Retinas from our earliest vertebrate ancestors had cone-like photoreceptors, presumably allowing them to see in daylight, but little ability to see at night. Then, millions of years ago in the Mesozoic era, and in relatively short order, mammals emerged that had retinas with predominantly rod photoreceptors, allowing for them to see at night, perhaps to hunt for food while their dinosaur predators were dozing. Now a new study led by researchers at the National Eye Institute (NEI) suggests how the genesis of rod photoreceptors may have occurred to give rise to nocturnal mammals. The results were published in the June 20, 2016 issue of Developmental Cell. The open-access “featured” article is titled “Recruitment of Rod Photoreceptors from Short Wavelength Sensitive Cones During the Evolution of Nocturnal Vision in Mammals." The findings address a key piece of the evolution puzzle: How did early mammals so quickly evolve to have highly sensitive night vision? They also suggest how mammals evolved past the "nocturnal bottleneck," a theory that attempts to explain why most mammals today are either nocturnal or at least able to see in dim light. As it turns out, seeing well at night not only enabled our ancestors to survive, but it allowed them to thrive, so much so that their retinal traits were well preserved and passed on through millions of years of evolution. The study findings address another mystery: Why are rods the dominant photoreceptors in our retinas? "Despite the fact that sharp, acute vision would seem to be more important to our diurnal lifestyle, our retinas are predominantly made up of rods; only 5 percent of the retina's photoreceptors are cones," said the collaborative study's lead investigator, Anand Swaroop, Ph.D., Chief of NEI's Neurobiology-Neurodegeneration and Repair Laboratory.
Researchers have shown that the glucose-lowering drug liraglutide safely and effectively decreases the overall risk of heart attack, stroke, or cardiovascular death for people with type 2 diabetes. These patients are at high risk for cardiovascular disease, which is the number one killer of people with type 2 diabetes. Liraglutide was also associated with a reduction in kidney disease and death from all causes. The report, published online on June 13, 2016 in the New England Journal of Medicine, details findings from a global clinical trial called "Liraglutide Effect and Action in Diabetes Evaluation of Cardiovascular Outcome Results" or LEADER. This worldwide effort of 700 institutions in 32 countries marks the first time a diabetes drug with the main goal of lowering blood sugar has demonstrated such broad benefits for patients. "I've been excited about liraglutide for a long time because I think it's unique," said John Buse, M.D., Ph.D., senior author of the study, Director of the University of North Carolina (UNC) Diabetes Care Center, and the Verne S. Caviness Distinguished Professor of Medicine at the UNC School of Medicine. "This is the first diabetes drug that has shown across-the-board benefits for cardiovascular diseases, and this suggests it plays a role in treating atherosclerosis, which is what leads to heart attacks and strokes." The NEJM article is titled “Liraglutide and Cardiovascular Outcomes in Type 2 Diabetes.” The publication of this research coincided with a presentation of the findings at the American Diabetes Association's 76th Scientific Sessions in New Orleans. The LEADER study was a randomized double-blind study of 9,340 adults with type 2 diabetes who were at high risk of heart disease.
Following the January 2016 announcement of the production of a whole genome assembly for bread wheat, the International Wheat Genome Sequencing Consortium (IWGSC) (http://www.wheatgenome.org/), having completed quality control, is now making this breakthrough resource available for researchers via the IWGSC wheat sequence repository at URGI-INRA-Versailles, France (http://wheat-urgi.versailles.inra.fr/). This was announced in a press release published on June 13, 2016. Wheat breeders and scientists around the world will be able to download and use this invaluable new resource to accelerate crop improvement programs and wheat genomics research. The dataset will facilitate the identification of genes associated with important agricultural traits such as yield increase, stress response, and disease resistance, and, ultimately, will make possible the production of improved wheat varieties for farmers. Since the January announcement, the IWGSC project team has been fine-tuning the data so that the genome assembly released to the scientific community is of the highest quality possible. The resource released on June 13, 2016 – based on Illumina sequencing data assembled with NRGene’s DeNovoMAGICTM software – accurately represents more than 90 percent of the highly complex bread wheat genome, contains over 97 percent of known genes, and assigns the data to the 21 wheat chromosomes. This data release represents the IWGSC’s continued effort to produce a “gold standard reference sequence” – the complete map of the entire genome that precisely positions all genes and other genomic structures along the 21 wheat chromosomes. The wheat genome is large – five times that of the human genome – and complex, with three sets of seven chromosomes.
CANCER RESEARCH UK scientists have found a new way to slow the growth of the most aggressive type of breast cancer, according to research published online on June 13, 2016 in the journal Oncogene. The open-access article is titled “'The BET Inhibitor JQ1 Selectively Impairs Tumour Response to Hypoxia and Downregulates CA9 and Angiogenesis in Triple Negative Breast Cancer (TNBC).” The team from Oxford University and the University of Nottingham found that using a drug called JQ1 can alter how cancer cells respond to hypoxia -- or low oxygen -- found in more than 50 per cent of breast tumors overall and most commonly in triple-negative breast cancer, the form of the disease that is hardest to treat. JQ1 works by stopping cancer cells adapting to the lack of oxygen. The study results showed that JQ1 slowed tumor growth and limited the number of blood vessels that were produced. When a patient's breast cancer is starved of oxygen it can be much more difficult to treat successfully. That's because the way cancer cells adapt to low oxygen changes their biology and makes them resistant to standard therapies. When there are low levels of oxygen, tumor cells turn on specific genes which send signals for new blood vessels to supply them with fresh oxygen, giving cancer the nutrients it needs to grow and spread. Dr. Alan McIntyre, co-author of the study, at the University of Nottingham, said: "Triple-negative breast cancer is a challenge. By tackling hypoxia that so often compromises the treatment of breast cancers, JQ1 could be an important key to helping women with aggressive breast tumors." The study explains how the family of drugs to which JQ1 belongs works.
Knowledge of the minute details of the proteins that are linked to diseases is crucial if we are to discover therapeutic targets and thus pave the way for possible treatments. Such knowledge gains even more relevance when dealing with rare diseases that have received little attention and for which no treatments are available, such as the case of Kennedy's disease. Recently, Xavier Salvatella, Ph.D., ICREA researcher at the Institute for Research in Biomedicine (IRB Barcelona), in collaboration with scientists from the University of Florence (Italy), has described a molecular system of protection that involves the androgen receptor protein (image of structure), a molecule that is mutated in patients with Kennedy's disease and which cause progressive muscle wastage. The finding brings in-depth molecular insights that can lead to new studies and bring researchers closer to finding a therapeutic target for Kennedy's disease. The study was published in the June 7, 2016 issue of the Biophysical Journal, part of the Cell group. The article is titled “Sequence Context Influences the Structure and Aggregation Behavior of a PolyQ Tract B.” In Kennedy's disease, the muscle cells and motor neurons -- the latter linked to muscle function too -- are damaged as a result of the accumulation of androgen receptor fibers -- a process that causes them to die. "Many aspects of diseases involving aggregates, such as Alzheimer's and Parkinson's, are unknown. In this regard, Kennedy's disease is in a worse position because it is a rare condition," explains Dr. Salvatella, head of the Molecular Biophysics Lab at IRB Barcelona. The onset of this genetically inherited disease occurs in late adulthood, affecting one in every 40,000 men and causing progressive deterioration of all muscles.
Sarcoid skin tumors are the most common form of cancer in horses, but little is known about why the papillomavirus that causes them strikes some horses and not others. A new study by an international research group led by scientists at the Baker Institute for Animal Health at Cornell's College of Veterinary Medicine shows genetic differences in immune function between horses partly accounts for these differences. The study, published online on May 6, 2016 in the International Journal of Cancer, mirrors findings in humans, as some people have a genetic susceptibility to human papillomavirus, which can cause cervical and other cancers. The article is titled “Host Genetic Influence on Papillomavirus-Induced Tumors in the Horse.” "Many therapies have been proposed as the 'best' treatment for sarcoids," says Dr. Doug Antczak, the Dorothy Havemeyer McConville Professor of Equine Medicine, who led the study. In some horses, tumors develop as small bumps under the skin or as scaly lesions that easily can be removed by a veterinarian, but in other horses the problem becomes much more serious. Surgery, cryotherapy (freezing the tissue), laser treatment, injecting the tumors with drugs to kill the cells, radiation treatment, and immunotherapy have all been shown to cure these recalcitrant tumors, "but some tumors tend to recur no matter what treatment is used, and there is no universal consensus on a uniformly successful therapy," says Dr. Antczak. Dr. Antczak says it's been thought for years that bovine papillomavirus (BPV) is the most likely culprit behind sarcoid tumors. Recent work from Europe suggests variants of the BPV have become adapted to horses and are probably the cause of most sarcoids. With a grant from the Morris Animal Foundation, Dr.
People with type 2 diabetes who intensively controlled their blood sugar level during the landmark Action to Control Cardiovascular Risk in Diabetes (ACCORD) Trial Eye Study were found to have cut their risk of diabetic retinopathy in half in a follow-up analysis conducted four years after stopping intensive therapy. Investigators who led the ACCORD Follow-on Eye Study (ACCORDION) announced the results on June 11, 2016 in New Orleans at the 2016 American Diabetes Association (ADA) annual meeting (June 10-14). The study was supported by the National Institutes of Health's National Eye Institute (NEI). "This study sends a powerful message to people with type 2 diabetes who worry about losing vision," said Emily Chew, M.D., Deputy Director of the NEI Division of Epidemiology and Clinical Applications and lead author of the study report, published online on June 11, 2016 in Diabetes Care. "Well-controlled glycemia, or blood sugar level, has a positive, measurable, and lasting effect on eye health." The Diabetes Care article is titled “Persistent Effects of Intensive Glycemic Control on Retinopathy in Type 2 Diabetes in the Action to Control Cardiovascular Risk in Diabetes (ACCORD) Follow-On Study.” A complication of diabetes, diabetic retinopathy can damage tiny blood vessels in the retina -- the light-sensitive tissue in the back of the eye. ACCORDION is a follow-up assessment of diabetic retinopathy progression in 1,310 people who participated in ACCORD, which tested three treatment strategies to reduce the risk of cardiovascular disease among people with longstanding type 2 diabetes. ACCORD tested maintaining near-normal blood sugar levels (intensive glycemic control); improving blood lipid levels, such as lowering LDL "bad" cholesterol and triglycerides and raising HDL "good" cholesterol; and lowering blood pressure.
A new use of chemotherapy followed by autologous hematopoietic stem cell transplantation (aHSCT) has fully halted clinical relapses and development of new brain lesions in 23 of 24 patients with multiple sclerosis (MS) for a prolonged period without the need for ongoing medication, according to results of a new phase 2 clinical trial, published online on June 9, 2026 in The Lancet. The article is titled: “Immunoablation and Autologous Haemopoietic Stem-Cell Transplantation for Aggressive Multiple Sclerosis: A Multicentre Single-Group Phase 2 Trial.” Eight of the 23 patients had a sustained improvement in their disability 7.5 years after treatment. This is the first treatment to produce this level of disease control or neurological recovery from MS, but treatment-related risks limit its widespread use. MS is among the most common chronic inflammatory diseases of the central nervous system, with approximately 2 million people affected worldwide. It is caused when the immune system attacks the body, known as autoimmunity. Some specialist centers offer aHSCT for MS, which involves harvesting bone marrow stem cells from the patient, using chemotherapy to suppress the patient's immune system, and reintroducing the stem cells into the blood stream to "reset" the immune system to stop it attacking the body. However, many patients relapse after these treatments, so more reliable and effective methods are needed. Dr. Harold L. Atkins and Dr. Mark S. Freedman from The Ottawa Hospital and the University of Ottawa, Ottawa, Canada, and colleagues tested whether complete destruction, rather than suppression, of the immune system during aHSCT would reduce the relapse rate in patients and increase long-term disease remission.
[In an article published on June 6, 2016 in HDBuzz, Leora Fox, a Ph.D. candidate in neurobiology at Columbia University Medical Center, reported on very recent research by others suggesting the possible role of exosomes in Huntington’s disease (HD). HDBuzz is an internet publication on HD research written by scientists in plain language for the global HD community. Ms. Fox’s article (http://en.hdbuzz.net/download/HDBuzz-218-en.pdf), was edited by Jeff Carroll, Ph.D., Assistant Professor of Neuroscience at Western Washington University and co-founder of HDBuzz. Dr. Carroll, who is a prominent HD researcher, has himself been diagnosed with HD. He is 38. The HDBuzz article is reproduced here, with permission.] HDBuzz Article: Clumps of mutant huntingtin protein in brain cells are a hallmark of HD, and they build up slowly, occupying more and more cells over time. Recent research in mice shows that the harmful proteins can travel between neurons, setting off a chain reaction that leads to more sick cells and the development of symptoms. A person diagnosed with a neurodegenerative disease, such as Huntington’s, Alzheimer’s, or Parkinson’s, will develop symptoms progressively, meaning that they begin gradually and worsen over time. The progressive nature of Huntington’s is reflected within the brain, where cells controlling mood and movement become vulnerable to damage, then decrease in numbers over the course of many years. At the same time, neurons all over the brain slowly become littered with clumps of biological trash. These harmful clumps, often called “aggregates,” contain abnormal huntingtin protein along with other sticky gunk.
Scientists at the Wellcome Trust Sanger Institute and their international collaborators have shown that acute myeloid leukemia (AML) is not a single disorder, but at least 11 different diseases, and that genetic changes explain differences in survival among young AML patients. Published in June 9, 2016 issue of the New England Journal of Medicine, the ground-breaking study on the genetics of AML could improve clinical trials and the way patients are diagnosed and treated in the future. The open-access NEJM article is titled “Genomic Classification and Prognosis in Acute Myeloid Leukemia.” In the largest study of its kind, researchers studied 1,540 patients with AML who were enrolled in clinical trials. They analyzed more than 100 genes known to cause leukemia, in order to identify common genetic themes behind the development of the disease. The researchers found that the patients could be divided into at least 11 major groups, each with different constellations of genetic changes and distinctive clinical features. Despite finding common themes however, the study also showed that most patients had a unique combination of genetic changes driving their leukemia. This genetic complexity helps explain why AML shows such variability in survival rates among patients. Full knowledge of the genetic make-up of a patient's leukemia substantially improved the ability to predict whether that patient would be cured with current treatments. This information could be used to design new clinical trials to develop the best treatments for each AML subtype, with the ultimate goal of bringing more extensive genetic testing into routine clinical practice. Dr.