While a typo in a letter or email is a problem it’s not a big one, usually. But when that typo is in genetic code, itâ€™s a very different matter. Mayo researchers in the lab of L. James Maher, III, Ph.D., a Mayo Clinic biochemist, and their collaborators, are examining a genetic typo that can lead to tumors in specialized nerve cells, or paragangliomas, and in the cells of the gastrointestinal tract, or gastrointestinal stromal tumors (GIST). This typo can run in families, causing an inherited cancer risk.
Tumors related to the typo can be cancerous or benign, and they are generally diagnosed in adults. While rare, these tumors can be life-threatening and difficult to treat.
“The genetic typos shared by these paragangliomas and GISTs are particularly puzzling because they disable mitochondria, tiny organelles considered to be the ‘engines’ of the cell,” explains Dr. Maher, who became fascinated with malignant paragangliomas because of his personal 45-year experience managing this cancer. “Understanding these tumors would be improved if they could be found in other animals.”
In the lab, the researchers are exploring ways to recreate the genetic typo in a nonhuman, fast-growing model. To do this, they develop mice with the typos present in different mouse cells at different times and places. But to date, they haven’t been able to recreate the tumors. So they began a new experiment and got a surprise, which they recently published in The FASEB Journal, the journal of the Federation of American Societies for Experimental Biology.
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