A recent study published in the journal Nature Communications highlights a potential therapy for the treatment of muscular dytrophies and other diseases linked to mutations of the FKRP gene. In the study, the scientists found that an orally administered dose of ribitol could help restore and improve muscle function in patients with diseases caused by FKRP mutations.
FKRP Mutations
The FKRP gene is linked to several different types of congenital muscular dytrophy, including limb girdle muscular dystrophy, muscle-eye-brain disease, and Walker-Warburg syndrome. Mutations of this gene can lead to the insufficiency of a substance called alpha-DG, which plays a role in the development of neurons. In addition, and most critically to muscular dystrophy, alpha-DG is essential muscular functioning and integrity.
About The Study
The study involved multiple experiments to test whether ribitol could help restore muscle integrity and respiratory function in mice with FKRP mutations that cause symptoms similar to muscular dystrophy. In the first experiment, an oral dose of 5% ribitol was able to restore breathing and muscle functionality in mice at both three and six months. These mice were able to breathe more powerfully, and diseased characteristics of their muscles, such as fibrotic tissue, noticeable decreased. Analysis of the mice confirmed that their expression of alpha-DG was higher than before they received treatment.
A second experiment tested the effectiveness of ribitol when it was introduced before clinical signs and symptoms of limb girdle muscular dystrophy first appeared. This was a 10% dose and in this test the drug was able to improve skeletal muscle performance and respiration. Ribitol also did not appear to have particularly strong side effects.
A New Potential Therapy
Clearly, ribitol could be a potentially viable treatment for patients with limb girdle muscular dystrophy and other diseases which can result from FKRP mutations. While it will be a while before it can be tested in patients, the treatment offers several enticing advantages that make it a suitable candidate beyond its mere effectiveness.
First of all, ribitol is a relatively cheap medication to obtain and produce. In addition, administration of the drug is about as simple as it gets, as it can be injested orally. In addition, the drug does not produce serious side effects and should be useful for any patient with the relevant mutation.
Hopefully, clinical trials with ribitol as a treatment for limb girdle muscular dystrophy and other diseases caused by FKRP mutations will begin before too long.
