Researchers at the University of Wisconsin-Madison took a new step forward in the fight against Friedreich's ataxia. They used a molecule designed specifically to overcome an obstacle caused by a genetic defect. In vitro and on animal models, the procedure has given excellent results. This ignites the hope of finding an effective treatment against this rare and fatal genetic disease.
Friedreich's ataxia, like other 40 genetic diseases, is caused by repeated strings of DNA. This prevents the proper formation of proteins, due to cellular blocks that jam the mechanism. To solve the problem, the researchers have developed a kind of molecular prosthesis to restart the cellular mechanism. A component of the prosthesis identifies the repetition, the second helps the cell to bypass it.
For the time being, the researchers have tested the procedure in two types of tests.
In the first test, the scientists used the cell lines of 20 patients with Friedreich's ataxia. Applied in vitro, the molecular prosthesis has helped cells restore the correct gene expression. In this way they also resumed producing the missing protein.
In the second test, they used the prosthesis on guinea pigs. Also in this case, the procedure re-established the mechanism of protein production.
Despite the excellent results, we will have to wait for many more years before we get to human tests. The same team had indeed registered a first success in 2004, but ended with nothing done. The molecule used as a prosthesis was in fact attracted by other areas of DNA similar to the one in question. With the new study, researchers seem to have solved the problem of 2004, but further tests will still be needed.