Gene hunters at Johns Hopkins have discovered a common genetic mutation that increases the risk of inheriting a particular birth defect not by the usual route of disrupting the gene’s protein-making instructions, but by altering a regulatory region of the gene. Although the condition, called Hirschsprung disease, is rare, its complex genetics mimics that of more common diseases, such as diabetes and heart disease.

“It’s a funny mutation in a funny place,” says study leader Aravinda

A group of Japanese scientists has used gene therapy to deliver three insulin transcription factors, MafA, PDX-1, and NeuroD, to the livers of diabetic mice. As a result, the mice experienced an increase in insulin gene expression and insulin production, raising the possibility that this could eventually be used to treat diabetes. The research appears as the “Paper of the Week” in the April 15 issue of the Journal of Biological Chemistry, an American Society for Biochemistry and Molecular Biolo

Weizmann Institute Scientists Reveal the Shape of a Protein That Helps Retroviruses Break into Cells

Retroviruses are among the trickier and more malicious disease agents, causing AIDS and cancers such as leukemia. The viruses manage to sneak into cells with the help of special protein assemblies scattered all over their surfaces. These retrovirus surface proteins cause the membrane envelope of the virus to fuse with the membrane of the cell, spilling virus RNA into the cell to wr

Dutch-sponsored researcher Keshav Ruthiya has made considerable improvements to a so-called slurry bubble column. The chemical industry uses these bubble columns for reactions between gases and liquids, for example, for organic wastewater purification or the synthesis of hydrocarbons. Various companies are interested in using Ruthiya’s results in commercial reactors.

Ruthiya investigated how catalyst particles adhere to gas bubbles in a slurry bubble column. Slurry bubble columns ar

A team led by Dutch researcher Jan Boon from the Royal Netherlands Institute for Sea Research (Royal NIOZ) has discovered that one isomer of the toxic substance HBCD accumulates in dolphins and porpoises. The animals metabolise the other two isomers. HBCD has partially replaced other flame retardants already banned in Europe. However, according to the researchers it is still questionable whether HBCD is also less environmentally harmful. The results have just been published in the scientific jour

Researchers at Stockholm University have, together with colleagues in England, discovered a new way of treating and preventing hereditary breast cancer. The article, published in Nature, describes how the use of a chemical inhibitor can specifically kill tumour cells, which have a defect in the gene causing hereditary breast cancer. This new treatment targets only the tumour cells and is not likely to affect other healthy cells in the body. The discovery could also lead to a prophylactic treatme

Two new 250 million year-old species of large, meat-eating amphibians have been discovered by researchers, including investigators from McGill University. Their findings published in today’s issue of Nature, describe the first and oldest amphibious carnivores from the Republic of Niger in West Africa.

“This the first evidence of carnivores in this area,” says McGill paleontologist, and co-author, Hans Larsson. “This find is particularly interesting because the animals we found are

The success of personalised healthcare hinges on a better understanding of how microbes in the gut interact with different medicines report scientists from Imperial College London and Astra Zeneca.

Personalised medicine aims to provide medical treatment tailored more precisely to the individual, maximising efficacy while reducing the risk of an adverse reaction.

According to an article published this month in Nature Reviews Microbiology, the researchers believe that gut m

What causes an outbreak of tularaemia (rabbit fever) has until now been a mystery, and where the bacteria go between outbreaks is still unknown. Climatic factors have now been shown to be a possible trigger for outbreaks of the disease in a study carried out by Thomas Palo, Mid Sweden University, and Clas Ahlm and Arne Tärnvik, Umeå University.

The investigation, which is being published in the journal Ecology and Society, demonstrates that the incidence of the disease in humans corr

Mayo Clinic researchers have found that surgical removal of both ovaries doubles a woman’s risk of developing Parkinson’s disease and parkinsonism many years later in life. They also discovered that the younger a woman is at the time of the surgery, the higher her risk.

“The risk is higher for women with both ovaries removed; however, it may also be somewhat increased when only one ovary is removed,” says Walter Rocca, M.D., Mayo Clinic epidemiologist and lead study inv

Timing often matters when it comes to epileptic seizures that can occur after surgery designed to stop them. A multicenter study led by researchers at Jefferson Medical College has found that patients who had an initial seizure within the first four months of surgery were less likely to do as well in the long term as those individuals who did not.

“A patient has surgery to remove some brain tissue, hoping to cure his epilepsy, and has a seizure a week or a month or a year

Serious diseases have been shown to be related to unhealthy protein chains that occur when proteins fold ’incorrectly’. In an article in the scientific journal Proceedings of the National Academy of Science, PNAS, a research team from Uppsala University have shown that similar protein chains in our environment may hasten the process.

Under certain conditions, incorrectly folded proteins can transmit diseases from one individual to another. This is the mechanism in disea

NationaUnconventional wiring of the brain circuits that govern sleep and waking might explain the prevalence of insomnia and the condition’s association with obesity, according to new work published in the April issue of Cell Metabolism. Characterized by a chronic inability to fall asleep or remain sleeping, insomnia is estimated to affect one in every eight Americans.

By finding ways to interfere with that unconventional wiring, scientists may advance on new treatments fo

An ancient enzyme in the brains of mammals acts as an innate nutritionist of sorts, guiding them to make healthy choices about what to eat, according to new work published in the April issue of Cell Metabolism. The molecular mechanism is likely to be important in all mammals, including humans, that eat a varied diet comprised of meat and vegetables, the researchers said.

David Ron, of the New York University School of Medicine, and his colleagues found in mice that an enzyme known

Having vaccines developed by computer may sound unnerving but the increasing role of computer modelling in the development of new vaccines could bring new products onto the market quicker, benefiting patients and saving pharmaceutical companies millions of pounds.

Researchers using informatics and computer modelling can help scientists to uncover and harness the hidden patterns in the wealth of DNA and protein sequences that modern bioscience generates and cut the number of compoun

When Michael Oshinsky, Ph.D., gives his rats a headache, he has good reason.

The animals are helping Dr. Oshinsky, assistant professor of neurology at Jefferson Medical College of Thomas Jefferson University in Philadelphia, study how migraine treatments work. In recent experiments, the animals provided evidence showing that DHE, a standard drug currently used to treat acute migraine pain can also work against the onset of a phenomenon called “central sensitization,” or “allodynia,