Scientists discover genetic basis and molecular mechanisms of new neurodevelopmental syndrome
Scientists at the University of North Carolina at Chapel Hill School of Medicine and colleagues have demonstrated that variants in the SPTBN1 gene can alter neuronal architecture, dramatically affecting their function and leading to a rare, newly defined neurodevelopmental syndrome in children.
Damaris Lorenzo, PhD, assistant professor in the UNC Department of Cell Biology and member of the UNC Neuroscience Center at the UNC School of Medicine, led this research, which was published today in the journal
Nature Genetics. Lorenzo, who is also a member of the UNC Intellectual and Developmental Disabilities Research Center (IDDRC) at the UNC School of Medicine, is the senior author.
Scientists find genetic cause, underlying mechanisms of new neurodevelopmental syndrome
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Key Brain Molecule May Play Role in Many Brain Disorders
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IMAGE: Right, miRNA29-deficient mice showing a marked increase in the important enzyme DNMT3A (bright light blue). view more
Credit: Deshmukh Lab, UNC School of Medicine
CHAPEL HILL, NC - A team led by scientists at the UNC School of Medicine identified a molecule called microRNA-29 as a powerful controller of brain maturation in mammals. Deleting microRNA-29 in mice caused problems very similar to those seen in autism, epilepsy, and other neurodevelopmental conditions.
The results, published in
Cell Reports, illuminate an important process in the normal maturation of the brain and point to the possibility that disrupting this process could contribute to multiple human brain diseases.