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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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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.