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Seizures and the after-effects depends on genetics

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In recognition of epilepsy awareness month, this week we are interviewing Jill Silverman and Nycole Copping from UC Davis who published a paper looking at the causes and consequences of seizures across 3 different strains of mice, which are identical all but their background genetics.  This is important because new animal models of autism are built upon these different background strains, but very little work has been done to really understand how these different tiny changes in genetic background influences response to an environmental factor.  In this study the environmental factor was a drug that produces seizures.  Two out of the three strains showed seizures and all three showed some behavioral after-effects of the seizure – inducing drug.  Therefore, differences in background genetics influenced the outcome of the mice, an effect that is rarely studied.  The authors point out what these behaviors are, what they mean, and why animal models are important for understanding ASD and seizures.

https://www.ncbi.nlm.nih.gov/pubmed/31698263

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Are animal models for ASD a monkey wrench or useful tool?

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A new animal model of autism appeared this week:  the monkey.  This adds to the ever growing list of different model systems from autism, from fruit flies to mice and rats now up to monkeys.  Are these animal models useful and for what, and why isn’t there just ONE model of autism rather than the dozen that exist?  This week’s podcast discusses research from scientists at the UC Davis MIND Institute and what they are doing to improve these models of ASD.

https://www.spectrumnews.org/features/multimedia/webinars/webinar-jill-silverman-makes-case-rat-models-autism/

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5810939/pdf/nihms906435.pdf

http://news.mit.edu/2019/gene-editing-autism-model-0612

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Yeah, another study about autistic poop

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This week’s podcast includes a summary of the new study, this time in an animal model, looking at microbiome transplantation.  Because this was more of an experimental model, the researchers could be more rigorous in their design and look at things like behavior, brain activity, and specific biological pathways.  While a mouse does not have autism, transplantation of the autism microbiome resulted in autistic-like behaviors.   Second, a hopeful message of the value of participating in research on outcomes – those infants that were tracked prospectively showed improved outcomes later on, suggesting that all of the extra attention they get leads to a reduction in symptoms and an improvement in adaptive behavior.  Even if you do not have a family history of autism – participate in research.  It’s good for your child, and it’s good for other people’s children.

 

https://www.cell.com/cell/fulltext/S0092-8674(19)30502-1 

https://www.ncbi.nlm.nih.gov/pubmed/31032937

 

 

 

 

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Genes and Environment, Genes and Environment. Go together like aging and retirement.

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Twins with autism, where either one or both is diagnosed, is crucial to understand the role of genetics and the environment to both autism diagnoses and now, autism traits.  In a study this week, researchers using data from the California Twins Study examined the genetic and environmental influences of brain development in multiple regions and measures.  While estimates of genetic and environmental influences can only be modeled in twins, they can be experimentally tested in animal models.  Researchers at the University of Washington investigate what causes the link between air pollution in humans and autism by studying diesel fuel exhaust in pregnant mice.  Finally, across all of these disparate animal studies – does anything pull them together.  Are these models all one-offs or do they have anything in common?  It turns out disruption in normal brain activity is one thing that they have in common, and something that is at the common core of ASD neurobiology.

 

https://www.ncbi.nlm.nih.gov/pubmed/30659287

https://www.ncbi.nlm.nih.gov/pubmed/30668980

https://www.ncbi.nlm.nih.gov/pubmed/30679017

 

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Reusing and recycling autism data from brain tissue

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In a new study in animal models, researchers demonstrate how genetic variability in key risk genes leads to different brain development patterns.  Studying the brains of people with autism is challenging, since there are fewer resources to study.  However, scientists get creative and collaborative and re-analyze datasets previously published to look at different research questions.  That’s what happened this week in a collaboration between Brown University and UCLA, showing that as the activity of genes which controls the synapse goes down, so do genes affecting mitochondrial function.  Another brain tissue study showed that the stress of the endoplasmic reticulum, which is associated with the mitochondria, may be elevated.  Not all research data can be re-purposed again, which is why it is so important to study the brains of people with autism.  If you would like to learn more, go to www.takesbrains.org/signup

 

https://www.ncbi.nlm.nih.gov/pubmed/29859039

https://www.ncbi.nlm.nih.gov/pubmed/29761862

https://www.ncbi.nlm.nih.gov/pubmed/29901787

https://www.ncbi.nlm.nih.gov/pubmed/29926239

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An ode to rats as animal models for autism

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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

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Genes: the beginnings of autism treatment targets

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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

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

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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.

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

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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

 

 

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

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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