Autism Research: April 3, 2015 Week in Review

ResearchScientists identify gene producing severe autism in females

A new study published this week in the prestigious journal Nature seems to have identified the gene which leads to the severe symptoms of autism in women, given autism is rare in women. The ratio of men to women having autism is a sharp 1:4 due to a protective effect of certain genes. Author Tychele Turner of the University of Washington said that their analysis of 13 women having severe symptoms of autism lead to the identification of a gene known as CTNND2. This gene had far more mutations in the study group than expected in a person with autism, leading the researchers to conclude its potential role in autistic severity of autism. They were able to replicate autism-like effects in zebrafish and mice by artificially mutating the gene. The findings are extremely exciting and has opened a whole new chapter for scientists to research upon in the field of ASD.

Journal Reference: Aravinda Chakravarti, McKusick-Nathans. April 2, 2015, Nature.

Father finds role of antibiotics in autism

When researcher and parent of a child with autism, John Rodakis saw that his son’s symptoms regressed with an antibiotic he took for a strep throat, he was set up on a path to identify if antibiotics could benefit the millions of children diagnosed with this condition. In his new study published in the journal Microbial Ecology in health and disease, he points towards a growing body of evidence that suggests that the gut flora might be an important source being overlooked in the hunt for the causes of autism. Rodakis along with Dr. Frye of the Arkansas Children’s Hospital Research Institute is working on uncovering the link between autism spectrum disorders and gut microbiome with a group of other experts in the field.

Journal reference: Rodakis, J. (2015). An n=1 case report of a child with autism improving on antibiotics and a father’s quest to understand what it may mean. Microbial Ecology In Health And Disease, 26. doi: http://dx.doi.org/10.3402/mehd.v%v.26382

‘Learning’ caught live as ‘lightning bolts’ in brain

Researchers from the NYU Langone Medical Center have made a leap as far human understanding of the human brain goes with this new study. A team of neuroscientists led by Wen-Biao Gan has been able to actually capture images of brain activity during the process of learning, giving clues as to how brains store and sort information. The study published this week in the top journal Nature found that spikes of calcium that were visible as bolts of lightning in the branching networks of brain cells called dendrites were responsible for formation and breakdown of neural connections that help learning. The sceitnists even uncovered a cell type that monitored these calcium spikes, which when disrupted led to loss of information learnt by the mice. These findings have great implications for children on the spectrum as it might help find specific methods to improve learning.

Journal Reference: Joseph Cichon, Wen-Biao Gan. Branch-specific dendritic Ca2 spikes cause persistent synaptic plasticity. Nature, 2015; DOI: 10.1038/nature14251

Microexons play key role in shaping brain

A team of researchers led by Ben Blencowe and Sabine Cordes from the University of Toronto have identified how microexons play a vital role in shaping the brain in early years, when neurodevelopmental disorders like autism occur. The findings of the study were published in the journal Genes and Development this week. The duo found that below normal levels of nSR100 gene led to dysfunction of the microexons, proteins that code for brain cells. Due to improper functioning of these tiny microexons, the exons which constitute a major part, still led to formation of mutated proteins. The team found that people with autism had lower levels of the gene and summed up that the microexons probably played a key role in development of autism.

Journal Reference: University of Toronto. (2015, April 1). Mighty microexons take center stage in shaping of the brain. ScienceDaily. Retrieved April 3, 2015 from www.sciencedaily.com/releases/2015/04/150401093631.htm