Genetics & Molecular Biology

Researchers have identified a genetic mutation associated with the appearance of premature aging and severe loss of body fat in children.

Researchers at the Translational Genomics Research Institute (TGen) Center for Rare Childhood Disorders found that the appearance of premature aging, a neonatal form of Progeroid syndrome, in a 3-year-old girl was caused by a mutation in the gene CAV1, according to a study published in PLOS ONE. 

The human organism contains hundreds of distinct cell types that often differ from their neighbors in shape and function. To acquire and maintain its characteristic features, each cell type must express a unique subset of genes. Neurons, the functional units of our brain, develop through differentiation of neuronal precursors, a process that depends on coordinated activation of hundreds and possibly thousands of neuron-specific genes.
According to the World Health Organization, clinical depression carries the second heaviest burden of disability among all medical conditions worldwide (around 350 million people) and accounts for more than 8 percent of all U.S. years lived with disability. 

The findings of a recent study could potentially lead to new ways to predict risk for depression and treatments for the disease, using genome-wide association studies. 
A group of scientists at SISSA have proposed a quick alternative for predicting the internal dynamics of RNA molecules (how the different parts move in relation to each other). Their simple solution, which uses beads and springs, provides similar results to other, more complex and expensive techniques for analyzing molecules that are currently in use. 

Collectively, diseases of the airways such as emphysema, bronchitis, asthma, and cystic fibrosis are the second leading cause of death worldwide.

More than 35 million Americans alone suffer from chronic respiratory disease. Weizmann Institute of Science researchers have now proposed a new direction that could, in the future, lead to the development of a method for alleviating some of the suffering of these patients. The study’s findings show how it might be possible to use embryonic stem cells to repair damaged lung tissue.

The world population, which stood at 5 billion in 1950, will likely increase to 10.5 billion by 2050, meaning that the planet’s population will have doubled within the lifetimes of many people alive today.  

Beginning in the 1960s, environmental groups and their Doomsday Prophets, including Berkeley's Dr. Paul Ehrlich and current U.S. White House Science 'Czar' Dr. John Holdren, began projecting food riots and mass starvation and advocated for forced sterilization and other schemes to stave off the apocalypse.

The error-free distribution of genetic material during cell division is important for preventing the development of tumor cells. Prof. Erich Nigg’s research group at the Biozentrum, University of Basel, has uncovered a new important function of the human enzyme Plk1. It plays a significant role in monitoring chromosome segregation.

Researchers have discovered that chromosomes play an active role in animal cell division. This occurs at a precise stage – cytokinesis – when the cell splits into two new daughter cells.

It was observed by a team of researchers including Gilles Hickson, an assistant professor at the University of Montreal’s Department of Pathology and Cell Biology and researcher at the CHU Sainte-Justine Research Centre, his assistant Silvana Jananji, in collaboration with Nelio Rodrigues, a PhD student, and Sergey Lekomtsev, a postdoc, working in the group led by Buzz Baum of the MRC Laboratory for Molecular Cell Biology at University College London.

Using gene therapy, researchers at Boston Children's Hospital and Harvard Medical School have restored hearing in mice with a genetic form of deafness. Their work, published online July 8 by the journal Science Translational Medicine, could pave the way for gene therapy in people with hearing loss caused by genetic mutations.

"Our gene therapy protocol is not yet ready for clinical trials--we need to tweak it a bit more--but in the not-too-distant future we think it could be developed for therapeutic use in humans," says Jeffrey Holt, PhD, a scientist in the Department of Otolaryngology and F.M. Kirby Neurobiology Center at Boston Children's and an associate professor of Otolaryngology at Harvard Medical School.

Researchers have discovered that a human antibody specific to dengue virus serotype 2, called 2D22, protects mice from a lethal form of the virus -- and they suggest that the site where 2D22 binds to the virus could represent a potential vaccine target.

The mosquito-borne virus, which infects nearly 400 million people around the world each year, has four distinct serotypes, or variations, and there is currently no protective vaccine available.