A Wayne State University School of Medicine student is using a fellowship from the American Heart Association to study a protein complex that could lead to better treatments for Friedreich's Ataxia, an inherited metabolic disorder that causes nervous system damage and movement problems.
Stephen Dzul is an M.D./Ph.D. student in his fourth year of the program. He has completed two years of medical school and is in his second year of graduate school.
"I was obviously thrilled. I'm very grateful for all the help and support I've received from a huge number of people, especially my lab mates, my advisor Timothy Stemmler, Ph.D., and my program director and WSU Graduate School Dean Ambika Mathur, Ph.D.," Dzul said.
His project mentor is Dr. Stemmler, a professor and director of research for the College of Pharmacy and Health Sciences' Department of Pharmaceutical Sciences. The Stemmler lab studies the biochemistry of Friedreich's Ataxia, an inherited metabolic disorder caused by insufficient levels of a single protein called frataxin. "We study this protein and other proteins that interact with it. My project, which is the focus of the AHA fellowship, focuses on another protein - Isu - which binds to frataxin to form a multi-protein complex - ISC," Dzul added.
The disease, named after a German doctor who first described the condition in the 1860s, causes the spinal cord and peripheral nerves to degenerate and thin, according to the National Institute of Neurological Disorders and Stroke. It is caused by a mutation in a gene labeled FXN and usually begins in childhood, typically between the ages of 5 and 15. It leads to impaired muscle coordination that worsens over time, including awkward unsteady movements and impaired sensory functions. It also produces problems in the heart and spine, with heart disease being the most common cause of death for those with the condition, according to the NINDS.
"Friedreich's Ataxia is a devastating disease and no effective treatments currently exist. The underlying cause, however, is relatively simple: insufficient levels of frataxin. I think that by building a better understanding of what frataxin does and how it works, it should be possible to develop some effective treatments which could slow the progression of the disease, and that excites me," Dzul said.
The two-year, $52,000 predoctoral fellowship partially supported by the Friedreich's Ataxia Research Alliance and active now through Dec. 31, 2015, is for the project "Characterizing Isu Scaffolding Protein and ISC Multiprotein Complex Structure and Function In Vitro." He is the principal investigator.
The Detroit resident grew up in Grosse Pointe, Mich.
"Steve is an exceptional young scientist and a member of what is really an outstanding initiative within the medical school, the M.D./Ph.D. program," Dr. Stemmler said. "He came to my lab with an interest in characterizing the molecular aspects of cardio and neurodegenerative disorders related to an inability to regulate metal homeostasis. Steve's project has been ambitious from the start, developing an expression system and characterizing the multiprotein complex that drives mitochondrial Fe-S cluster biosynthesis. Fe-S clusters are important within nearly every biochemical pathway, and there is a growing association of disruption in metal homeostasis in many cardio- and neurodegenerative disorders, so his topic is at the forefront of science."