Are So-Called De Novo Mutations Causing Autism?

Michael Schatz: So in autism, I collaborate with some folks at Cold Spring Harbor Lab where we’re participating in a project that’s been sponsored by the Simons Foundation.  And the idea there is over the last several decades different hospitals around the U.S. have been identifying families where one kid will have autism, their sibling does not, and have been collecting from those people blood samples of the autistic child, their sibling, and also their parents.

So then the questions tend to be well, what is it about these autistic kids in terms of their genome that are special or changed or different, relative to their parents, relative to their siblings, that either predisposed or perhaps even caused the disorder.  There’s been a lot of interest.  There’s been a lot of study about this.  There’s a lot of uncertainty about this.  And really it’s been the growth of DNA sequencing technologies that has made it possible to finally drill down into the genome to see what exactly is special about kids with autism.

So through some early studies, there was a lot of evidence that so-called de novo mutations were at least partially responsible for autism.  So a de novo mutation is most of your genome is a combination of your parents’ genome, so it’s half your mom plus half your dad put together forms you.  But a very, very small number of changes are so-called de novo, meaning that there’ll be spontaneous changes in the genome.  There had been some earlier work through Mike Wigler’s Labs and others that saw that there were large-scale of what’s called copy number changes that were associated with autism, where segments of the genome would either be duplicated or segments of the genome would be deleted and lost in kids with autism.

Now through improved sequencing technology we can drill down and we can look and see well, what are the specific bases that are being deleted or amplified.  What are the specific mutations?  It just gives us incredible power to be able to identify these changes.  We’re still relatively early in the project.  So far we’ve sequenced about 300 such families.  The full project will be about 3,000 families, and the hope there is to be able to identify the patterns that lead to the disease.


Image Credit: Shutterstock

Michael Schatz on autism and genetics.

Related Articles
Playlists
Keep reading Show less

Five foods that increase your psychological well-being

These five main food groups are important for your brain's health and likely to boost the production of feel-good chemicals.

Mind & Brain

We all know eating “healthy” food is good for our physical health and can decrease our risk of developing diabetes, cancer, obesity and heart disease. What is not as well known is that eating healthy food is also good for our mental health and can decrease our risk of depression and anxiety.

Keep reading Show less

For the 99%, the lines are getting blurry

Infographics show the classes and anxieties in the supposedly classless U.S. economy.

What is the middle class now, anyway? (JEWEL SAMAD/AFP/Getty Images)
Politics & Current Affairs

For those of us who follow politics, we’re used to commentators referring to the President’s low approval rating as a surprise given the U.S.'s “booming” economy. This seeming disconnect, however, should really prompt us to reconsider the measurements by which we assess the health of an economy. With a robust U.S. stock market and GDP and low unemployment figures, it’s easy to see why some think all is well. But looking at real U.S. wages, which have remained stagnant—and have, thus, in effect gone down given rising costs from inflation—a very different picture emerges. For the 1%, the economy is booming. For the rest of us, it’s hard to even know where we stand. A recent study by Porch (a home-improvement company) of blue-collar vs. white-collar workers shows how traditional categories are becoming less distinct—the study references "new-collar" workers, who require technical certifications but not college degrees. And a set of recent infographics from CreditLoan capturing the thoughts of America’s middle class as defined by the Pew Research Center shows how confused we are.

Keep reading Show less