John Schell tells the story of a little girl that died over a decade ago from an unknown metabolic disease. Confounded, her doctors published her case in a scientific paper hoping that the mystery would eventually be solved. Schell came upon this paper serendipitously soon after making a big discovery: He and his colleagues, using yeast genetics, found a new gene involved in the cellular breakdown of nutrients, the mitochondrial pyruvate carrier (MPC). The MPC is responsible for transporting pyruvate (a nutrient) from the cytoplasm into the mitochondria, so that it can be broken down to release energy. Schell predicted that a defective MPC was the cause of the little girl’s disease, so he asked the doctors for a sample of her skin cells to sequence her MPC gene. He discovered that she indeed had a mutation in her MPC gene. Further analysis showed that the mutation was likely damaging to the protein, supporting his prediction. Looking at other patients with other metabolic-related diseases, Schell also discovered that MPC function is altered in certain cancers, like colon cancer. Increasing the expression of MPC in mice slowed tumor growth over time until the tumors stopped growing altogether, suggesting a potentially new mechanism for cancer treatment.
John Schell is an MD/PhD candidate in Jared Rutter’s lab at the University of Utah. Schell’s research has focused on how cells get energy for growth and the role mitochondria play in this process. He helped discover the identity of the mitochondrial pyruvate carrier, an important gene involved in cellular metabolism that was long overlooked. As a result of this discovery, he is asking how this process might be altered in cancer and other diseases. Whenever possible, Schell seeks out new opportunities in teaching and mentoring, especially with high school and college level students. In the summer of 2015, he attended the Lindau Nobel Laureate meeting in Germany and the IUBMB-SBBq Young Scientist Program in Sao Paulo, Brazil. Both were exceptional opportunities to talk intensively and be exposed to new areas of research being carried out by passionate young scientists. As part of living in the beautiful state of Utah, Schell takes any opportunity he can to get outside and enjoy the outdoors, which includes road biking. He also really enjoys playing with his dog, Gideon, who makes a cameo appearance in Schell’s iBiology talk.