Mark Zylka, PhD, and lab is the first to show how one gene mutation disables a molecular switch and causes autism.
Published in the journal Cell, their research shows that an enzyme called UBE3A can be switched off when a phosphate molecule is tacked onto UBE3A. In neurons and during normal brain development, this switch can be turned off and on, leading to tight regulation of UBE3A. But Zylka lab found that an autism-linked mutation destroys this regulatory switch. Destruction of the switch creates an enzyme that cannot be turned off. As a result, UBE3A becomes hyperactive and drives abnormal brain development and autism.
“Genetic studies are showing that there will be about 1,000 genes linked to autism. This means you could mutate any one of them and get the disorder. We found how one of these mutations works,” said Zylka.
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