For people that suffer from rare mitochondrial diseases, there aren’t many places to turn. The United Mitochondrial Disease Foundation (UMDF) is one organization providing resources that allow them to find community — and also connect with scientists, such as those who study proteins and cellular processes that relate to their disease in the lab of biochemistry professor and Morgridge Institute for Research investigator Dave Pagliarini.
It’s easy for scientists toiling in a laboratory to forget the impact their work might have on those outside the important science they are performing. However, events hosted by UMDF have enabled many members of the Pagliarini Lab to connect with those who may directly benefit from the findings of their research: patients with mitochondrial disease. Recently, a group of graduate students and postdocs attended the UMDF’s Energy for Life Walkathon – Southern Wisconsin in Waukesha, Wisc. to participate and interact with patients and have intimate conversations about their research.
Pagliarini Lab members left to right: Cellular and molecular biology
graduate student Andrew Sung, Integrated Program in Biochemistry
(IPiB) graduate students Eddie Rashan and Abigail Bartlett, and
postdoc Rachel Guerra. Image courtesy of Energy for Life
One line of research in the Pagliarini Lab is focused on coenzyme Q, an essential component of metabolism in mitochondria whose deficiency is associated with multiple human diseases. The group investigates several proteins essential for the biosynthesis of coenzyme Q in order to piece together its complete pathway to devise interventions that can treat disease.
“It was compelling to meet the patients and their families and hear their stories of dealing with mitochondrial disease,” says lab member and Integrated Program in Biochemistry (IPiB) student Eddie Rashan. “Despite their struggles, this community has remained so resilient and dedicated to finding viable treatments and cures. Many participants reflected on the importance of our research efforts and what it meant to them, which was very motivating and inspiring.”
In Waukesha, the students participated in the walk as part of a team and also made themselves available to the patients and their families to ask questions about their research. While the work in the Pagliarini Lab is more focused on the biosynthesis pathway of coenzyme Q rather than direct treatments of the disease, it is the understanding of the pathway that would allow for therapies to be devised. So, many patients ask the students about their research on specific genetic mutations and issues their cells have in making the enzyme.
“We had met some of the patients and families from southern Wisconsin before, so it was fantastic to see familiar faces at the event,” says Abigail Bartlett, another member of the lab and IPiB student. “People want to know how our research really affects their specific mutation, which is often rare or understudied. Or they want to know what got us personally interested in this work. It can be sad at times because the diseases have detrimental effects that last a lifetime but they are all very hopeful.”
The students say that meeting the patients and families gives them a new perspective on their work and why it’s important and meaningful.
Students interacting with patients at the Energy for
Life walkathon organized by the United
Mitochondrial Disease Foundation. Photo courtesy
“They help us believe that what we do in the lab can influence their quality of life in the future,” Bartlett says. “It doesn’t necessarily change the way we perform research day-to-day, which can feel very removed from these issues sometimes, but the change in mindset brings that broader meaning into the work. It keeps us connected to the people who can be impacted by our research.”
The lab and UMDF have had an ongoing relationship for a number of years. Members of the group have come to the lab to visit and listen to students present about their research.
“The UMDF is a gem within the rare disease community,” Pagliarini says. “Our decade-long interactions with this organization have been transformative and have motivated us to begin thinking critically about how to translate our basic understanding of mitochondrial pathways into new therapeutic opportunities.”
Rachel Guerra, a postdoc in the lab, recently received one of UMDF’s Accelerator Program prizes for postdocs to support her work, which focuses on two molecules called CoQ7 and CoQ9 that work together to produce coenzyme Q. Understanding how these work in the synthesis of the enzyme would lead to insights into how to treat forms of mitochondrial disease related to a deficiency.
“In D.C. giving a presentation for the fellowship, I met the patient community for the first time,” Guerra says. “There is little public knowledge of these diseases so they have to fight to get their voices heard and are extremely passionate. I then got to reconnect with some of them on the walk, and the experience drove home why we do what we do.”
Read more about research from the Pagliarini Lab in the UW–Madison Department of Biochemistry: