11/01/2013 Peter Durantine

Searching for Answers in an Unknown Mutated Protein

Destiny seldom provides a clear path, but for Franklin & Marshall College seniors Maggie Provencher and Jeff Smith, medicine was a field they both knew was waiting for them as they started their first year at F&M.

It wasn't just because her father and his mother are doctors. These two F&M rowing team members learned during Family Weekend 2010 that Provencher's father and Smith's mother had attended the University of Medicine and Dentistry of New Jersey together.

As neuroscience majors, Provencher and Smith, along with sophomore Carolina Giraldo, a fellow rower who is considering chemistry as a major, are working with Associate Professor of Biology Robert Jinks. They are trying to discover how a certain, mutated protein, never before studied, causes kidney failure, intellectual disability, blindness, small heads and other severe symptoms of a genetic disorder called Yoder Dystonia. 

  • Mutated Gene Research Project Franklin & Marshall College sophomore Carolina Giraldo and seniors Jeff Smith and Maggie Provencher work with Associate Professor of Biology Robert Jinks, trying to discover how a mutated protein, never before studied, causes kidney failure, intellectual disability, blindness, small heads and other severe symptoms of a genetic disorder called Yoder Dystonia. (Photo by Melissa Hess) 

It takes both parents carrying the mutated gene for a child to have the disorder. It is particularly prevalent among Amish children, and those with Yoder Dystonia typically don't survive beyond their teenage years, Jinks said.

The students' research involves observing patients at the Clinic for Special Children and using cell samples from some of them, which the students grow in the lab for experiments to learn how the mutated protein interacts with other proteins.

"We get to look at the symptoms of the disorder and then we get to look at the mechanics of the protein cell and figure out its function," said Provencher. "We are trying to discover the function of one specific protein and its interaction with other proteins and trying to relate it back to the disorder."

Located in the heart of Amish country in Strasburg, Pa., the Clinic for Special Children conducts research and cares for patients afflicted with a number of disorders, including Yoder Dystonia. Through funding from the Howard Hughes Medical Institute, the nonprofit Center for Research on Women and Newborn Health (CROWN) and the patient advocacy service ConnectCare3, Jinks' lab and the clinic provide pre-med students with bedside and research experience.

"We're seeing how the protein affects the body and then going to the bedside and seeing how it affects the patient," Smith said.

Giraldo said their research has involved examining mutated and non-mutated genes and how the mutated gene affects brain and kidney cells. "We are trying to figure out how to cure them," she said.

Giraldo is a Howard Hughes Medical Institute scholar. Provencher is a recipient of the College's John Marshall Scholarship, which she received in her freshman year. Smith volunteered for the research experience.

Jinks, said the students are continuing research that began in the 2012-13 academic year. The research will continue until they find an answer. He said little is known about the mutated protein he and his students are researching because it has never been scientifically studied. "Why do the changes in this protein cause these symptoms?" Jinks asked. "You can't find anything about this protein in any of the science literature."

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