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Autism Gene Causes Impact to Brain's Growth Signaling Network Press "Enter" to skip to content

Autism Gene Causes Impact to Brain’s Growth Signaling Network

A new study by the Scripps Research Florida found that the Damage to the Autism gene Dyrk1a, sets off an overflow of problems in developing mouse brains. This resulting in abnormal growth-factor signaling, undergrowth of neurons, smaller-than-average brain size, and, eventually, autism-like behaviors. Their study appears Thursday in the journal Biological Psychiatry.

The study from neuroscientist Damon Page, PhD, explains a new mechanism underlying the brain undergrowth seen in individuals with Dyrk1a mutations. The group of researchers used those insights to target the affected pathway with an existing medicine, a growth hormone. It restored normal brain growth in the Dyrk1a mutant mice

He said that currently there are no targeted treatments available for individuals with Autism spectrum disorders caused by DYRK1A mutations. This represents a first step in evaluating a potential treatment that could be used in the clinic. In order to track the effects of the missing Dyrk1a genes, Jenna Levy, the paper’s first author and a graduate student in Page’s lab, engineered mice to have one or two broken copies of Dyrk1a in their developing brain tissue. The brains of both sets of mice developed abnormally, she found, displaying decreased brain size and number of neurons, as well as reduced number of other brain cells.

Jenna Levy, the paper’s first author and a graduate student said that the scientists conducted “unbiased” proteomic studies, to see if the mutant mice had abnormally high or low levels of other unknown proteins that might impact brain development. They used a method called “high-resolution tandem mass spectrometry coupled to liquid chromatography,”. In the mice researchers found they reduced levels of 56 cellular proteins, and increased levels of 33. Many of those were known Autism risk genes, some implicated in sending growth signals,

The author also added that the specific signaling cascades we found altered in Dyrk1a mutants are implicated in multiple causal mechanisms of autism.

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