Scientists discover biological mechanisms caused by deficits in high-risk autism gene

Scientists discover biological mechanisms caused by deficits in high-risk autism gene

image: Actin (yellow) and tubulin (red) distribution in young mouse cortical neurons deficient in giant ankyrin-B 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 cell and organ. Multiple genetic studies have consistently identified rare variants in […]

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