Researchers ferret out function of autism gene

Scientists say mutations in one such autism-linked gene, dubbed NHE9, which is involved in transporting substances in and out of structures within the cell, causes communication problems among brain cells that likely contribute to autism.

Cashing In On Fears Of Autism: Scientists Claim They Can Predict Whether A Mom Will Have A Child With Autism

Autism has been the subject of much discussion and controversy in recent years. Rates of diagnosis are rising, and many parents-to-be are understandably worried. Despite the efforts of many good scientists, we still don’t have an explanation for most cases, although we do know that vaccines have nothing to do with it. Many unscientific claims are out there, some of them designed to take advantage of vulnerable parents who are desperate for answers. In this climate, any new claim to have found “the” cause of autism ought to be stated very, very carefully, and backed up by solid evidence.

Building the best brain: U-M researchers show how brain cell connections get cemented early in life

SIRP alpha, a protein found on the surface of various cells throughout the body, appears to play a key role in the process of cementing the most active synaptic connections between brain cells. The research, done in mouse brains, was funded by the National Institutes of Health and several foundations.The findings boost understanding of basic brain development – and may aid research on conditions like autism, schizophrenia, epilepsy and intellectual disability, all of which have some basis in abnormal synapse function.

UC Davis researchers find how viral infection disrupts neural development in offspring, increasing risk of autism

“This is the first evidence that neurons in the developing brain of newborn offspring are altered by maternal immune activation,” McAllister said. “Until now, very little has been known about how maternal immune activation leads to autism spectrum disorder and schizophrenia-like pathophysiology and behaviors in the offspring.”

Stunted neuron branching restored in mice

Brown University researchers have traced a genetic deficiency implicated in autism in humans to specific molecular and cellular consequences that cause clear deficits in mice in how well neurons can grow the intricate branches that allow them to connect to brain circuits.

Inducing and Augmenting Labor May be Associated with Increased Risk of Autism

The findings, published in JAMA Pediatrics on Aug. 12, 2013, do not prove cause and effect, but suggest the need for more research, particularly as labor induction and augmentation have been used more frequently in recent years. Expediting deliveries has benefitted women with health conditions that pose a risk to them and their unborn children. Inducing labor (stimulating contractions before the onset of spontaneous labor) and augmenting labor (increasing the strength, duration or frequency of contractions during labor) have been shown to prevent complications, including stillbirth.

Scripps Research Institute scientists find key signal that guides brain development

Scientists at The Scripps Research Institute (TSRI) have decoded an important molecular signal that guides the development of a key region of the brain known as the neocortex. The largest and most recently evolved region of the brain, the neocortex is particularly well developed in humans and is responsible for sensory processing, long-term memory, reasoning, complex muscle actions, consciousness and other functions.

How a cancer drug unties knots in the chromosome that causes Angelman and Prader-Willi syndromes

The research, published online today in Proceedings of the National Academy of Sciences (PNAS), found that the drug stabilizes the formation of strands of RNA that create RNA-DNA hybrids called ‘R-loops,’ in the Ube3a region of the gene15q11-q13. The gene is implicated in other neurodevelopmental disorders, including autism. About 1 percent of cases of autism are linked to duplications in 15q11-q13 or “Dup15q,” children that over-express Ube3a.