A team from the University of Cardiff has discovered a potential treatment for distal Nonaka myopathy. The genetic disease causes progressive loss of strength in the legs and arms, forcing you to spend your life in a wheelchair.

The cause lies in a mutation of the GNE gene and for the moment there are no approved treatments. The anomaly of the GNE gene causes the lack of a fundamental enzyme for the production of a sugar. Without this sugar, the muscles cannot develop. As a result, those suffering from the disease take on sugars to replace the missing one. However, this can lead to a progressive increase in weight, not to mention liver problems. Also for this reason, Cardiff researchers are studying possible therapies.

The authors of the study found a way to bypass the non-functioning enzyme by restoring sugar production. In this way the muscles can develop in the correct way and disease slows down its progression. Treatment development is still in the early stages: researchers are conducting the first in vitro tests, on cells of patients suffering from the disease.

The next step will be to improve the chemical properties of the drug used, in order to improve its effectiveness and make it easier to take. Then we will move on to animal model trials and finally to those on humans. The road is therefore still long, though promising.

Source: pubs.acs.org/journal/jmcmar