Although Friedreich’s ataxia is the most common type of ataxia, an effective treatment remains elusive. But thanks to the efforts of Michael Koob, Ph.D., and his laboratory team, the path to a cure could be getting shorter.
Aided by a one-year, $75,000 seed grant from the Bob Allison Ataxia Research Center (BAARC) in 2008, Koob and his colleague Young Yoon, Ph.D., are working to develop a novel gene therapy for Friedreich’s ataxia.
This form of ataxia is caused by a lack of a protein called frataxin, which works in the cell’s “power house,” the mitochondrion. In devising an effective gene therapy to treat the disease, the Koob lab has engineered new ways to get this missing protein into ataxia-stricken cells.
The group began this diligent work with yeast cells. First, they created a yeast gene to compensate for the lack of the frataxin in a diseased cell. Then they inserted that gene into the mitochondria of yeast cells in the lab.
It’s a process that had never been successfully achieved anywhere in the world. By injecting the yeast’s frataxin gene into the cell’s mitochondrion instead of its nucleus, Koob and his team found that the gene could be more easily replicated. From there, they found that they could transfer those mitochondria from one cell to other cells that didn’t have the frataxin protein. As a result, those cells were rescued.
“Basically, we’ve shown that this type of engineering can cure Friedreich’s ataxia in yeast,” says Koob, an associate professor in the University of Minnesota’s Institute of Human Genetics. “Now we need to take the next step toward making this work beyond the lab.”
Long term, Koob’s work could help pave the way for a successful gene therapy for people with ataxia and other neurodegenerative diseases.
The promise of this research has been recognized by several organizations: This year, Koob’s lab has received more than $1 million collectively from the Friedreich Ataxia Research Association, the Muscular Dystrophy Association, the State of Minnesota, and the Minnesota Partnership for Biotechnology and Medical Genomics to design and test the gene therapy in mouse models.
“The BAARC grant allowed us to get the data we needed to get additional funding,” Koob says. ” The payback has been tenfold.”