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Blind mice shed light on human sight loss

11-21-2007 · EurekAlert!

Mutant mice could provide genetic clues to understanding incurable human sight loss resulting from retinal degeneration. Research published in the online open access journal Genome Biology uncovers a role for microRNA in retinal disease, and may point the way to future therapies.

Keywords: blind, mice, shed, light, human, sight, loss

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Brown scientists explain inception of perception in the brain
03-05-2007 · EurekAlert!
All of human sensation -- sight, sound, taste -- begins in the brain when information moves from the thalamus to the neocortex. In Nature Neuroscience, Brown University researchers explain how cortical cells get activated during this critical transfer. The findings shed light on the inner workings of the cortex, the biggest part of the brain, and may help explain some forms of irregular electrical brain activity such as epileptic seizures.
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A unique arrangement for egg cell division
08-09-2007 · EurekAlert!
Using a powerful microscope, researchers from the European Molecular Biology Laboratory have now revealed how the molecular machinery functions that is responsible for chromosome reduction of egg cells in mice. In the current issue of Cell they report the assembly of this machinery, which is very different from what happens in all other cells in the body. The process is likely conserved across species, and the new insights might help shed light on defects occurring in human egg cell development.
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Transplanted photoreceptor precursor cells restore visual function in mice with retinal degeneration
11-08-2006 · EurekAlert!
Scientists have successfully transplanted light-sensing cells called photoreceptors directly into the eyes of mice and restored their visual function. The achievement is based on a novel technology in which the cells are introduced at a particular stage in their development. The experiment has potential implications for human eye diseases that dim the sight of millions of people.
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Danish researches solve virus puzzle
03-30-2007 · EurekAlert!
How is virus as for example HIV and bird flu able to make the cells within a human body work for the purpose of the virus? Researchers at the University of Copenhagen shed new light on this question.
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Understanding smooth eye pursuit
07-02-2007 · EurekAlert!
Researchers at the University of Pennsylvania have shed new light on how the brain and eye team up to spot an object in motion and follow it, a classic question of human motor control.
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New findings may lead to treatment for anxiety in Rett Syndrome
11-13-2006 · EurekAlert!
The classic form of Rett Syndrome shows us a child who is the picture of anxiety: she wrings her hands, hyperventilates, trembles. The progression of the disorder includes loss of acquired skills, speech and mobility. Many girls with Rett display elevated stress hormones. New studies may shed light on whether much of the anxiety of these children is a response to the experience of Rett, or is an intrinsic aspect of the disorder.
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Advance in understanding of blood pressure gene could lead to new treatments
02-04-2007 · EurekAlert!
Research by scientists at UCL (University College London) has clearly demonstrated for the first time the structure and function of a gene crucial to the regulation of blood pressure. The discovery could be important in the search for new treatments for illnesses such as heart disease, the UK's biggest killer. In a paper published online today in Nature Medicine, the team, led by Professor Patrick Vallance and Dr James Leiper, UCL Department of Medicine, reveal the role of the human gene dimethylarginine dimethylaminohydrolase (DDAH), showing that loss of DDAH activity disrupts nitric oxide (NO) production. NO is critical in the regulation of blood pressure, nervous system functions and the immune system. The role of DDAH is to break down modified amino acids (Asymmetric dimethylarginine (ADMA) and monomethyl arginine (L-NMMA)) that are produced by the body and have been shown to inhibit NO synthase. These molecules accumulate in various disease states including diabetes, renal failure and pulmonary and systemic hypertension, and their concentration in plasma (the fluid component of blood) is strongly predicative of cardiovascular disease and death. In a healthy human body, the majority of ADMA is eliminated through active metabolism by DDAH. Scientists have hypothesised that if DDAH function is impaired, NO production is reduced, and that this could be an important feature of increased cardiovascular risk. To examine this pathway in more detail, the researchers deleted the DDAH gene in mice. These mice went on to develop hypertension, or high blood pressure. They also designed specific inhibitors (small molecules) which bind to the active site of human DDAH. These small molecule inhibitors also induced hypertension in mice, confirming the importance of DDAH in the regulation of blood pressure. Dr Leiper, UCL Medicine, said: “These genetic and chemical approaches to disrupt DDAH showed remarkably consistent results, and provide compelling evidence that loss of DDAH function increases the concentration of ADMA and thereby disrupts vascular NO signalling. “There has been considerable scientific interest in this pathway and the role of ADMA as a novel risk factor, but so far there's been little evidence to support the idea that it's a cause of disease, rather than just a marker. Genes and their pathways are crucial to our understanding of cardiovascular disease and a better understanding of DDAH-1 could lead to important new treatments. “It could help us to establish if genetic variation predisposes certain people to these diseases, or whether environmental factors exert some of their effects through modulation of DDAH activity. “Our research also shows that this pathway could be harnessed therapeutically to limit production of NO in certain situations where too much nitric oxide is a bad thing; for example, hypotension and septic shock. These are some of the biggest problems in intensive care medicine and there is a huge unmet need for drug treatments.” The study, which was carried out at UCL's Rayne Institute, was funded by grants from the British Heart Foundation, the Wellcome Trust and the Medical Research Council. Professor Jeremy Pearson, Associate Medical Director of the British Heart Foundation, said: "The unexpected finding in the 1980s that a simple gas, nitric oxide (NO), is made by cells in the blood vessel wall and is a powerful control of blood vessel relaxation led to the award of the Nobel Prize in 1998 to its discoverers. "More recently, there has been increasing evidence that impairment of NO production is likely to be an important factor in the development of heart and circulatory disease, but the mechanisms responsible are not fully understood. "This study suggests for the first time that the loss of the activity of the enzyme DDAH-1 leads to reduced NO production and may cause heart and circulatory disease. These findings are likely to be important in the search for new ways to optimise the health of our blood vessels." ### Notes for Editors 1. For more information, please contact Ruth Metcalfe in the UCL Media Relations Office on tel: +44 (0)20 7679 9739, mobile: +44 (0)7990 675 947, out of hours: +44 (0)7917 271 364, e-mail: r.metcalfe@ucl.ac.uk2. 'Disruption of methylarginine metabolism impairs vascular homeostasis' is published in the February issue of the journal Nature Medicine. Advance online publication is embargoed to 18.00 GMT (13.00 US Eastern) Sunday 4 February 2007. Journalists can obtain copies of the paper by contacting the UCL Media Relations Office.3. The study was funded by the British Heart Foundation, the Wellcome Trust and the Medical Research Council. About UCL Founded in 1826, UCL was the first English university established after Oxford and Cambridge, the first to admit students regardless of race, class, religion or gender, and the first to provide systematic teaching of law, architecture and medicine. In the government's most recent Research Assessment Exercise, 59 UCL departments achieved top ratings of 5* and 5, indicating research quality of international excellence. UCL is the fourth-ranked UK university in the 2006 league table of the top 500 world universities produced by the Shanghai Jiao Tong University. UCL alumni include Mahatma Gandhi (Laws 1889, Indian political and spiritual leader); Jonathan Dimbleby (Philosophy 1969, writer and television presenter); Junichiro Koizumi (Economics 1969, Prime Minister of Japan); Lord Woolf (Laws 1954, Lord Chief Justice of England & Wales); Alexander Graham Bell (Phonetics 1860s, inventor of the telephone), and members of the band Coldplay.
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Therapeutic peptide frees the protein p73 to kill tumor cells
03-08-2007 · EurekAlert!
p53 suppresses tumor development by inducing tumor cell death. However, targeting p53 for the treatment of cancer is confounded by the fact that genetic mutations cause loss or inactivation of p53 in approximately 50 percent of human cancers. Now, a new study indicates that targeting the p53-related protein p73 in mice induces the regression of established tumors of human origin, leading to the suggestion that p73 might be a viable target for developing anticancer therapeutics.
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Stanford researchers identify immune dysfunction in melanoma patients
05-07-2007 · EurekAlert!
Researchers at Stanford have begun to shed light on why the human immune system isn't able to stop such cancers as melanoma, suggesting answers that could pave the way for better treatment of this often-fatal illness. In a small study, the scientists found that the immune cells in a majority of people with this deadly skin cancer fail to respond properly to a molecule called interferon, which normally activates the immune system.
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Common algae helps illustrate mammalian brain electrical circuitry
04-18-2007 · EurekAlert!
Mice whose brain cells respond to a flash of light are providing insight into the complexities of the sense of smell and may ultimately yield a better understanding of how the human brain works.
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