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The Transcription Factor Song

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Very rarely are scientists able to look at single genes within the brains of people across neuropsychiatric disorders and understand how the genes in each of these cells influence expression of proteins and interactions of different cells with each other. Recently, a collaboration called PsychENCODE released a series of papers that investigated what genes are expressed in what cells in autism in different situations, how cells that communicate interact with more support or glial cells, and what mechanisms are in place to identify ways in which the broad environment (chemicals, contextual factors, illness) may influence gene expression leading to disorders like autism, schizophrenia and bipolar disorder. This podcast summarizes these papers as they are related to autism – ore at least tries to.

https://www.psychencode.org/phase-ii

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Top reasons to study the autistic brain

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There are dozens of good reasons why scientists need to study the brains of people with autism. One is to understand what happens in the brain as people with autism get older and see how the brain changes over time. Another is to identify mechanisms of autism to help all neuroscientists figure out how the brain works. A third is improve medicine by determining what helps what people at what age. Scientists @UCDavis, @Penn and @UCLA examined the individual brain cells of people with autism to address these three questions, revealing that the autistic brain shows some similarities to brains of people with Alzheimer’s Disease. In addition, inflammation seen in the brain may be caused by too much activity of cells talking to each other. Studying the brains of people with autism is essential to better understanding and is made possible by families who are committed to research. www.autismbrainnet.org.

https://pubmed.ncbi.nlm.nih.gov/36862688/

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The newest on using genes to predict later diagnosis and those immune blebs in the brain

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Hot off the press:  new data from a collaboration between the BSRC and geneticists in Canada demonstrate the utility of genetics to predict either ASD or atypical development in infant siblings of children already with a diagnosis.  Researchers have been trying to develop more precise biological mechanisms to make predictions in these infants, because they have a 15x greater chance of having a diagnosis, they can’t afford a “wait and see” approach.  Also, while genetics had originally been thought to be irrelevant to some brain pathology in ASD, it’s now been shown possible that it contributes to the immune hyper activation in the brain.  This week, Dr. Matt Anderson from the Autism BrainNet describes “blebs” in the cells of the brain caused by t-lymphocytes.  What causes them?  Genes?  something else?  Thank you to Dr. Anderson for joining in this podcast to explain.

https://www.ncbi.nlm.nih.gov/pubmed/31801954

https://www.ncbi.nlm.nih.gov/pubmed/31591744

 

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Understanding the brains of people with autism with Daniel Geschwind, MD, PhD

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This week’s ASF podcast is a special treat – Dr. Daniel Geschwind from UCLA provides an understanding of the brains of people with autism, focusing on those with a mutation in chromosome 15.  He goes over how they are similar and different (teaser: they are more similar) and answers questions from families about how this research is important for helping improve the lives of people across the spectrum.

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The 2018 Year in Review: A spectrum within a spectrum

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There were a number of exciting advances in scientific understanding autism in 2018.  These include things that we know to be true, and know to be not true.  Researchers made progress in identifying subgroups of ASD, defining biological markers, and developing  interventions. There were also research that demonstrates that while autism is a spectrum itself, it is also part of a bigger spectrum of neurodevelopmental disorders from anxiety to ADHD to OCD.  Therefore, the approaches to these other conditions may be applicable to ASD. In addition, there may be more similarities than differences in the biological features of these conditions.

This is just a sampling of the exciting research presented on this year’s Year in Review.  You can also read the full summary, complete with references, HERE.

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Another groundbreaking study thanks to brain tissue

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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

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The 2017 ASF Science Year-End Roundup

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In 40 minutes, ASF summarizes the highlights in autism research from before diagnosis through adulthood.   It includes new intervention studies, ways to better diagnose ASD, to understand symptoms, females, sexuality, employment, neurobiology, genetics, and gene x environment interactions.   The major themes are the “H” word, or heterogeneity in symptoms across the spectrum, ways to make the broad spectrum smaller, and how big data approaches are helping make this happen.  Thank you to families who participated in research and tireless autism researchers for lending their skills to answer the tough questions.  And of course, thank you all for listening to these podcasts all year long.  The transcript with all the references used will be posted on the ASF blog in the upcoming days.

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Gamma waves and autism brains

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Gamma waves are brainwave activity at a certain speed and have been linked to consciousness and seem to help coordinate activity in different parts of the brain.  They have also been associated with processing of information, including sensory information.  This week, researchers at Oxford University led by Dr. David Menassa explore gamma waves in the brains of autistic adults who perform better on a visual processing task than those without a diagnosis.  Gamma waves are controlled by the coordinated activity of neurons in the brain, which are regulated by inhibitory interneurons which make sure excitatory neurons aren’t taking over.  In a study using brain tissue of people with autism, it was found by another study at Oxford that there are fewer of these inhibitory interneurons to control this activity.  Dr. David Menassa provides his own interpretation of the data on this week’s podcast.

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Brain tissue: what has it done for autism lately?

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In order to ensure that researchers have enough brain tissue to understand autism spectrum disorders, the education and outreach campaign is being expanded past families to doctors and professionals that have access to tissue.  One of these groups is neuropathologists.  At their annual meeting this past week in Los Angeles, and entire afternoon was spent dedicated to autism and the features of autism in the brain.  A summary of the presentations is included in this podcast. Speakers emphasized that the way the brain works in childhood is not the same way it works in adulthood, and a study out of UCSD showed that the genes that are affected in children with autism are different than those in adults with autism.  The mechanisms of genes controlling the developing brain vs. those which affect ongoing maintenance are different.  This calls to make sure scientists understand all ages of people with autism, because as the brain changes, so do the needs of people with ASD.

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Webinar: Investigating gene x environment interactions in “single gene” autisms

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On May 4th, Dr. Janine LaSalle from UC Davis and (the soon to be Dr.) Keith Dunaway presented on recent research investigating the role of environmental factors in individuals with Dup15 Syndrome.  Individuals with a mutation on chromosome 15 are often diagnosed with autism and previously it had been assumed that these individuals were destined to have a diagnosis due to their genetics.  Dr. LaSalle shows that many of the genes in a critical region of chromosome 15 are tied to turning genes on and off via a process called methylation.  Environmental chemicals or other exposures may also work on these genes to turn on or off gene expression epigenetically.  The first half of the webinar reviews crucial ideas in gene x environment interactions and epigenetics, the second half describes experiments using brain tissue of those with Dup15 Syndrome and autism, as well as cell lines, to understand the role of PCBs in gene expression.