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  • richardmitnick 3:53 pm on January 14, 2015 Permalink | Reply
    Tags: , , ICL,   

    From ICL: “‘Titin’ gene mutations will help identify patients at risk of heart failure” 

    Imperial College London
    Imperial College London

    14 January 2015
    Sam Wong

    1

    A new study has identified genetic mutations that cause the heart condition dilated cardiomyopathy (DCM), paving the way for more accurate diagnosis.

    By sequencing the gene encoding the muscle protein titin in more than 5,000 people, scientists have worked out which variations are linked to disease, providing information that will help screen high-risk patients.

    Titin gene mutations were previously associated with DCM, a leading cause of inherited heart failure, but many people have variations in the genetic code that are completely benign.

    The new study, published in Science Translational Medicine, sorts the harmful from the harmless mutations, giving doctors a directory to interpret patients’ DNA sequences.

    The information could also help researchers develop therapies to prevent or treat heart disease caused by titin mutations.

    The study was led by researchers at Imperial College London and Royal Brompton & Harefield NHS Foundation Trust.

    2
    Cardiac magnetic resonance imaging of the heart of a patient with dilated cardiomyopathy.

    Around one in 250 people are estimated to have DCM. It causes the heart muscle to become thin and weak, often leading to heart failure.

    Mutations in the titin gene that make the protein shorter, or truncated, are the most common cause of DCM, accounting for about a quarter of cases. But truncations in the gene are common – around one in 50 people have one – and most are not harmful, making it difficult to develop a useful genetic test.

    The researchers sequenced the titin gene from 5,267 people, including healthy volunteers and patients with DCM, and analysed the levels of titin in samples of heart tissue. The results showed that mutations that cause DCM occur at the far end of the gene sequence. Mutations in healthy individuals tend to occur in parts of the gene that aren’t included in the final protein, allowing titin to remain functional.

    Professor Stuart Cook, from the Medical Research Council (MRC) Clinical Sciences Centre at Imperial College London, who led the study, said: “These results give us a detailed understanding of the molecular basis for dilated cardiomyopathy. We can use this information to screen patients’ relatives to identify those at risk of developing the disease, and help them to manage their condition early.”

    The research was funded by the MRC, the British Heart Foundation, the Fondation Leducq, the Wellcome Trust, the National Institute for Health Research (NIHR) Royal Brompton Cardiovascular Biomedical Research Unit and the NIHR Imperial Biomedical Research Centre.

    Professor Dudley Pennell, director of the NIHR Royal Brompton Cardiovascular Biomedical Research Unit, said: “This research reveals which genetic mutations are bad and which are there purely as bystanders. It will benefit patients with cardiomyopathy and enable us to reassure relatives who do not have the disease, allowing them to be discharged from clinic and preventing needless anxiety and unnecessary expensive tests.”

    Professor Jeremy Pearson, Associate Medical Director at the British Heart Foundation, said: “Determining which mutations in titin are harmful and which are not has been difficult, in part because titin is one of the largest human proteins.

    “This study defines, for the first time, a comprehensive list of mutations in the titin gene, which of these are associated with dilated cardiomyopathy, and which are harmless. This information will be extremely valuable for correct future diagnosis and treatment as we enter an era when many people’s genes will be sequenced.”

    See the full article here.

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    Imperial College London

    Imperial College London is a science-based university with an international reputation for excellence in teaching and research. Consistently rated amongst the world’s best universities, Imperial is committed to developing the next generation of researchers, scientists and academics through collaboration across disciplines. Located in the heart of London, Imperial is a multidisciplinary space for education, research, translation and commercialisation, harnessing science and innovation to tackle global challenges.

     
  • richardmitnick 12:58 am on January 11, 2015 Permalink | Reply
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    From ICL: “Gravity may have saved the universe after the Big Bang, say researchers” 

    Imperial College London
    Imperial College London

    18 November 2014
    Laura Gallagher

    1
    New research by a team of European physicists could explain why the universe did not collapse immediately after the Big Bang.

    Studies of the Higgs particle – discovered at CERN in 2012 and responsible for giving mass to all particles – have suggested that the production of Higgs particles during the accelerating expansion of the very early universe (inflation) should have led to instability and collapse.

    Scientists have been trying to find out why this didn’t happen, leading to theories that there must be some new physics that will help explain the origins of the universe that has not yet been discovered. Physicists from Imperial College London, and the Universities of Copenhagen and Helsinki, however, believe there is a simpler explanation.

    In a new study in Physical Review Letters, the team describe how the spacetime curvature – in effect, gravity – provided the stability needed for the universe to survive expansion in that early period. The team investigated the interaction between the Higgs particles and gravity, taking into account how it would vary with energy.

    They show that even a small interaction would have been enough to stabilise the universe against decay.

    “The Standard Model of particle physics, which scientists use to explain elementary particles and their interactions, has so far not provided an answer to why the universe did not collapse following the Big Bang,” explains Professor Arttu Rajantie, from the Department of Physics at Imperial College London.

    sm
    The Standard Model of elementary particles, with the three generations of matter, gauge bosons in the fourth column, and the Higgs boson in the fifth.

    “Our research investigates the last unknown parameter in the Standard Model – the interaction between the Higgs particle and gravity. This parameter cannot be measured in particle accelerator experiments, but it has a big effect on the Higgs instability during inflation. Even a relatively small value is enough to explain the survival of the universe without any new physics!”

    The team plan to continue their research using cosmological observations to look at this interaction in more detail and explain what effect it would have had on the development of the early universe. In particular, they will use data from current and future European Space Agency missions measuring cosmic microwave background radiation and gravitational waves.

    Cosmic Microwave Background  Planck
    CMB per ESA/Planck

    Gravitational Wave Background
    Gravitational Wave Background

    “Our aim is to measure the interaction between gravity and the Higgs field using cosmological data,” says Professor Rajantie. “If we are able to do that, we will have supplied the last unknown number in the Standard Model of particle physics and be closer to answering fundamental questions about how we are all here.”

    The research is funded by the Science and Technology Facilities Council, along with the Villum Foundation, in Denmark, and the Academy of Finland.

    See the full article here.

    Please help promote STEM in your local schools.

    STEM Icon

    Stem Education Coalition

    Imperial College London

    Imperial College London is a science-based university with an international reputation for excellence in teaching and research. Consistently rated amongst the world’s best universities, Imperial is committed to developing the next generation of researchers, scientists and academics through collaboration across disciplines. Located in the heart of London, Imperial is a multidisciplinary space for education, research, translation and commercialisation, harnessing science and innovation to tackle global challenges.

     
  • richardmitnick 12:03 pm on December 23, 2014 Permalink | Reply
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    From ICL: “Cholesterol in food causes inflammation in gut lining” 

    Imperial College London
    Imperial College London

    23 December 2014
    Sam Wong

    Scientists have discovered a possible way in which high fat diets might lead to inflammation in the gut.

    Working with mice and zebrafish, researchers at Imperial College London discovered that cholesterol, a component of fatty foods, triggers an inflammatory response in the cells lining the gut and impairs the movement of food through the gut.

    Some patients with inflammatory bowel disease report that eating fatty food can worsen their symptoms, although this has not been confirmed in studies. The new findings, published in Nature Communications, could explain how this effect might occur.

    i
    Micrograph showing inflammation of the large bowel in a case of inflammatory bowel disease. Colonic biopsy

    Professor Maggie Dallman, from the Department of Life Sciences at Imperial, who led the study, said: “In humans, inflammation in the gut is associated with a number of conditions that cause pain and discomfort, such as irritable bowel syndrome. The relationship between these conditions and diet is poorly understood, so we were interested in exploring how fatty diets might cause inflammation.

    “We studied zebrafish because they have similar immune systems to mammals, and their guts have a similar architecture. They are also translucent, which makes it easy to study what’s happening inside their bodies. We also studied mice to confirm that the effects are similar in mammals.”

    z
    The researchers found that feeding the animals cream or butter caused acute inflammation in the gut lining.

    They then showed that this was directly caused by cholesterol binding to a protein found on the epithelial cells that line the gut. The response was also dependent on signals from particular microbes that live in the gut.

    After 10 days on a high cholesterol diet, the waves of muscle contraction and relaxation that push food through the intestine were impaired. In humans, this effect is a common symptom of gastro-intestinal disorders, such as irritable bowel syndrome.

    Study author Fränze Progatzky, also from the Department of Life Sciences at Imperial, said: “What’s surprising about our findings is that the initial response to cholesterol occurs not in immune cells, but in the cells of the gut lining. We plan to research these effects further and investigate their possible role in human disease.”

    The research was funded by the Biotechnology and Biological Sciences Research Council, the Wellcome Trust, and the National Centre for the Replacement, Refinement and Reduction of Animals in Research (NC3Rs).

    Reference: F. Progatzky et al. Dietary cholesterol directly induces acute inflammasome-dependent intestinal inflammation. Nature Communications, 2014. DOI: 10.1038/ncomms6864

    See the full article here.

    Please help promote STEM in your local schools.

    STEM Icon

    Stem Education Coalition

    Imperial College London

    Imperial College London is a science-based university with an international reputation for excellence in teaching and research. Consistently rated amongst the world’s best universities, Imperial is committed to developing the next generation of researchers, scientists and academics through collaboration across disciplines. Located in the heart of London, Imperial is a multidisciplinary space for education, research, translation and commercialisation, harnessing science and innovation to tackle global challenges.

     
  • richardmitnick 10:13 am on December 19, 2014 Permalink | Reply
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    From ICL: “New study shows how some E. coli bacteria hijack key proteins to survive longer” 

    Imperial College London
    Imperial College London

    19 December 2014
    Laura Gallagher

    A new study shows how two strains of the intestinal bug E. coli manage to hijack host proteins used to control the body’s immune system.

    1

    The research, carried out by scientists at Imperial College London and published in the journal Nature Communications, shows how E. coli bacteria can block key human enzymes, in a way that has not previously been shown in any other biological context.

    The enzymes, known as kinases, are molecular switches that control processes such as immune responses to infection and cancers in humans. Better understanding how the E. coli bacteria interfere with kinases will provide valuable avenues for investigating new therapies.

    There are many different strains of E. coli. While some are good bacteria, others can cause symptoms ranging from mild diarrhoea and nausea to kidney failure and death. The two strains examined in this study are E. coli O157, which causes food-borne infections, and enteropathogenic E. coli (EPEC), which is a major cause of infantile diarrhoea in low-income countries.

    At present there are no vaccines or effective drugs to combat these infections – in fact antibiotic treatment of E. coli O157 infection can cause the invading bacteria to release more toxins, making the symptoms worse. Patients are treated with fluids and nutrients to enable their immune system to fight the infection.

    One reason why these strains are so dangerous is that they inject bacterial proteins into human cells. These proteins hijack the cell’s signalling network to promote their growth and survival, for example by preventing the host from recognising them as harmful bacteria.

    The new research found that E. coli O157 and EPEC inject a protein called EspJ which inhibits the kinases from signalling.

    “The way in which the EspJ protein blocks the activity of human kinases is completely novel,” says Professor Gad Frankel, from the MRC Centre for Molecular Bacteriology and Infection. “This study will help us better understand how pathogens are able to hijack cells and how they prevent the immune system from fighting the infection.”

    The team reached their conclusions after performing biochemical, mass spectrometry and cell biology assays. This study provides valuable new avenues of investigation: further research will look at whether EspJ-like proteins in other intestinal pathogens, such as Salmonella, behave in similar ways, and also what effect EspJ proteins in E. coli O157 might have on other types of kinases.

    The research was carried out by a team of scientists at Imperial College London, working in collaboration Albert-Ludwigs-Universität Freiburg, in Germany.

    See the full article here.

    Please help promote STEM in your local schools.

    STEM Icon

    Stem Education Coalition

    Imperial College London is a science-based university with an international reputation for excellence in teaching and research. Consistently rated amongst the world’s best universities, Imperial is committed to developing the next generation of researchers, scientists and academics through collaboration across disciplines. Located in the heart of London, Imperial is a multidisciplinary space for education, research, translation and commercialisation, harnessing science and innovation to tackle global challenges.

     
  • richardmitnick 1:48 pm on December 13, 2014 Permalink | Reply
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    From Imperial College London: “Researchers use real data rather than theory to measure the cosmos” 

    Imperial College London
    Imperial College London

    12 December 2014
    Francesca Davenport

    For the first time researchers have measured large distances in the Universe using data, rather than calculations related to general relativity.

    A research team from Imperial College London and the University of Barcelona has used data from astronomical surveys to measure a standard distance that is central to our understanding of the expansion of the universe.

    Previously the size of this ‘standard ruler’ has only been predicted from theoretical models that rely on general relativity to explain gravity at large scales. The new study is the first to measure it using observed data. A standard ruler is an object which consistently has the same physical size so that a comparison of its actual size to its size in the sky will provide a measurement of its distance to earth.

    “Our research suggests that current methods for measuring distance in the Universe are more complicated than they need to be,” said Professor Alan Heavens from the Department of Physics, Imperial College London who led the study. “Traditionally in cosmology, general relativity plays a central role in most models and interpretations. We have demonstrated that current data are powerful enough to measure the geometry and expansion history of the Universe without relying on calculations relating to general relativity.

    “We hope this more data-driven approach, combined with an ever increasing wealth of observational data, could provide more precise measurements”
    – Professor Alan Heavens, Chair in Astrostatistics

    i
    Illustration of the concept of Baryonic Acoustic Oscillations. Credit: Chris Blake & Sam Moorfield

    “We hope this more data-driven approach, combined with an ever increasing wealth of observational data, could provide more precise measurements that will be useful for future projects that are planning to answer major questions around the acceleration of the Universe and dark energy.”

    The standard ruler measured in the research is the baryon acoustic oscillation scale. This is a pattern of a specific length which is imprinted in the clustering of matter created by small variations in density in the very early Universe (about 400,000 years after the Big Bang). The length of this pattern, which is the same today as it was then, is the baryon acoustic oscillation scale.

    The team calculated the length to be 143 Megaparsecs (nearly 480 million light years) which is similar to accepted predictions for this distance from models based on general relativity.

    Published in Physical Review Letters, the findings of the research suggest it is possible to measure cosmological distances independently from models that rely on general relativity.
    standard ruler

    m
    Illustration of standard rulers and standard candles to measure expansion of universe. Credit:
    NASA/JPL-Caltech

    Einstein’s theory of general relativity replaced Newton’s law to become the accepted explanation of how gravity behaves at large scales. Many important astrophysics models are based on general relativity, including those dealing with the expansion of the Universe and black holes. However some unresolved issues surround general relativity. These include its lack of reconciliation with the laws of quantum physics and the need for it to be extrapolated many orders of magnitude in scales in order to apply it in cosmological settings. No other physics law have been extrapolated that much without needing any adjustment so its assumptions are still open to question.

    Co-author of the study, Professor Raul Jimenez from the University of Barcelona said: “The uncertainties around general relativity have motivated us to develop methods to derive more direct measurements of the cosmos, rather than relying so heavily on inferences from models. For our study we only made some minimal theoretical assumptions such as the symmetry of the Universe and a smooth expansion history.”

    Co-author Professor Licia Verde from the University of Barcelona added: “There is a big difference between measuring distance and inferring its value indirectly. Usually in cosmology we can only do the latter and this is one of these rare and precious cases where we can directly measure distance. Most statements in cosmology assume general relativity works and does so on extremely large scales, which means we are often extrapolating figures out of our comfort zone. So it is reassuring to discover that we can make strong and important statements without depending on general relativity and which match previous statements. It gives one confidence that the observations we have of the Universe, as strange and puzzling as they might be, are realistic and sound!”

    The research used current data from astronomical surveys on the brightness of exploding stars (supernovae) and on the regular pattern in the clustering of matter (baryonic acoustic oscillations) to measure the size of this ‘standard ruler’. The matter that created this standard ruler formed about 400,000 years after the Big Bang. This period was a time when the physics of the Universe was still relatively simple so the researchers did not need to consider more ‘exotic’ concepts such as dark energy in their measurements.

    “In this study we have used measurements that are very clean,” Professor Heavens explained, “And the theory that we do apply comes from a time relatively soon after the Big Bang when the physics was also clean. This means we have what we believe to be a precise method of measurement based on observations of the cosmos. Astrophysics is an incredibly active but changeable field and the support for the different models is liable to change. Even when models are abandoned, measurements of the cosmos will survive. If we can rely on direct measurements based on real observations rather than theoretical models then this is good news for cosmology and astrophysics.”

    The research was supported by the Royal Society and the European Research Council.

    Reference: Heavens A., Jimenez J., and Verde L. (2014) Standard rulers, candles and clocks from low-redshift Universe. Physical Review Letters, 2014. The paper is available here.

    See the full article here.

    Please help promote STEM in your local schools.

    STEM Icon

    Stem Education Coalition

    Imperial College London is a science-based university with an international reputation for excellence in teaching and research. Consistently rated amongst the world’s best universities, Imperial is committed to developing the next generation of researchers, scientists and academics through collaboration across disciplines. Located in the heart of London, Imperial is a multidisciplinary space for education, research, translation and commercialisation, harnessing science and innovation to tackle global challenges.

     
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