Designer molecules correct RNA splicing defects

With a high-tech fix for faulty cellular editing, scientists at Cold Spring Harbor Laboratory have moved a step closer to developing treatments for a host of diseases as diverse as breast cancer, muscular dystrophy, and cystic fibrosis. Many human diseases have been linked to defects in a cellular editing process called pre-messenger RNA splicing. Adrian Krainer, a molecular biologist at Cold Spring Harbor Laboratory, has spent years investigating this complex editing process, which takes the information coded in genes and makes it available for building proteins. In a new study published in the journal Nature Structural Biology, Krainer’s team has devised a clever way to correct RNA splicing defects implicated in breast cancer and spinal muscular atrophy (a neurodegenerative disease). In principle, the technique could provide the ability to correct RNA splicing defects associated with any gene or disease.

Person’s medical costs rise with increasing obesity

Overweight and obese individuals incur up to $1,500 more in annual medical costs than healthy-weight individuals, according to a two-year study of nearly 200,000 employees of General Motors. Average annual medical costs for normal weight individuals in the study were $2,225, while costs for overweight and obese individuals rose steadily, from $2,388 for overweight individuals to $3,753 for the most severely obese persons. The study, by Dee W. Edington, Ph.D., of the University of Michigan and colleagues, is the first to examine the relationship between medical costs and the six weight groups defined by the National Heart, Lung and Blood Institute’s weight guidelines. The guidelines separate individuals into categories of underweight, healthy-weight, overweight and three different obesity designations, based on average body mass index.

Interleukin-6 May Lead to Drugs That Prevent Brain Injury From Diseases, Aging

A Mayo Clinic investigation of Interleukin-6, a hormone inside cells often considered a “bad actor” of the immune system because of its association with inflammation injuries and malignant diseases, shows that it also plays a therapeutic role in mice: it protects brain cells. Interleukin-6 — called IL-6 for short by researchers — may, in fact, be a “white knight” for mouse brain cells, or neurons, as brain cells also are called. These results, while early, may be promising for humans as well. The Mayo Clinic investigation is described in the Jan. 15 Journal of Neuroscience.

U.S. gov’t targets autoimmune diseases in new research push

U.S. Health and Human Services Secretary Tommy G. Thompson has announced the release of a comprehensive research plan from HHS’ National Institutes of Health (NIH) to fight autoimmune diseases, a collection of disorders including multiple sclerosis and rheumatoid arthritis that affect an estimated 14 to 22 million Americans. The plan will foster research to identify genetic, environmental and infectious causes of autoimmune diseases and to develop new treatments and prevention strategies.

Is there a ‘Planet X’?

Forget about X-ray vision and gamma ray defence beams. Planet X isn’t a superhero home world but a hypothetical 10th planet in our solar system. “I think this question tends to be intriguing because of X – the unknown,” says astronomer John Percy. “But right now, we just don’t know if there is another planet lurking on the edges of the solar system.” Percy says there are thousands of small objects orbiting the Sun beyond Neptune and Pluto. Called Kuiper Belt Objects, astronomers do not consider these to be planets because of their relatively small size – the largest, Quaoar, is half the size of Pluto. They are icy and disintegrate if diverted by another cosmic body into an orbit closer to the Sun. If this occurs, he adds, they appear to us as comets.

Shear force of blood flow is crucial to embryonic heart development

A team of California researchers has imaged the blood flow inside the heart of a growing embryonic zebrafish. The results demonstrate for the first time that the very action of high-velocity blood flowing over cardiac tissue is an important factor in the proper development of the heart–a result that could have profound implications for future surgical techniques and even for genetic engineering.

Protein gene linked to unexplored light detection system in eye

Researchers have discovered that melanopsin, a recently identified protein, plays a key role in a completely new light detection system in the eye. Professor Russell Foster, from Imperial College London at the Charing Cross Hospital comments: “It had long been assumed that the rod and cone cells of the retina are responsible for all light detection. However, over the last few years research from our group has led us to the inescapable conclusion that there is a third light detection system that has lain undiscovered over more than 100 years of intensive research on the eye. Although we have known of their existence for several years, it has proved difficult to discover much more about these new receptors”.

Mutation in DKC1 Gene Can Cause Rare Aging Disease and Cancer

A rare genetic syndrome, Dyskeratosis Congenita (DC), may hold the key to understanding a mechanism that causes premature aging and cancer. Recreating DC in genetically altered knockout mice, researchers at Memorial Sloan-Kettering Cancer Center and colleagues proved that the disorder was caused, as theorized, by mutations in the DKC1 gene. Unexpectedly, they also showed that DC was caused by a disruption in ribosome function and not due to shortened telomeres (the distal end of a chromosome arm) as previously hypothesized. Their results, published in the January 10 issue of Science, may have implications for development of drugs that kill cancer cells by specifically targeting ribosomes, similar to the way ribosome targets have been key to the development of antibiotics for specific bacterial infections.

Researchers discover novel function of gene often associated with cancer

In an unusual disease known as Bloom syndrome, patients exhibit an extremely high incidence of cancers in many tissues. In fact, some experts consider Bloom syndrome to be among the most cancer-prone hereditary diseases known. Although the illness is rare, it fascinates scientists since it can teach them more about how cancers arise and how the body normally suppresses them. Information gleaned from studies of the syndrome should provide insights into other forms of cancer, they say. Now, working with fruit flies on the gene which, when mutated, causes Bloom syndrome in humans, scientists at the University of North Carolina at Chapel Hill have discovered more about the key mechanisms by which DNA inside cells is repaired.

Separated Before Birth: Molecular Signals Part Fetal Blood and Lymphatic Vessels

At some point in fetal development, cells from the newly emerged blood circulatory system start out on their own and form a separate parallel network of vessels known as the lymphatic system. In the January 10th issue of Science, researchers report the discovery of the molecular signals necessary to separate the lymph vessel network from the blood vessel network. Their findings clarify an important juncture in fetal development, shed light on the mechanisms by which molecular signals influence vascular development, pave the way for potential therapeutics, and may ultimately clear up a minor mystery among researchers that has been brewing since the mid-1990s.

Breast cancer risk clarified

Women diagnosed with a specific form of benign breast disease called atypical lobular hyperplasia (ALH) are at increased risk of developing breast cancer, but the risk is not the same for both breasts, researchers report this week. The findings, reported in the British medical journal The Lancet, challenge the long-held belief that the risk for breast cancer in women with this diagnosis was the same in both breasts, an assumption that could be used as an argument for double mastectomy to prevent cancer. Instead, the researchers found that women with this type of abnormality were three times more likely to develop breast cancer than are women without this diagnosis, and that three-fourths of subsequent breast cancers occurred in the same breast.

Researchers Identify Key Pathway in the Pupil’s Response to Light

Medical investigators have demonstrated that a particular protein is important for the eye’s pupil to respond to light. The discovery may help scientists learn more about the eye’s role in non-visual functions such as the synchronization of the body’s internal, circadian clock. Reporting in the Jan. 10 issue of the journal Science, the researchers say that mice that lack the two main types of photoreceptor cells in the retina ? rods and cones ? as well as proteins in the retina called cryptochromes, lose about 99 percent of their sensitivity to light.