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Archive - Sep 24, 2012

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First-Ever Treatment for Premature Aging Disease Shows Promise in Clinical Trial

Results of the first-ever clinical drug trial for children with progeria, a rare, fatal "rapid-aging" disease, demonstrate the efficacy of a farnesyltransferase inhibitor (FTI), a drug originally developed to treat cancer. The clinical trial results, achieved only six years after scientists identified the genetic cause of progeria, included significant improvements in weight gain, bone structure and, most importantly, the cardiovascular system, according to The Progeria Research Foundation (PRF) and Boston Children's Hospital. The study results were published online in an open article on Septermber 24, 2012 in PNAS. Progeria, also known as Hutchinson-Gilford Progeria Syndrome (HGPS), is a rare, fatal genetic disease characterized by an appearance of accelerated aging in children. All children with progeria die of the same heart disease that affects millions of normal aging adults (atherosclerosis), but instead of occurring at 60 or 70 years of age, these children may suffer heart attacks and strokes as early as age 5 years, with the average age of death at 13 years. "To discover that some aspects of damage to the blood vessels in progeria can not only be slowed by the FTI called lonafarnib, but even partially reversed within just 2.5 years of treatment is a tremendous breakthrough, because cardiovascular disease is the ultimate cause of death in children with progeria," said Leslie Gordon, M.D., Ph.D., lead author of the study, medical director for the PRF, and mother of a child with progeria. In addition, Dr. Gordon is a staff scientist at Boston Children's Hospital and Harvard Medical School, and an associate professor at Hasbro Children's Hospital and Alpert Medical School of Brown University.

New Peptide-Enclosed Vesicles Have Potential for Targeted Drug Delivery

For the first time, researchers at Kansas State University and Jikei University in Japan have designed and created a bounded vesicle formed entirely of peptides -- molecules made up of amino acids, the building blocks of protein. The vesicle could serve as a new drug delivery system to safely treat cancer and neurodegenerative diseases. The study, led by Dr. John Tomich, professor of biochemistry at Kansas State University, was published on September 18, 2012 in the journal PLoS ONE, and a patent for the discovery is pending. The peptides are a set of self-assembling branched molecules made up of naturally occurring amino acids. The chemical properties of the peptides create a vesicle that Dr. Tomich describes as a bubble: It's made up of a thin membrane and is hollow inside. Created in a water solution, the bubble is filled with water rather than air. The peptides -- or bubbles -- can be made in a solution containing a drug or other molecule that becomes encapsulated as the peptides assemble, yielding a trapped compound, much like a gelatin capsule holds over-the-counter oral remedies. The peptide vesicles could be delivered to appropriate cells in the body to treat diseases and minimize potential side effects. "We see this as a new way to deliver any kind of molecule to cells," Dr. Tomich said. "We know that in certain diseases subpopulations of cells have gone awry, and we'd like to be able to specifically target them instead of attacking every cell, including healthy ones." The finding could improve gene therapy, which has the potential to cure diseases by replacing diseased cells with healthy ones. Gene therapy is being tested in clinical trials, but one of the biggest challenge is how best to deliver the genes.

Back Pain Gene Identified

Researchers at King’s College London have for the first time identified a gene linked to age-related degeneration of the intervertebral discs in the spine, a common cause of lower back pain. Costing the UK an estimated £7billion a year due to sickness leave and treatment costs, the causes of back pain are not yet fully understood. Until now, the genetic cause of lower back pain associated with lumbar disc degeneration (LDD) was unknown, but the largest study to date, published online on September 19, 2012 in the journal Annals of Rheumatic Diseases, has revealed an association with the PARK2 gene. Mutations in this gene are already known to cause a familial form of Parkinson's disease known as autosomal recessive juvenile Parkinson disease. The researchers, funded by the Wellcome Trust and Arthritis Research UK, say more research into this surprising association needs to be carried out in order to fully understand how it is triggered, but this new finding could ultimately pave the way towards developing new treatments in the future. LDD is a common age-related trait, with over a third of middle-aged women having at least one degenerate disc in the spine. Discs become dehydrated, lose height and the vertebrae next to the discs develop bony growths called osteophytes. These changes can cause or contribute to lower back pain. LDD is inherited in between 65 – 80 per cent of people with the condition, suggesting that genes play a key role. Scientists compared MRI images of the spine in 4,600 individuals with genome-wide association data, which mapped the genes of all the volunteers. They identified that the gene PARK2 was implicated in people with degenerate discs and could affect the speed at which they deteriorate. The researchers say the results show that the gene may be switched off in people with LDD.

Harvard Researchers Engineer Highly Versatile “Origami” Fluorescent Barcodes

Much like the checkout clerk uses a machine that scans the barcodes on packages to identify what customers bought at the store, scientists use powerful microscopes and their own kinds of barcodes to help them identify various parts of a cell, or types of molecules at a disease site. But their barcodes only come in a handful of "styles," limiting the number of objects scientists can study in a cell sample at any one time. Researchers at the Wyss Institute for Biologically Inspired Engineering at Harvard University have created a new kind of barcode that could come in an almost limitless array of styles -- with the potential to enable scientists to gather vastly more vital information, at one given time, than ever before. The method harnesses the natural ability of DNA to self-assemble, and was reported on September 24, 2012 in the online issue of Nature Chemistry and in the October 2012 print issue of the same journal. "We hope this new method will provide much-needed molecular tools for using fluorescence microscopy to study complex biological problems," says Dr. Peng Yin, Wyss core faculty member and study co-author who has been instrumental in the DNA origami technology at the heart of the new method. Fluorescence microscopy has been a tour de force in biomedical imaging for the last several decades. In short, scientists couple fluorescent elements -- the barcodes -- to molecules they know will attach to the part of the cells they wanted to investigate. Illuminating the sample triggers each kind of barcode to fluoresce at a particular wavelength of light, such as red, blue, or green -- indicating where the molecules of interest are. However, the method is limited by the number of colors available -- three or four -- and sometimes the colors get blurry.