Discoveries of SPTBN1 Variant

Right, βII-spectrin (magenta) forms aggregates throughout neurites of a mouse cortical neuron expressing one of the human SPTBN1 variants. (Lorenzo Lab)

Scientists at the UNC School of Medicine and colleagues have discovered some dramatic effects from a gene variant that could potentially result in a newly defined neurodevelopmental syndrome in children. The research that resulted in this discovery was funded by grants from the National Institutes of Health and the National Ataxia Foundation. Damaris Lorenzo, Ph.D., 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.

The gene SPTBN1 instructs neurons and other cell types how to make βII-spectrin, a protein with multiple functions in the nervous system. Children carrying these variants can suffer from speech and motor delays, as well as intellectual disability as well as other diagnoses.

“Aside from the immediate relevance to affected patients, insights from our work on SPTNB1 syndrome will inform discoveries in other complex disorders with overlapping pathologies,” Lorenzo said. “It is exciting to be part of such important work with a team of dedicated scientists and clinicians.”

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