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What are PCOS and DDT, and what do they have to do with autism?

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Two new studies came out this week that implicates the role of the endocrine system in autism.  The endocrine system which regulates hormones in your body, also has a key role in brain development early on in fetal and child development.   PCOS is a metabolic condition and DDT is a toxic chemical banned years ago, but both are linked to the endocrine system, both are bad for many reasons, and both are linked to autism.  These studies provide evidence that we should #savetheEPA and be aware of medical and environmental factors which do not cause, but contribute to autism.  Also, PCOS is linked to autism in adult women, so ladies – if you show signs of PCOS, please talk to a doctor!

PCOS study:  https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6068102/  

DDT study:  https://ajp.psychiatryonline.org/doi/pdf/10.1176/appi.ajp.2018.17101129

PCOS blog:  https://www.rmanj.com/lifting-the-fog-on-polycystic-ovary-syndrome-pcos/

http://www.panna.org/resources/ddt-story

 

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The sticky subject of cost effectiveness

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In a perfect world, money would not matter.  But in this world, it does, and a dollar spent on one thing in the clinic by families, society and insurance companies means a dollar not spent somewhere else.  Therefore, studies on cost effectiveness need to be conducted to determine how resources may be best used.  In this podcast, Dr. Tracy Yuen of University of Toronto explains two different analyses which looked at 1) universal screening for ASD and 2) use of genomic sequencing to identify novel variants in people with ASD.  Thank you to Dr. Yuen for explaining the process behind this and these intriguing findings.  You’ll have to listen to find out what they are.

 

https://www.ncbi.nlm.nih.gov/pubmed/29651777

 

https://www.ncbi.nlm.nih.gov/pubmed/29644584

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Where the wild new genetic hot spots are

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Three new studies, all with the common element of inclusion of ASF postdoctoral fellowships as authors, appeared this week using whole genome sequencing technologies to look at new areas of the genome.  Not just new genes, but totally unexplored ares of DNA that were only possible to examine through these newer technologies.  They are called regulatory non-coding regions, because they regulate genes known to be associated with autism – but don’t code for any proteins.  Interestingly enough, they are carried by the unaffected father.  As one of the authors on the studies and guest on this podcast, William Brandler explains, they regulate genes, they don’t cause autism, otherwise the non-affected fathers would not be non-affected.  Another ASF fellow, Donna Werling, published an analysis which called for careful consideration of the statistics around these findings.  After all, this is a relatively unexplored territory.

 

https://www.ncbi.nlm.nih.gov/pubmed/29674594

https://www.ncbi.nlm.nih.gov/pubmed/29703944

https://www.ncbi.nlm.nih.gov/pubmed/29700473

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Post zygotic mutations in autism: what you need to know

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Yes, another type of mutation in autism was revealed this week.  Those that are evident after the sperm and egg meet to form the zygote but still very early, during embryonic development.  Because it occurs after the original zygote is formed, the mutation is not found in every cell or every region of the body, called post-zygotic.  A collaboration of three major genetic consortia studied and collaborated on these types of mutations and revealed that they consist of about 7.5% of all de novo mutations in people with autism.  They affect autism risk genes and selectively target brain regions associated with autism.  Learn more about what this means for family planning and cognitive ability in people with autism.

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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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A new understanding of autism genetics

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Lots of people tend to think of the genetics of disorders or disease about one mutation or genetic variation that is inherited from the mother or the father, that causes a trait directly.  Unfortunately, the genetics of autism isn’t that simple or scientists would have found “the gene” by now.  In fact, there are different types of genetic influences in autism.  A new study in Nature Genetics led by Elise Robinson shows how common variation influences autism risk, as well as intellectual function in autism, compared to de novo mutations.  There is a short primer at the beginning of the podcast about old-school genetic thinking and why it doesn’t apply to ASD.  Below is the picture mentioned.

 

2017-05-11_10-53-19_101

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The IMFAR wrap-up titled “Heterogeneity in autism: we aren’t going to take it anymore”

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This week’s International Meeting for Autism Research was filled with important presentations on the multiple causes of autism, interventions, diagnosis, neurobiology, services, family and self-advocate perspectives, the list goes on and on.  There is a great recap on www.spectrumnews.org.  An underlying theme ran through the presentations.  That is, that the previous “well, we don’t see differences because there is lots of heterogeneity in autism” explanation isn’t cutting it anymore.  We know people with autism are different, and parents, self-advocates and researchers are starting to deal with it by stratifying groups by their genetic backgrounds.  While not a complete solution to this challenge, research at IMFAR shows that identifying different subgroups based on genetics is helping to explain symptoms.

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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.

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Who could have thought the genetics of autism was so complicated?

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On Monday, the much anticipated MSSNG study which analyzed the entire DNA sequence of over 5000 people with autism was published.  The press release can be found here.  In it, the researchers found even more genes of interest to autism.  Also, those with more of a specific type of mutation, copy number variations, had worse autism symptoms.  But of course, the story gets more complicated than just more mutations – worse behavior.  An analysis from a different group of individuals reinforced the role of copy number variations in symptoms, but when they matched the groups according to IQ, the autism symptom profiles were different.  This shows that adaptive behavior  and IQ are important to consider when considering how genetics influence autism symptoms.  Finally, another study shows how important measuring genetics is to understanding environmental factors associated with autism.  Michela Traglia reports that increases in PBDEs in moms of kids affected with autism can be explained by mutations in the gene that breaks down these chemicals.  It’s important to study genetics of autism, but also crucial to know the genetics of the entire family as well.

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To see differences in the brains of males and females with autism, you have to look at the brains of males and females with autism

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Last month, UC Davis researcher Cyndi Schumann used resources for the Autism BrainNet to look at what causes differences in the rates of diagnosis between males and females.  Consistent with other studies on this topic, males and females don’t show differences in the rates of autism genes, but rather in the way that the brain controls other genes that code for things like neuroinflammation and development.  Clearly more studies are necessary but it is consistent with the Female Protective Effect in autism.  The full text can be found here:  https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294827/

And also, there was a study on genital herpes and autism that CNN got totally wrong.