Helping to Cure Mitochondrial Disease, Thanks to Fruit Flies, NIH and Students

Mitochondrial disease is a devastating condition which can affect nearly every part of the body. Debilitating the mitochondria—tiny operators in almost every cell of the body which turn sugar into energy—the disease can effectively shut down operations from head to toe.

Remarkable similarity in mitochondria throughout the animal kingdom makes the study of potential treatments for the disease surprisingly applicable across species, from insect to human. And in one of the biology laboratories at Adelphi, Assistant Professor Eugenia Villa-Cuesta, Ph.D., assisted by undergraduate and graduate students, is making important advances in finding a cure—important enough that she recently received a $250,000 National Institutes of Health grant to continue the work.

“We have very good preliminary data, and my work is published so there was a lot of potential,” Dr. Villa-Cuesta said of the three-year, quarter-million–dollar grant supporting her research using fruit flies to isolate possible treatments for mitochondrial disease.

Dr. Villa-Cuesta’s work is undertaken in conjunction with a dedicated team of seven undergraduates and one graduate student. That staffing has turned out to be a strength for a number of reasons. The students benefit from a mentored research experience and, of course, Dr. Villa-Cuesta gets a talented team to undertake the research. Also, the fact that Dr. Villa-Cuesta was working with younger students than many research institutions employ made her work an easy fit for the NIH Academic Research Enhancement Award.

“We applied for a grant which is focused on undergraduates and schools that don’t receive a lot of federal money so undergraduates can get firsthand experience in medical study,” she explained.

Dr. Villa-Cuesta’s research—the results of which have already been published in The Journal of Cell Science and Disease Models & Mechanisms and will be included in a forthcoming issue of Journal of Visualized Experiments—is focused on finding a drug therapy to treat failure of the mitochondria, which are responsible for generating about 90 percent of the energy insects and animals use. While fruit flies would seem to be physiologically worlds away from humans, it turns out that, at least at the cellular level, we’re more alike than many might expect.

“You see a fruit fly, [you think it’s] a small insect that shares nothing with us,” Dr. Villa-Cuesta said. “But actually we do share a lot of our genome with the fruit fly. What we can discover quite likely can be applied to vertebrates because it’s been preserved through evolution through all these generations.”

Given that they live only two weeks, it’s easier to see the progress of the condition and the effects of drug therapies in fruit flies than in bigger, longer-living beings. Dr. Villa-Cuesta and her students are monitoring the crawling and flying abilities of fruit flies infected with mitochondrial disease. When a drug is isolated that improves those abilities, the flies are put to a molecular analysis to see how the mitochondrial disability has been improved.

Dr. Villa-Cuesta credits the intelligence and dedication of her students with helping the research move forward, and Adelphi for providing an environment where students and faculty can work so closely together.

“Since Adelphi is a small institution, you get to know students very well and take care of the students and in return they feel at home in your lab and want to do better work,” she said. “In a larger institution, you might not stop to see if the people in your lab are happy. The fact that they’re happy turns into them wanting to do more things. Part of why this study got funded is I have wonderful students generating the data.”

From AU VU magazine, fall 2015 issue