Autism Research: 29 May,2015 Week in Review

ResearchResearchers identify way to mutate and undo mutation of autistic behavior

In a ground breaking new research, scientists have identified a way to induce a genetic mutation in mice that produces autism-like behaviors and created therapeutic models to undo it as well. The study was led by Zhen Yan at the University of Buffalo and published this week in the journal Cell Reports. The paper describes loss of the gene Shank3, which has been shown to lead to ASD in about 84% people. The researchers figured that on returning the activity of other neural regulators like cofilin etc, the autism-like behaviors were totally reversed.

Journal Reference: Lara J. Duffney, Ping Zhong, Jing Wei, et al. Autism-like Deficits in Shank3-Deficient Mice Are Rescued by Targeting Actin Regulators. Cell Reports, May 2014 DOI: 10.1016/j.celrep.2015.04.064

Poor sleep affects cognitive performance in children with autism

A new study conducted by the University of Montreal, Canada has found that just a night of poor sleep reduced significantly the intelligence test performances in neurotypical children and children on the spectrum. The study published this week was led by Sophie Tessier and featured in the journal International Journal of Psychophysiology . the researchers found that verbal IQ tests showed poorer performances in children who slept poorly the night prior to the test, throwing light on the importance of sleep in cognitive development.

Journal Reference: Sophie Tessier, Andréane Lambert, et al. Intelligence measures and stage 2 sleep in typically-developing and autistic children. International Journal of Psychophysiology, 2015; 97 (1): 58 DOI: 10.1016/j.ijpsycho.2015.05.003

Difference in levels of protein RORA hints towards autism gender bias

Researchers from the George Washington University have identified an important biomarker that is giving new clues towards the male predilection for autism. A team of neuroscientists led by Valerie Hue found significant differences in tissue levels of the protein RORA in the male and female brains that they studied. Typically developing females had higher levels of RORA protein in the frontal cortex part of the brain compared to typical males, and both of these were higher than males and females with autism. The study was published this week in the journal Molecular Autism.

Journal Reference: Valerie W Hu et al. Investigation of sex differences in the expression of RORA and its transcriptional targets in the brain as a potential contributor to the sex bias in autism. Molecular Autism, May 2015 DOI: 10.1186/2040-2392-6-7

Zebrafish models give new genetic clues to autism

Researchers from the University of Miami are using animal models of the versatile zebrafish to identify how suboptimal functioning of the genes SHANK3 and SYNGAP1 increase risk for autism. A team of researchers led by Julia Dallman found that disruption of either of the genes affected development of the midbrain and hindbrain areas leading to hyper-excitability in behavior. The study published this week in the journal Human Molecular Genetics has opened a new channel for other researchers to work on autism, utilizing the zebrafish.

Journal Reference: R. A. Kozol, H. N. Cukier, B. Zou, et al. Two knockdown models of the autism genes SYNGAP1 and SHANK3 in zebrafish produce similar behavioral phenotypes associated with embryonic disruptions of brain morphogenesis. Human Molecular Genetics, 2015; DOI: 10.1093/hmg/ddv138

3D simulator mimics ‘noisy secrets’ of the autism brain

Neuroscientists from the Bar-Ilan University have published new findings on the inner workings of an autistic brain using a 3D simulator device that studied 36 participants. Published this week in the journal Proceedings of the National Academy of Sciences, the study was led by author Adam Zaidel and others, the study has challenged multiple deep rooted theories of sensory integration in ASD. The researchers in fact, showed that the participants with autism showed near equal to better multisensory integration compared to the control group of typical peers.

Journal Reference: Adam Zaidel, Robin P. Goin-Kochel, Dora E. Angelaki. Self-motion perception in autism is compromised by visual noise but integrated optimally across multiple senses. Proceedings of the National Academy of Sciences, 2015; 201506582 DOI: 10.1073/pnas.1506582112