May 31, 2018

ResearchAutism biomarker might help better diagnosis

A path breaking new study from the prestigious University of California, Irvine has identified a new biomarker that might aid in diagnosing the rapidly spreading neurodevelopmental disorder. Headed by Dr. J. Jay Gargus, and team from the UCI, the study identified a vital defect in the signaling system of the membranes of cells. Researchers are confident that this is not just a potential biomarker, but also a possible therapeutic target in the future. The scientists identified that a receptor called the IP3R had a highly altered calcium signaling process in the skin samples of the patients of Fragile X Syndrome and Tuberous Sclerosis that they studied. The study which was published this week in the journal Translational Psychiatry, a Nature publication is one of the newer lot of studies that is studying smaller cellular organelles like the endoplasmic reticulum that have hitherto been ignored. Many genes that have been associated with autism spectrum disorders in the past have been found to be a part of this signaling pathway and might be converging to produce an amplified final effect in brain functioning. Such a convergence was detected by the scientists in the IP3R. With greater research on larger population of children, the findings of this study might help in translating into concrete clinically beneficial outcomes.

Journal Reference: G Schmunk, B J Boubion, I F Smith, I Parker, J J Gargus. Shared functional defect in IP3R-mediated calcium signaling in diverse monogenic autism syndromes. Translational Psychiatry, 2015; 5 (9): e643 DOI: 10.1038/tp.2015.123

Exergaming beneficial for physical and mental fitness in autism children

A new study by the University of Texas, Medical branch at Galveston has found that games do not just help improve mental fitness in children on the spectrum, but can also be beneficial aids in improving physical fitness. The study that was published this week in the journal International Journal for Sports and Exercise Medicine was led by Claudia Hilton and team. The study utilized Makoto arena for the same. The Makoto arena is a triangular area with pillars on each point of the triangle, equipped with sounds and lights at various levels on the pillars. The children playing the game had to aim and hit the correct spots to light them up. The study found that this play helped improve motor as well as executive functioning that is needed to plan and organize. Executive functioning is extremely important to live as independent adults. More games like the Makoto arena could be designed and used to help improve physical fitness and executive functioning in individuals on the spectrum to help achieve a more independent life.

Journal Reference: Claudia L. Hilton. Exergaming to Improve Physical and Mental Fitness in Children and Adolescents with Autism Spectrum Disorders: Pilot Study. International Journal for Sports and Exercise Medicine, August 2015

Rare spontaneous mutations cause half of autism cases

A team of researchers led by Ivan Iossifov at the Cold Spring Harbor Laboratory published a study this week in the journal PNAS stating its findings from a rigorous genetic analysis. The study found that ultra rare genetic mutations were responsible for almost a half of all autism cases as against hereditary transmission of mutated genes, which has been long thought as the chief cause of autism. The study narrowed down a list of about 500 genes to 200 most likely genes that might causing autism spectrum disorders.

Journal Reference: Low load for disruptive mutations in autism genes and their biased transmission. Proceedings of the National Academy of Sciences. September 21, 2015.


About the author 

Igor Berezner

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