This consortium will draw on previous studies at USA funded with the R21 grant, a special category at the NIH for “high risk, high reward” proposals. These proposals are deemed to be of exceptional value on the entire field of study.
Dr. Mikhail Alexeyev, assistant professor in the department of cell biology and neuroscience at USA and principal investigator of the project, said these studies, if successful, will put USA on both national and international maps as an authority in mitochondrial research.
“The technology and experimental approaches developed in the course of these studies will enhance other mitochondrial research projects at USA,” he said. “It will also increase awareness of mitochondrial diseases, which often go undiagnosed or misdiagnosed due to the complexity of the symptoms.”
Mitochondria are cellular organelles that are often referred to as the “powerhouse” of the cell because they produce the bulk of ATP, which is an energy currency of the cell. Mutations in the mitochondrial DNA often result in mitochondrial diseases.
“The problem with the current research models for mitochondrial diseases is that they failed to faithfully recapitulate human disease,” Dr. Alexeyev said. “The models we are working with can allow us to observe outcomes faster and more effectively.”
According to Dr. Alexeyev, there are more than 100 known disease-associated mutations in mitochondrial DNA. “Mitochondrial diseases are hereditary diseases, caused by changes in the genetic information,” Dr. Alexeyev said. “To model the human disease, we need to change the genetic information in the lab model’s mitochondrial DNA.”
Studies indicate that mitochondrial diseases are some of the most common genetic disorders. “They are progressive and incurable, and some are lethal.” Dr. Alexeyev said. “Availability of reliable models will facilitate and accelerate finding effective treatments and ultimately a cure.”
