Another groundbreaking study thanks to brain tissue

Another groundbreaking study thanks to brain tissue

The media accurately described a recent study from Dan Geschwind’s lab at UCLA as “groundbreaking”.  That’s because the findings help people with autism better understand how and why their symptoms are different to other mental conditions, specifically bipolar depression and schizophrenia.  It turns out the gene expression patterns in the brains of people with autism are similar to those with bipolar depression and schizophrenia, but not alcoholism or major depression.   It also offers hope for a more accurate biological signature of autism that can be distinguished from bipolar depression and schizophrenia.    Below is a graph that represents these different profiles, and if you want to read a version of the article that is available online (but before it was peer reviewed in the journal Science) you can find it here: https://www.biorxiv.org/content/biorxiv/early/2016/02/18/040022.full.pdf Gandal

An ode to rats as animal models for autism

This week, the lab of Dr. Jill Silverman at UC Davis published a study that showed the most similar types of social communication deficits in an animal model.  Her group, led by Elizabeth Berg, used a rat model, rather than a mouse, because rats exhibit both receptive and expressive communication.  Through a collaboration within the UC Davis MIND Institute and Mount Sinai School of Medicine, she tested an animal model of autism that shows a lack of expression of SHANK3.  SHANK3 mutations are seen in those with Phelan-McDermid Syndrome as well as in 1% of people with autism.  This new study opens up new ways to understand autism symptoms in an animal model, and moves autism research using animals forward significantly.   The references mentioned in the podcast are:

 

https://www.ncbi.nlm.nih.gov/pubmed/29377611

https://www.ncbi.nlm.nih.gov/pubmed/29126394

https://www.ncbi.nlm.nih.gov/pubmed/27189882

The causes of social communication deficits in ASD

This week, former ASF fellow Katherine Stavropoulos from UC Riverside and Leslie Carver published data investigating what is the core cause of social communication deficits in autism.  Do people with autism show deficits in this area because they have a lack of motivation for social cues, or are social interactions just too overwhelming on their senses?  It turns out, both are true and this has direct implications for intervention methods.  Also, parents and siblings of people with autism show subtle symptoms of ASD without having a diagnosis.  This is called the broader autism phenotype, and a study by the Study to Explore Early Development led by Dr. Eric Rubenstein, demonstrated that parents of children with a particular group of symptoms are more likely to show this phenotype than other groupings.  You can read the full studies here:

 

https://molecularautism.biomedcentral.com/articles/10.1186/s13229-018-0189-5

https://www.ncbi.nlm.nih.gov/pubmed/29376397