A Genetic Tumor-promoter In a person with the rare genetic syndrome, Carney complex (CNC), tumors may grow in organs throughout the body, including the heart, skin, breast, nervous system, and endocrine glands (thyroid, pituitary, gonads, adrenal). Depending on their location, these tumors may be benign or malignant. The involvement of tumors in so many organs suggests to scientists that the genetic defects responsible for CNC may be key to the functioning of human cells generally. Recently, scientists identified two chromosomes that harbor the genes responsible for CNC. In one of these, chromosome 17, the scientists found agene that is mutated in about half of the families with CNC who were studied. The scientists then determined that the gene, known as PRKAR1A, is present in almost all human cells as a regulatory subunit of the important protein kinase A. The research indicates that when the regulatory action of PRKAR1A is disturbed, tumors form. Finding the CNC genes and understanding their role in tumor formation may eventually lead to new treatments for CNC and for other, non-genetic endocrine tumors.

Tracking Critical Processes inside Cells. Tracking cell growth and other functions as they occur within an individual cell is critical to understanding the processes underlying human health and disease. Scientists recently developed a versatile technique for studying signaling events within a single, living cell. "Signaling" refers to a process that begins when molecules outside a cell attach themselves (bind) to highly specific sites (receptors) on a cell's surface. Binding activates the receptors, which then send messages (signals) into the cell, initiatings equences of chemical changes. For example, when insulin molecules attach to their receptors, they activate pathways that instruct a cell to take in glucose and grow. The research team developed fluorescent "tags" that enable scientists to identify specific molecules that affect steps in the signaling process and to study the function of these molecules in normal and diseased cells. The technique has many potential applications. For example, it can help researchers identify mechanisms at the molecular level that could be targets for drugs to control human disease.

"Jumping Genes" and Therapeutic Possibilities. Genes contain information that tells the body how to make proteins, which perform many basic functions in the body, such as facilitating the synthesis of chemicals. The instructions for making proteins are stored ("encoded") only in certain regions of chromosomes; elsewhere, chromosomes are "silent," without such instructions. However, these silent regions contain transposable elements called transposons -nicknamed "jumping genes" - which can move about and insert themselves into encoding regions of chromosomes. In certain cases, the insertion of a transposon may be linked to a genetic disease. Otherwise, the jump of transposons into the protein-encoding regions has been considered both infrequent and inconsequential. Recently, however, scientists reported that seemingly unimportant transposons were embedded in protein-coding regions, without causing genetic disease, far more frequently than was previously thought. The scientists hypothesize that these transposon insertions may have a positive effect, possibly conferring a survival advantage on organisms that have them. If scientists can insert transposons into genes, they may be able to produce novel proteins, possibly leading to new therapies for a variety of diseases.

Uterine Activity Monitors and Preterm Birth. Preterm (premature) birth complicates nearly 12 percent of all births[1] and premature infants are at very high risk of dying within a few days of birth or of surviving with life-long disabilities. Because increased uterine contractions sometimes precede early delivery, women at risk of preterm birth are commonly asked to wear a portable device that monitors uterine contractions. But the usefulness of these devices, known as home uterine monitors (HUMs), has been questioned as previous studies had shown that altered rates of uterine contractions occur in both women who do, and who do not, give birth prematurely. Scientists recently reported that HUMs could not reliably predict which women, with known risk factors, would actually deliver prematurely. This research affirmed earlier, negative findings on HUMs in smaller groups of women. Because the costly devices may be used for several months, discontinuing the use of HUMs should result in considerable savings to third-party payers as well as to individual families, who may pay out-of-pocket for the devices.