Genes: the beginnings of autism treatment targets

This week’s podcast focuses on two studies that help illustrate why studying individuals with a specific genetic mutation, or animal models with a particular genetic mutation, are so important.  MSSM researchers focused on individuals with FOXP1 Syndrome, which has a high rate of autism and could be the focus of future treatments.  In the meantime, researchers at UTSW, led by ASF fellow Christine Ochoa Escamilla, identified a particular brain chemical responsible for changes in brain activity following mutations of chromosome 16.  About 1% of people with autism have mutations in this chromosome.  Application of a chemical to counteract this chemical then led to improvements in brain activity, opening up the door to new drug targets that affect some of the more severely affected individuals with ASD.

 

Here are the references:  https://www.ncbi.nlm.nih.gov/pubmed/29088697

https://molecularautism.biomedcentral.com/articles/10.1186/s13229-017-0172-6

Your taxpayer dollars at work in the Autism Centers for Excellence Awards

About two weeks ago, the National Institute of Health announced part of the government’s commitment to autism research through the ACE projects, or Autism Centers for Excellence.  Highly competitive and intensely scrutinized, these 5 year projects all investigates areas of autism aimed at helping people with ASD and their families.  This week’s podcast summaries them, discusses how they interact and complement each other, and explains how they are going to affect the lives of people with autism.

More on that Korea Daily mess. Plus early detection of ASD does improve outcomes.

This podcast was going to be dedicated to new early detection research which shows what the USPSTF has been looking for – the link between early detection, early intervention, and improved outcomes in a community setting.  Those findings are still included this week, but there is a slight diversion in theme.  The podcast will also include  an explanation of the immune/microbiome study published in Nature and misrepresented  by Korea Daily.  The study is important, however, the media sensationalized the findings and did the research no favors by labeling it a “major cause”.   Learn what the study did and what it actually discovered in this week’s podcast.

 

Here are the references of the studies mentioned in the podcast:

https://www.ncbi.nlm.nih.gov/pubmed/28902840

https://www.ncbi.nlm.nih.gov/pubmed/28905160

https://www.ncbi.nlm.nih.gov/pubmed/27474118

 

 

It’s not about THC, it’s about CBD (cannabinoids)

Parents of children with seizures are desperate to find something that will at the very least reduce the frequency of seizures in their kids.  Answers came in an unlikely place two months ago with the publication of a randomized clinical trial showing that seizures could be reduced with use of cannabinoids in kids with a condition called Dravet’s Syndrome.  Cannabinoids are one of the chemicals found in marijuana, and there are anecdotal reports on the use of marijuana or cannabinoids to treat autism.  Unlike THC, CBD (cannabinoids) do not cause euphoria or any psychoactive effects and are used exclusively for medicinal reasons.  This podcast summarizes current literature and also explains why it is so hard to study cannabinoids, including federal and state regulations and what needs to happen to open up this field of science

The Benefits of Being and Older Father

Advanced paternal age is one of the more replicated risk factors for autism – but maybe not autism as it as seen as a disorder.  Recent studies by Mount Sinai School of Medicine and Kings College of London show in both animal models and in epidemiological studies that advanced age in fathers is associated with the “active but odd” phenotype and PDD NOS.  In people, older (but not “old”) age in fathers led to increased IQ and social aloofness that led to higher academic achievement.  Is this autism?  Or just a subtype of autism where the outcomes are adaptive rather than maladaptive?  There are lots of questions about the nature of autism in these findings.

Exploiting genetics to understand environmental risks for autism

On March 13th, Dr. Mark Zylka from UNC gave a 60 minute overview of how researchers are using autism-relevant genetic mutations in cells to start to understand the interactions between genetics and thousands of environmental factors on gene expression.  He pointed out the convergence of pathways in how genes and these environmental factors worked in the brain, and they included:  neuroinflammation, early brain development, turning neurons on and off, and cell signaling.  Dr. Valerie Hu from George Washington University commented on the important impact of these results and perspective from her lab studying epigenetically modified genes, like RORA, which also may be sensitive to common chemicals found in our environment.  The entire webinar, including the questions that they were able to answer from participants, is found here.