Search results for "translational"
showing 10 items of 418 documents
Mitochondrial DNA mutations in cancer--from bench to bedside.
2009
Mitochondria are cell organelles mostly known for their production of ATP through oxidative phosphorylation. As suggested over 70 years ago by O. Warburg and recently confirmed with molecular techniques, alterations in respiratory activity and mitochondrial DNA appear to be a common feature of malignant cells. Somatic mtDNA mutations have been reported in many types of cancer cells. MtDNA mutation pattern may enhance the specificity of cancer diagnostics, detection and prediction of tumor growth rate and patients' outcome. Therefore it may be used as a molecular cancer bio-marker. Nevertheless recently published papers list a large number of mitochondrial DNA mutations in many different can…
Genotypic and phenotypic aspects of longevity: results from a Sicilian survey and implication for the prevention and the treatment of age-related dis…
2019
Background:It is well known that long living individuals are a model of successful ageing and that the identification of both genetic variants and environmental factors that predispose to a long and healthy life is of tremendous interest for translational medicine.Methods:We present the preliminary findings obtained from an ongoing study on longevity conducted on a sample of Sicilian long-lived individuals.Results:We review the characteristics of longevity in Sicily, taking into account lifestyle, environment, genetics, hematochemical values, body composition and immunophenotype. In addition, we discuss the possible implications of our data for the prevention and/or treatment of age-related…
Menstruation: science and society
2020
© 2020 The Authors Women's health concerns are generally underrepresented in basic and translational research, but reproductive health in particular has been hampered by a lack of understanding of basic uterine and menstrual physiology. Menstrual health is an integral part of overall health because between menarche and menopause, most women menstruate. Yet for tens of millions of women around the world, menstruation regularly and often catastrophically disrupts their physical, mental, and social well-being. Enhancing our understanding of the underlying phenomena involved in menstruation, abnormal uterine bleeding, and other menstruation-related disorders will move us closer to the goal of p…
Redes de colaboración y autorías científicas sobre la enfermedad de Chagas: análisis de las publicaciones indexadas en PubMed (1940-2009)
2012
Chagas disease is a chronic, tropical, parasitic disease, endemic throughout Latin America. The large-scale migration of populations has increased the geographic distribution of the disease and cases have been observed in many other countries around the world. To strengthen the critical mass of knowledge generated in different countries, it is essential to promote cooperative and translational research initiatives. We analyzed authorship of scientific documents on Chagas disease indexed in the Medline database from 1940 to 2009. Bibliometrics was used to analyze the evolution of collaboration patterns. A Social Network Analysis was carried out to identify the main research groups in the are…
Chance and Causality in Ageing and Longevity
2019
Longevity is not a matter of genes. This is the message that appeared last year in all the newspapers of the world, according to a study due to a joint venture between the statisticians of Ancestry and Calico Life Sciences that has dissected the genealogical trees of 400 million individuals, tracing back generations, and including dates of birth, death, places, and family ties. The genes would have little to do with longevity: in a percentage perhaps even less than 10% [1]. However, this extensive study has analysed the influence of genetics in terms of lifespan, but not in terms of longevity. Longevity may be defined in relative and absolute terms [2]. Longevity, indeed, may be considered …
Antioxidants in Translational Medicine.
2015
This Open Access article is distributed under the terms of the Creative Commons Attribution Noncommercial License.-- et al.
Schöne neue Welt der Prävention? Zu Voraussetzungen und Reichweite von Public Health Genetics
2007
Recent developments in molecular genetics and genomics have not only provided new insights into the biological foundation of life but have also brought about significant changes in the ways health and disease are understood. Nowadays, understanding how the human genome interacts with health-related behaviour and diverse environments is recognised to be the key for biomedical innovation. Even though advances in genetics and genomics have unveiled a whole new complexity of the genetic underpinnings of health and disease and clearly show the need for further investigation, studies of health-related genetic traits already give rise to novel approaches to prevention. As a relatively new field Pu…
Rat mammary-gland transferrin: nucleotide sequence, phylogenetic analysis and glycan structure
1995
The complete cDNA for rat mammary-gland transferrin (Tf) has been sequenced and also the native protein isolated from milk in order to analyse the structure of the main glycan variants present. A lactating-rat mammary-gland cDNA library in lambda gt10 was screened with a partial cDNA copy of rat liver Tf and subsequently rescreened with 5′ fragments of the longest clones. This produced a 2275 bp insert coding for an open reading frame of 695 amino acid residues. This includes a 19-amino acid signal sequence and the mature protein containing 676 amino acids and one N-glycosylation site in the C-terminal domain at residue 490. Phylogenetic analysis was carried out using 14 translated Tf nucle…
Characterization of a novel open reading frame, urf a, in the mitochondrial genome of fission yeast: correlation of urf a mutations with a mitochondr…
1991
Between the genes for tRNA(gin) and tRNA(ile) an open reading frame of 227 amino acids has been identified which is unique among known mitochondrial genomes and which has been termed urf a (Lang et al. 1983; Kornrumpf et al. 1984). It uses the "mitochondrial" genetic code, i.e., it contains a TGA codon, whereas all other protein-encoding genes, and all but one intronic open reading frame, use the "standard" genetic code (UGG for tryptophan). A previous paper has demonstrated that "mutator" strains show an increased formation of mitochondrial drug-resistant and respiration-deficient mutants (including deletions). In this paper we show that the mutator activity is correlated with mutations in…
LRP1 modulates APP trafficking along early compartments of the secretory pathway
2008
The amyloid beta peptide (A beta) is a central player in Alzheimer's disease (AD) pathology. A beta liberation depends on APP cleavage by beta- and gamma-secretases. The low density lipoprotein receptor related protein 1 (LRP1) was shown to mediate APP processing at multiple steps. Newly synthesized LRP1 can interact with APP, implying an interaction between these two proteins early in the secretory pathway. We wanted to investigate whether LRP1 mediates APP trafficking along the secretory pathway, and, if so, whether it affects APP processing. Indeed, the early trafficking of APP within the secretory pathway is strongly influenced by its interaction with the C-terminal domain of LRP1. The …