WIKIMEDIA, HEIKENWAELDER HUGOA rare, untreatable cardiac disorder called Barth syndrome that affects heart and skeletal muscle function is now available for study as an in-vitro chip. Developed from the skin cells of two Barth syndrome patients, the stem cell-based technology could serve as a platform for better understanding the disease and testing new therapeutics to treat it. The work was published yesterday (May 11) in Nature Medicine.
“You don’t really understand the meaning of a single cell’s genetic mutation until you build a huge chunk of organ and see how it functions or doesn’t function,” Kevin Kit Parker of the Wyss Institute at Harvard University, an expert in organs-on-chips technology, told the Harvard Gazette. “In the case of the cells grown out of patients with Barth syndrome, we saw much weaker contractions and irregular tissue assembly. Being able to model the disease from a single cell all the way up to heart tissue, I think that’s a big advance.”
The X-linked disease, which primarily affects boys, is the result of a mutation in the Tafazzin gene (TAZ). Parker and his colleagues dedifferentiated skin cells from Barth syndrome patients into induced pluripotent stem ...
