Newfound genetic differences provide many hints at causes

Small differences in as many as a thousand genes contribute to risk for autism, according to a study led by Mount Sinai researchers and the Autism Sequencing Consortium (ASC), and published today in the journal Nature.

The new study examined data on several types of rare, genetic differences in more than 14,000 DNA samples from parents, affected children, and unrelated individuals – by far the largest number to date – to dramatically expand the list of genes identified with autism spectrum disorder (ASD).

CHOP scientist: Effects of decreased energy in cell metabolism reveal underlying role in aging and common disease

New work by a pioneering scientist details how subtle changes in mitochondrial function may cause a broad range of common metabolic and degenerative diseases. Mitochondria are tiny energy-producing structures within our cells that contain their own DNA.

Children with autism spectrum disorder (ASD) were more likely to have been exposed to higher levels of certain air toxics during their mothers' pregnancies and the first two years of life compared to children without the condition, according to the preliminary findings of a University of Pittsburgh Graduate School of Public Health investigation of children in southwestern Pennsylvania.

This research, funded by The Heinz Endowments, will be presented today at the American Association for Aerosol Research annual meeting in Orlando, Fla.

Scientists have described a way to convert human skin cells directly into a specific type of brain cell affected by Huntington’s disease, an ultimately fatal neurodegenerative disorder. Unlike other techniques that turn one cell type into another, this new process does not pass through a stem cell phase, avoiding the production of multiple cell types, the study’s authors report.

The researchers, at Washington University School of Medicine in St. Louis, demonstrated that these converted cells survived at least six months after injection into the brains of mice and behaved similarly to native cells in the brain.

Researchers recently found that an immune-system protein called MHCI, or major histocompatibility complex class I, moonlights in the nervous system to help regulate the number of synapses, which transmit chemical and electrical signals between neurons.

When it comes to the brain, "more is better" seems like an obvious assumption. But in the case of synapses, which are the connections between brain cells, too many or too few can both disrupt brain function.