ASD tagged posts

Brain changes in autism are comprehensive throughout the cerebral cortex rather than just particular areas thought to affect social behavior and language, according to a new UCLA-led study that significantly refines scientists’ understanding of how autism spectrum disorder (ASD) progresses at the molecular level.

The study, published today in Nature, represents a comprehensive effort to characterize ASD at the molecular level...

Highlights •Systems-level approach reveals GATA4 roles in human cardiac development and function •Heterozygous GATA4 missense mutation impairs cardiac gene program •GATA4 G296S mutation disrupts TBX5 genome occupancy at cardiac super-enhancers •PI3K signaling is a key “hub” in the GATA4 gene regulatory network

Scientists linked a single gene mutation to 2 types of heart disease: one causes a hole in the heart of infants, and the other causes heart failure. Using cells donated by a family with the mutation, the researchers gained insight into congenital heart disease, heart development, and healthy heart function...

This image shows induced pluripotent stem cell-derived neural progenitor cells after neuronal differentiation. The neurons express a pan neuronal marker Map2 in green and a percentage of the cells express a marker for inhibitory neurons, GABA, in red. The cells’ nuclei are stained blue. Credit: UC San Diego Health

The vast majority of cases of ASD are idiopathic (cause unknown). Researchers have created a “mini-brain” model, derived from persons with a particular form of idiopathic ASD characterized by over-sized brains, revealing a defective molecular pathway during brain development that results in early neuronal overgrowth and dysfunctional cortical networks...

Luigi Puglielli working in the lab. Credit: Clint Thayer, UW-Madison School of Medicine and Public Health Department of Medicine

A new mouse model is the first to show that when more of acetyl-CoA moves between different parts of nerve cells in the mouse brain, it can lead to behaviors that resembles some aspects of autism spectrum disorder (ASD) in humans. Acetyl-CoA, is a major part of the process cells use to make energy from food. It’s also used within cells to tag different proteins, which influences where and how they function. Local concentrations of acetyl-CoA and its movement, or flux, between different areas within cells is tightly regulated.

“We show, for the very first time, that changes in acetyl-CoA flux, and not just changes in its levels, in individual neurons can affect ne...