CHOP-led study suggests pathway common to autism, other disorders; hints at drugs to target overlapping illnesses

Children born with a DNA abnormality on chromosome 16 already linked to neurodevelopmental problems show measurable delays in processing sound and language, says a study team of radiologists and psychologists.

By strengthening the case that the deleted gene disrupts a key biological pathway, the research may lay the foundation for future medical treatments for specific subtypes of autism, along with cognitive and language disabilities.

A baby’s brain needs love to develop. What happens in the first year is profound.

In the late 1980s, when the crack cocaine epidemic was ravaging America’s cities, Hallam Hurt, a neonatologist in Philadelphia, worried about the damage being done to children born to addicted mothers. She and her colleagues, studying children from low-income families, compared four-year-olds who’d been exposed to the drug with those who hadn’t. They couldn’t find any significant differences. Instead, what they discovered was that in both groups the children’s IQs were much lower than average.

This research, to be published the January 7, 2015 issue of Neuron, illuminates decades of mystery behind the precision and efficacy of neurotransmitter release, suggesting how signaling changes as an animal matures.

Behind all motor, sensory and memory functions, calcium ions are in the brain, making those functions possible. Yet neuroscientists do not entirely understand how fast calcium ions reach their targets inside neurons, and how that timing changes neural signaling. Researchers at the Okinawa Institute of Science and Technology Graduate University have determined how the distance from calcium channels to calcium sensors on vesicles affects a neuron’s signaling precision and efficacy.

A study led by researchers from the University of Toronto and involving the Centre for Genomic Regulation in Barcelona has described a group of small DNA fragments that are key in neurone regulation and maturity

The genome is the cell’s book of instructions. All the cells in our body contain the same genomic information but each of them “reads” the gene fragments that interest them in order to carry out their function. So, neurones, hepatocytes and cardiac cells are different although their genome is the same. In order to achieve this huge variety of functions from the same genome, the cells employ a mechanism known as alternative splicing.

Finding caps 3 years of research led by biochemists at NYU Langone Medical Center

Chemical modifications to DNA’s packaging — known as epigenetic changes — can activate or repress genes involved in autism spectrum disorders (ASDs) and early brain development, according to a new study to be published in the journal Nature on Dec. 18.

Biochemists from NYU Langone Medical Center found that these epigenetic changes in mice and laboratory experiments remove the blocking mechanism of a protein complex long known for gene suppression, and transitions the complex to a gene activating role instead.