Rooted in malfunctions in the tiny power plants that energize our cells, mitochondrial disorders are notoriously complex and variable, with few effective treatments. Now, novel findings in microscopic worms may hold great promise for children and adults with mitochondrial disorders. By using existing human drugs to improve metabolism and restore shortened lifespans in these laboratory animals, scientists have set the stage for human clinical trials of possible innovative therapies for mitochondrial disease.
Body
In a small study, Johns Hopkins researchers found that DNA from the sperm of men whose children had early signs of autism shows distinct patterns of regulatory tags that could contribute to the condition. A detailed report of their findings will be published online in the International Journal of Epidemiology on April 15.
The first-ever systematic study of the genomes of patients with ALK-negative anaplastic large cell lymphoma (ALCL), a particularly aggressive form of non-Hodgkin's lymphoma, shows that many cases of the disease are driven by alterations in the JAK/STAT3 cell signaling pathway. The study also demonstrates, in mice implanted with human-derived ALCL tumors, that the disease can be inhibited by compounds that target this pathway, raising hopes that more effective treatments might soon be developed.
Macrophages destroy bacteria by engulfing them in intracellular compartments, which they then acidify to kill or neutralize the bacteria. However, some pathogenic bacteria, such as Salmonella enterica, have evolved to exist and even grow while within these acidified compartments. Yet, how Salmonella responds to the acidic environment and how that environment affects the virulence of this pathogen are unclear.
You might think that you can get away with eating fatty foods for a few days without it making any significant changes to your body.
Think again.
After just five days of eating a high-fat diet, the way in which the body's muscle processes nutrients changes, which could lead to long-term problems such as weight gain, obesity, and other health issues, a new study has found.
Look at a primate or a Neanderthal skull and compare it with a modern human's. Notice anything missing?
We have one feature that primates, Neanderthals, archaic humans--any species, for that matter--don't possess: a chin.
"In some way, it seems trivial, but a reason why chins are so interesting is we're the only ones who have them," says Nathan Holton, who studies craniofacial features and mechanics at the University of Iowa. "It's unique to us."
In a recent study, Saint Louis University researchers found that salt pill consumption neither hurt nor helped performance for endurance athletes. Edward Weiss, Ph.D., assistant professor of nutrition and dietetics at Saint Louis University, cast doubts on the popular idea that salt consumption can help endurance athletes during competition in the the Journal of Sports Science and Medicine paper.
Skin is remarkably resistant to tearing and a team of researchers from the University of California, San Diego and the Lawrence Berkeley National Laboratory now have shown why.
New research reports that children with "bubble boy disease" who undergo gene therapy have fewer infections and hospitalizations than those receiving stem cells from a partially matched donor. The research is the first to compare outcomes among children with the rare immune disorder - also known as X-linked severe combined immunodeficiency (SCID-X1) - receiving the two therapeutic approaches.
In the most famous stories of Richard III, by William Shakespeare, he was noticeably repugnant both physically and mentally.
When a heart attack strikes, heart muscle cells die and scar tissue forms, paving the way for heart failure. Cardiovascular diseases are a major cause of death worldwide, in part because the cells in our most vital organ do not get renewed. As opposed to blood, hair or skin cells that can renew themselves throughout life, our heart cells cease to divide shortly after birth, and there is very little renewal in adulthood.
Researchers reveal how a protein linked to Meckel syndrome (MKS) and other human diseases regulates the membrane composition of cilia, finger-like projections on the surface of cells that communicate signals. The study appears in The Journal of Cell Biology.
MKS is a rare genetic disease characterized by kidney cysts, the presence of extra fingers and toes, and defects affecting several other organs. It is part of a class of disorders known as ciliopathies, meaning that it results from defects in the structure or function of cilia.
Human norovirus may infect our canine companions. That raises the possibility of dog-to-human transmission, said first author Sarah Caddy, VetMB, PhD, MRCVS, a veterinarian and PhD student at the University of Cambridge, and Imperial College, London, UK.
Norovirus is the leading cause of food-borne illness in the United States, according to the Centers for Disease Control and Prevention (CDC).
Making small, consistent changes to the types of protein- and carbohydrate-rich foods we eat may have a big impact on long-term weight gain, according to a new study led by researchers at the Friedman School of Nutrition Science & Policy at Tufts University. The results were published on-line this week in The American Journal of Clinical Nutrition.
Credit: Wikimedia
Our genetic cousins, mountain gorillas, have been the subject of ongoing conservation efforts for decades. Despite this there are fewer than 900 left in the wild because of poaching and habitat destruction. Now, genetic sequencing has revealed the toll these constant threats have taken on their genome.