Researchers identify the single epigenetic mutation which causes autism
Last December, researchers identified more than 1,000 gene mutations in individuals with autism, however, it was still unclear as to how these mutations increased the risk for autism. Now, UNC School of Medicine researchers are the first to show how one of these mutations disables a molecular switch in one of these genes and causes autism. The opensource study is published in the journal Cell.
Previous studies 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. However, the current study found that an autism-linked mutation destroys this regulatory switch. The data findings show that 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. The current study used human cell lines, as well as mouse models...
Read more at Health Innovations.
http://health-innovations.org/2015/08/07/researchers-identify-the-single-epigenetic-mutation-which-causes-autism/
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