Accidental Discovery Advances Understanding of Spinal Cord Birth Defects

A report published in the December 6 issue of the journal Nature Cell Biology revealed a link between certain genetic mutations and early development of spinal cord disorders in mice. Scientists from the Johns Hopkins University School of Medicine and the University of California-Berkeley made the accidental discovery while searching for genes that guide the development and routing of the billions of neurons that make up the nervous systems of mice.

The study initially involved creating random mutations in mouse genes and then studying the offspring for nervous system defects. While examining thousands of mouse embryos as part of the study, graduate student Janna Merte noticed one of them had a spinal cord that had failed to develop from a flat sheet of cells into a tube.

Healthy spinal cord cells in mouse embryos develop at first in a flat layer of cells which then rolls up into a tube to begin forming the spinal cord. In spina bifida and other spinal cord disorders, the flat layer of cells never rolls up into a tube.

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www.brainandspinalcord.org/blog/2010/01/04/accidental-discovery-advances-understanding-of-spinal-cord-birth-defects/