A UT Dallas undergraduate's research is revealing new information about a key protein's role in the development of epilepsy, autism and other neurological disorders. This work could one day lead to new treatments for the conditions. Senior neuroscience student Francisco Garcia has worked closely with Dr. Marco Atzori, associate professor in the School of Behavioral and Brain Sciences (BBS), on several papers that outline their findings about interleukin 6 (IL-6) and hyper-excitability. An article on the project is slated for publication in Biological Psychiatry later this year. Scientists know that stress elevates the levels of pro-inflammatory cytokines (signaling molecules used in intercellular communication) and promotes hyper-excitable conditions within the central nervous system. This hyper-excitability is thought to be a factor in epilepsy, autism and anxiety disorders.
Often, children with autism have difficulties developing motor skills, such as throwing a ball, learning how to write, or running. However, a study published in the journal Autism, suggests that autism itself, not genetics, may be to blame. The research was conducted at Washington University School of Medicine in St. Louis. Claudia List Hilton, Ph.D., lead researcher of the study, assistant professor in occupational therapy and an instructor in psychiatry, explained: "From our results, it looks like motor impairments may be part of the autism diagnosis, rather than a trait genetically carried in the family. That suggests that motor impairments are a core characteristic of the diagnosis." 144 children from 67 families, in which at least one child had a diagnosis of autism spectrum disorder, in addition to at least one biological sibling in the same age group, were enrolled to participate in the study.
A new study published in PLoS Genetics uses a combination of genetic and neurobiological approaches to confirm that synaptic mutations increase the risk of autism spectrum disorders (ASDs) and underlines the effect for modifier genes in these disorders. ASDs, a heterogeneous group of neurodevelopmental disorders that have a complex inheritance pattern, appears before the age of three years and affects 1 in 100 children, with a higher risk for males than females. The disorder is characterized by impairments in social interaction and communication as well as by restricted and repetitive behavior. Scientists have identified several genes involved in ASD in those who have been diagnosed. However, understanding of their effects on neuronal functions and their interaction with other genetic variations has only recently been learnt.
A new study led by the University of North Carolina at Chapel Hill found significant differences in brain development starting at age 6 months in high-risk infants who later develop autism, compared to high-risk infants who did not develop autism. "It's a promising finding, " said Jason J. Wolff, PhD, lead author of the study and a postdoctoral fellow at UNC's Carolina Institute for Developmental Disabilities (CIDD). "At this point, it's a preliminary albeit great first step towards thinking about developing a biomarker for risk in advance of our current ability to diagnose autism." The study also suggests, Wolff said, that autism does not appear suddenly in young children, but instead develops over time during infancy. This raises the possibility "that we may be able to interrupt that process with targeted intervention, " he said.
Mice genetically engineered to be susceptible to autism-like behaviors that were exposed to a common flame retardant were less fertile and their offspring were smaller, less sociable and demonstrated marked deficits in learning and long-term memory when compared with the offspring of normal unexposed mice, a study by researchers at UC Davis has found. The researchers said the study is the first to link genetics and epigenetics with exposure to a flame retardant chemical. The research was published online in the journal Human Molecular Genetics. It was presented during a symposium at the annual meeting of the American Association for the Advancement of Science (AAAS) by Janine LaSalle, a professor in the Department of Medical Microbiology and Immunology in the UC Davis School of Medicine and the UC Davis Genome Center.