Chromosome 15-apallooza

One of areas of genetic interest of autism is a region of chromosome 15.  Only about 3% of people with autism have the mutation, but 80% of those with the mutation have autism.  It is so important that people with duplications of this area have formed their own advocacy group called the Dup15 Alliance.  I was honored to attend their family an scientific meeting and give a summary of what scientists have learned about autism through studying this chromosome, how kids with this mutation and autism are similar and different from those with autism but not the mutation, how the families are managing life threatening seizures, what the gene does, what the brains look like, and how mutations of this chromosome do in fact interact with the environment.  Thank you to the scientists who study this area and the very brave, selfless and amazing parents who I talked to.

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

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.