Medical Bulletin Winter 2009
Minnesota Medical Foundation
University of Minnesota
Read about Dr. Michael Kyba - Friends of FSH Research's prior grant recipient
Click above link to read entire article regarding University of Minnesota's Muscular Dystrophy works.
Searching for the best treatment target
To help steer future FSHD treatmentand cure-focused research down the right path, Kyba and his team are studying how the gene variation that causes FSHD, the third most common type of muscular dystrophy, causes muscle loss.
Scientists know that FSHD is caused by a missing piece of DNA that is part of a repetitive sequence. This area of DNA normally has about 100 copies of this particular sequence, Kyba says, but people who have FSHD have 10 or fewer copies.
“So there’s something in this repeat sequence that causes the disease when you have only 10 repeats but doesn’t cause the disease when you have more than 10 repeats,” he says. “Genetically, it’s a very mysterious disease.”
Kyba wants to know why this happens. By removing cells from people who have muscular dystrophy and reprogramming them to become induced pluripotent stem (iPS) cells, the team expects to gain insight into the genetic basis for this form of muscular dystrophy and hopes to find ways to genetically repair that diseasecausing defect.
“The protein encoded by this repetitive sequence is probably the best target for therapeutic intervention in FSHD, but we really haven’t proven it yet,” Kyba says. “We hope to use the iPS cells to show that the protein is expressed in muscle stem cells and validate that idea.”