/or Anti-Age-Related Disease Emerging Treatments: A Historical Alchemy or Revolutionary Effective Procedures?
2018
The “long-life elixir” has long represented for humans a dream, a vanity’s sin for remaining young and to long survive. Today, because of ageing population phenomenon, the research of antiageing interventions appears to be more important than ever, for preserving health in old age and retarding/or delaying the onset of age-related diseases. A hope is given by experimental data, which evidence the possibility of retarding ageing in animal models. In addition, it has been also demonstrated in animal life-extending studies not only the possibility of increasing longevity but also the ability to retard the onset of age-related diseases. Interestingly, this recent evidence is leading to promise …