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Ribbit…Ribbit… frogs are the new mouse of ASD research

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You’ve heard a lot about CRISPR technology to manipulate gene expression. But what have scientists actually learned? Well, the cells in which DNA is manipulated could come from different animal models, including frogs and mice. These model systems are used to track brain development, sex differences, and the downstream effects of convergence of genetic manipulations of autism relevant genes on brain cells. They can be used, as one study demonstrated, to examine protective or resilience factors in the brain. This week we talk to Helen Willsey, PhD, at UCSF to hear about her research about manipulating genes in frog eggs and what it says about the female protective effect.

https://pubmed.ncbi.nlm.nih.gov/33497602/

https://pubmed.ncbi.nlm.nih.gov/33243861/

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Sex differences: It’s not about the diagnostic measurements.

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A fresh take on an existing topic: why there are more boys diagnosed with ASD than girls. Even from a few months old, girls are different than boys, and they show subtle differences in toddlerhood. But at the time of diagnosis, they score the same on standardized instruments of ASD used to categorize someone as having ASD or not. This means it isn’t about the measures. It could be cultural factors, it could be a protective effect, but there needs to be a better understanding of these differences across the lifespan to help everyone with ASD, especially females.

https://www.cell.com/current-biology/retrieve/pii/S096098222030419X?_returnURL=https%3A%2F%2Flinkinghub.elsevier.com%2Fretrieve%2Fpii%2FS096098222030419X%3Fshowall%3Dtrue

https://doi.org/10.1007/s10803-020-04526-z

https://doi.org/10.1111/jcpp.13242

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Autism treatments are not the same, even in animals

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This week the media over-hyped a publication on a potential link between Alzheimer’s and Autism Spectrum Disorder. However, this new study did identify a new treatment target for some forms of ASD. Not all forms, but some forms. Not all forms of ASD have the same underlying neurobiology and while one treatment may help a larger group of people with ASD, they also may not. This week’s podcast explores potential treatment targets in 3 different animal models of ASD. 

https://www.ncbi.nlm.nih.gov/pubmed/32126198https://www.ncbi.nlm.nih.gov/pubmed/32123378
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Praise for genetic testing in ASD

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Genetic testing for autism spectrum disorders is not just about finding the gene.  So many genes have been found that genetic testing allows families who have a rare genetic disorder to find each other, support one another, raise money for research and train physicians to better help their community.  While genetic testing isn’t always pushed, it should be.  Autism Science Foundation has organized an initiative called AGENDA (www.alliancegenda.org) to bring together rare diseases associated with ASD.  This is important in moving from discovery to development faster.

https://www.ncbi.nlm.nih.gov/pubmed/31542846

https://www.ncbi.nlm.nih.gov/pubmed/31548702

 

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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.