Scientists Discover Biological Mechanisms Caused by Deficits in High-risk Autism Gene

Scientists Discover Biological Mechanisms Caused by Deficits in High-risk Autism Gene

Damaris Lorenzo, PhD, at the UNC School of Medicine, led research to reveal crucial downstream effects of rare genetic variants, an important insight into the underlying biology of autism. CHAPEL HILL, NC – Scientists at the University of North Carolina at Chapel Hill School of Medicine and colleagues have demonstrated that rare variants in the ANK2 gene, consistently found in individuals with autism spectrum disorder (ASD), can alter architecture and organization of neurons, potentially contributing to autism and neurodevelopmental comorbidities. The discovery, published in the journal eLife , was led by Damaris Lorenzo, PhD , an assistant professor in the UNC Department of Cell Biology and Physiology and member of the UNC Neuroscience Center and the UNC Intellectual and Developmental Disabilities Research Center . ANK2 instructs neurons and other cell types how to make ankyrin-B, a protein with multiple functions in the nervous system. ANK2 encodes for various versions (isoforms) of ankyrin-B through a process known as alternatively splicing, whereby portions of the protein are excluded in the final molecules. Mammals, such as mice and humans, express the full-size (giant) ankyrin-B isoform only in neurons; another highly abundant isoform half its size is found in virtually every type of […]

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