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Novel Brain Protein May Be Key to Huntington Disease Mystery

Scientists at Johns Hopkins have shown evidence that a novel protein (Rhes) located chiefly in a key area of the brain (the corpus striatum), may be a clue to the mystery of why abnormal huntintin protein, although present in cells throughout the body, exerts its cell-killing and disease-causing effects primarily in the corpus striatum. The findings, according to the Hopkins scientists, explain the unique pattern of brain damage in Huntingtin disease (HD) and its symptoms, as well as offer a strategy for new therapy. “It's always been a mystery why, if the protein made by the HD gene is seen in all cells of the body, only the brain, and only a particular part of the brain, the corpus striatum, deteriorates," said Dr. Solomon H. Snyder, senior author of the report. "By finding the basic culprit (Rhes), the potential is there to develop drugs that target it and either prevent symptoms or slow them down." In their work, the researchers showed that the Rhes protein interacts with the huntingtin protein, but much more strongly with the mutant, disease-causing version than with the normal version. They further showed that presence of both the Rhes protein and the huntingtin protein in cells led to speedy cell death, while the presence of either protein alone did not. They also observed that the presence of the Rhes protein resulted in less clumping of the huntingtin protein in cells, than did the absence of Rhes protein. This could be an explanation for why, in HD, less clumping of huntingtin is observed in the corpus striatum than in the unaffected cells in the body, even though clumping has been proposed, by some, as a cause of the disease. "Here's the Rhes protein, we've known about it for years, nobody ever really knew what it did in the brain or anywhere else," said Dr. Snyder.

Personalize Medicine (Bioinformatics) Conference to be Held at San Francisco State

A one-day conference entitled “Personalized Medicine 2.0—Bioinformatics: Mining the Data” will be held at San Francisco State University on Thursday, June 4, from 9 am through 7 pm. The conference will be held in the Seven Hills Center at the University, 1600 Holloway Avenue. Full details and registration can be found at the link below. You may register online, at the door, or by contacting Jen Javernick at jjav@sfsu.edu or at 415-405-2636. The conference is described as an exciting, one-day conference and networking opportunity for scientists, educators, and health & industry professionals. Personalized medicine is the application of genomic data to ensure the delivery of the right treatments and preventive measures to the right patient at the right time, ushering in a new era of affordable healthcare delivered with laser precision. Personalized Medicine 2.0 is the second annual one-day conference focused on the perspectives of non-profit and corporate research, biotechnology, academic, and diagnostic leaders with concentration on how the evolving landscape is revolutionizing medical care. The conference will explore what happens "on the ground" when personalized medicine is put into practice, and what that means for caregivers and patients, as well as for the industries that develop products for personalized medicine. This year, the conference will concentrate on the role of bioinformatics, data mining, and systems biology in advancing personalized medicine. Speakers and panelists are from Genentech, Burrill & Company, Navigenics, UCSF, Pathwork Diagnostics, and more. The conference is an opportunity to network with the scientists, employers, and business leaders driving the future of healthcare. [Conference info and registration]

Diabetes Drug May Enhance Activity of Anti-Cancer Vaccines

Researchers at the University of Pennsylvania and McGill University have shown that the widely prescribed diabetes drug metformin can boost the body’s immunological memory and thus increase the potency of anti-cancer vaccines. "We serendipitously discovered that the metabolizing, or burning, of fatty acids by T-cells following the peak of infection is critical to establishing immunological memory," noted lead author Dr. Erika Pearce. "We used metformin, which is known to operate on fatty acid metabolism, to enhance this process, and have shown experimentally in mice that metformin increases T-cell memory, as well as the ensuing protective immunity of an experimental anti-cancer vaccine." "Our findings were unanticipated, but are potentially extremely important and could revolutionize current strategies for both therapeutic and protective vaccines," said senior author Dr. Yongwon Choi. Metformin may also boost the immune response to infection-fighting vaccines. The findings were published online on June 3 in Nature. [Press release] [Nature abstract]

Insomniac Flies May Provide Clues to Human Sleep Disturbances

Scientists at the Washington University School of Medicine have created a line of fruit flies that sleeps for less than one tenth the time of normal fruit flies (one hour versus twelve hours). "Insomnia is a common and debilitating disorder that results in substantial impairments in a person's quality of life, reduces productivity, and increases the risk for psychiatric illness," said senior author Dr. Paul Shaw. "We think this model has clear potential to help us learn more about the causes of insomnia and someday develop ways to test for or treat them in the clinic." Earlier, Dr. Shaw’s lab had been the first to show that fruit flies enter a state of inactivity comparable to sleep. The researchers demonstrated that the flies have periods of inactivity during which greater stimulation is required to rouse them. Like humans, flies deprived of sleep one day will try to make up for it by sleeping more the next day. In the current work, the researchers created the line of “insomniac” flies by selective breeding of flies that naturally exhibited certain insomnia-like signs. These included difficulty in falling asleep under normal circumstances, and sleep that was often interrupted or fragmented. The researchers also used hyper-responsiveness to stimuli as a breeding guide. For example, if researchers turned on a light at night, insomniac flies woke and stayed up the rest of the night, while the healthy flies went back to sleep. The flies that stayed up were added to the breeding pool. Ultimately, this selective breeding resulted in a line of flies that sleeps for only one hour a day. This work will be published in the June 3 issue of the Journal of Neuroscience. [Press release]

New Arenavirus Is Cause of Fatal Fever Outbreak in Africa

Using unbiased high-throughput pyrosequencing, scientists have identified a new arenavirus as the cause of a highly fatal hemorrhagic fever outbreak in Zambia and South Africa in late 2008. At that time, five cases of undiagnosed hemorrhagic fever were recognized in South Africa after air transfer of a critically ill individual from Zambia. The disease was fatal in four of the five cases, including the originally infected individual, the paramedic who attended the patient during air transfer, the nurse who attended the patient in the intensive care unit, and a member of the hospital staff who cleaned the room after the death of the patient. The fifth case, a nurse who attended the paramedic one day before barrier nursing procedures were implemented, received anti-viral treatment (ribavirin) and recovered. The new virus, called Lujo virus after the sites of the outbreaks (Lusaka, Zambia, and Johannesburg, South Africa) is the first new hemorrhagic fever-associated arenavirus from Africa identified in nearly four decades. The virus is distantly related to the Lassa virus, also an arenavirus. The Lujo virus was identified with 72 hours of the receipt of specimens. According to the authors, their findings will enable the development of specific reagents to further investigate the reservoir, geographic distribution, and unusual pathogenicity of the Lujo virus. In addition, their results confirm the utility of unbiased high-throughput pyrosequencing for pathogen discovery and public health. The report of this work was published on May 29 in PLoS Pathology. [Press release] [PLoS Pathology article]

Light-Emitting Organ of Squid Also Senses Light

In addition to their prominent eyes that sense light, some squid have an organ that emits light. This light organ contains symbiotic luminous bacteria that produce light that is used by the squid to avoid predators. The light is believed to make the squid appear as bright as the ocean surface above them and thus obscure them from predators below. Now, researchers at the University of Wisconsin-Madison have obtained evidence that the light-emitting organ also senses light. "Until now, scientists thought that illuminating tissues in the light organ functioned exclusively for the control of the intensity and direction of light output from the organ, with no role in light perception," said lead author Dr. Margaret McFall-Ngai. "Now we show that the E. scolopes squid has additional light-detecting tissue that is an integral component of the light organ." Dr. McFall-Ngai added that "the tissues may perceive environmental light, providing the animal with a mechanism to compare this light with its own light emission." The findings may lead to future studies that provide insight into the mechanisms of controlling and perceiving light. The work was published in the June 2 issue of PNAS. [Press release]

Silver Nanoparticles Show Promise in Preventing Blood Clots

Working with mice, scientists have shown that the injection of silver nanoparticles 1/50,000 the diameter of a human hair can reduce the ability of platelets to clump together by more than 40 percent, with no apparent harmful side effects. The scientists suggested that such an approach might provide a new alternative to aspirin and other anti-platelet agents widely used to prevent blood clots in coronary artery disease, heart attack, and stroke. The authors noted that patients urgently need new anti-clotting agents because traditionally prescribed medications too often cause dangerous bleeding. At the same time, aging of the population, sedentary lifestyle, and spiraling rates of certain diseases have increased the use of these drugs. Researchers are presently seeking treatments that more gently orchestrate the activity of platelets, disk-shaped particles in the blood that can form clots. The nanoparticles "hold immense potential to be promoted as an antiplatelet agent," the researchers noted. "Nanosilver appears to possess dual significant properties critically helpful to the health of mankind—antibacterial and antiplatelet—which together can have unique utilities, for example in coronary stents." This study is scheduled for publication in the June 23 issue of the monthly journal American Chemical Society Nano. [Press release]

Ancient Skeleton Reveals Signs of Leprosy in India in 2000 B.C.

Previously, the earliest widely accepted evidence for leprosy was in Asian texts dated 600 B.C. Now, scientific analysis of an ancient male skeleton has revealed signs of leprosy infection and indicated that leprosy was present in India in 2000 B.C. The presence and patterning of lesions in the skeleton allowed a differential diagnosis for leprosy. These results represent the oldest documented skeletal evidence for the disease. Leprosy is a chronic infectious disease caused by Mycobacterium leprae that still today affects almost 250,000 people worldwide. The timing of first infection, the geographic origin, and the pattern of transmission of the disease are still under investigation. Comparative genomics research has suggested that M. leprae evolved either in East Africa or South Asia during the Late Pleistocene period before spreading to Europe and the rest of the World. The current work was published on May 27 in PLoS One. [PLoS One article]

Common Gene Variants Associated with Testicular Cancer

Testicular cancer is the most common cancer among young men between the ages of 15 and 40 and its incidence in non-Hispanic Caucasian men has doubled in the last 40 years. Researchers have now identified two common gene variants that are associated with increased susceptibility to this disease. This discovery lays the groundwork for genetic tests for susceptibility to testicular cancer which is over 90% curable if detected early. In a genome-wide association study, Dr. Katherine Nathanson, senior author of the report, and collaborators, found that men who have two copies of the common version of the c-KIT ligand (KITLG) gene have a 4.5-fold higher risk of testicular cancer than men who have two copies of the less common or minor version of the gene. Additionally, men with two copies of the common version of variants next to another gene, sprouty 4 (SPRY4), have a 1.48-fold higher risk than men with two copies of the less common version of this gene. "This finding is quite different than those observed in many other genome-wide association studies," Dr. Nathanson said. "In most studies, the increased risk of disease is associated with the less common variant of the gene. In this case, it is the more common variant in Caucasians that is associated with risk. If you carry two copies of the less common variant you are probably at incredibly low risk.” “Our observed strong association is intriguing and may reflect the impact of the genetic effect of KITLG," lead author Dr. Peter Kanetsky noted. "However, since the prevalence of the common variant is so high, it may also reflect other underlying factors required in conjunction with KITLG for disease development. This remains to be determined.” Additionally, the new findings may begin to explain why white men are more often diagnosed with testicular cancer than African American men.

Blue-Light Goggles May Address Sleep Disturbances in Elderly

Scientists have created a blue-light-emitting goggle and shown that it may be effective in addressing fitfulness of sleep in the elderly. In recent years, scientists at Rensselaer Polytechnic Institute’s Lighting Research Center (LRC), and elsewhere, have demonstrated that blue light is the most effective at stimulating the circadian system, when combined with the appropriate light intensity, spatial distribution, timing, and duration. In the current work, a team at the LRC has tested a goggle-like device designed to deliver blue light directly to the eyes to improve sleep quality in older adults. “The study suggests that the light goggles might be a practical, comfortable, and effective way to deliver light treatment to those suffering from circadian sleep disorders. The next steps are to conduct field studies where we will be testing the effectiveness of this personal light-treatment device on those suffering from circadian-related sleep disorders, while also verifying the acceptance of the device among the test groups,” said Dr. Mariana Figueiro, the lead author of the study published in Chronobiology International. [Press release] [Chronobiology International abstract]

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