UGA geneticist studying neural tube defects for clues to common birth defects

An assistant professor of genetics at the University of Georgia was recently awarded a grant from the National Institutes of Health to study neural tube defects in mice. The goal of Jian-Fu Chen’s project is to understand why neural tube defects, the second most common birth defect in humans, occur.

The neural tube becomes the brain and spinal cord in a developing embryo. The defect occurs when a neural plate folds into a tube during an embryo’s development, explained Chen, who works in the Franklin College of Arts and Sciences’ genetics department.

When the tube doesn’t fully close, it results in defects like spina bifida, which can result in severe disabilities like paralysis of the legs and incontinence, and anencephaly, which results in missing parts of a baby’s head and brain, according to the Centers for Disease Control and Prevention. Frequently, neural tube defects result in death.

Inspired in part by a previous study he and colleagues published, Chen plans to analyze microRNA’s role in neural tube closure. MicroRNA, or miRNA, is a class of non-coding RNAs that regulate gene expression. The functions of miRNAs in early embryo development are not well understood.

“This is an area nobody has a lot of information on,” he said. “MicroRNA in mammalian embryo development is a relatively new area still.”

His recent study, “MiR-302/367 regulate neural progenitor proliferation, differentiation timing, and survival in neurorulation,” showed that specific miRNAs played a critical role in embryo development in mice and pointed to a relationship between miRNAs and neural tube closure problems. Now, Chen plans to use this mouse model to further explore that relationship, focusing on how the deletion of that miRNA disrupts the neural tube closure process.

“I was always fascinated by the beautiful mechanisms in the developmental process-how an embryo is developed from a single cell,” Chen said of his interest in developmental biology. He hopes his research can help demystify the study of birth defects.

Chen’s partner in this project is Silu Yang, a postdoctoral fellow who leads this study in his laboratory.

The research is being supported by the NIH’s National Institute of Neurological Disorders and Stroke under award number R01NS096176.


Writer: Leigh Beeson

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