Stanford developmental biologist Joanna Wysocka, PhD, has found an intriguing link between a human birth defect syndrome and the ability of cancer cells to spread to new locations in the body. Her results were published in Nature on Feb. 3.
Wysocka has a joint appointment in the chemical and systems biology and the developmental biology departments at Stanford. She is interested in learning how modifications to a DNA structure called chromatin affect development.
The researchers were studying a mutation known to cause a human birth defect syndrome called CHARGE. Children born with CHARGE (about one out of every 10,000) have some combination of defects in their eyes, ears, heart muscle and facial structure. The far-flung nature of the symptoms made physicians suspect that the problem arose early in development, in a special group of cells called the neural crest cells. In terms of development, these cells are rare birds: They migrate long distances throughout the developing embryo, and they can develop into many more types of cells than their predecessors. This is unusual because - with the exception of the egg and sperm - nearly all cells lose this potential during development:
"For someone who works on chromatin, this is fascinating," Wysocka told me. "Here we have migratory cells that can make hundreds of different cell types. And yet next to nothing known about chromatin regulation in this population."
Wysocka knew that the protein mutated in CHARGE syndrome helps keep DNA organized as chromatin within the cell. When they blocked the expression of the protein in frog eggs, they found the tadpoles expressed many of the syndrome's clinical symptoms. What's more, they showed that the protein works with others to control the expression of genes implicated in the metastasis of a variety of human cancers - including the highly aggressive and metastatic small-cell lung cancer.
To learn more about the research, you can read our release.
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