Researchers at the University of California, University of Naples Federico II, and Brunel University London have shown that a drug used to treat Multiple Sclerosis (MS) is able to increase levels of frataxin.

Friedreich’s ataxia (FA) is caused by a genetic mutation in the frataxin gene, which leads to reduced expression of the gene, and thus reduced expression of the frataxin protein. Dimethyl fumarate (also known as DMF) is able to increase expression of the frataxin gene, and subsequently increase the amount of frataxin protein.

In this study, Professor Gino Cortopassi and his team showed that DMF treatment increased frataxin mRNA (the message that translates DNA into protein) and frataxin protein in cells from people with FA, and in mouse models of FA. Importantly, the researchers also showed that frataxin mRNA was increased in blood samples taken from people with MS that had been treated with DMF for 3 months.

The researchers also studied the mechanism by which DMF was able to increase frataxin expression. Genetic code consists of the letters A, T, G and C. In the genetic code of people with FA, a specific region of the code contains the letters ‘GAA’ repeated up to 1000 times. Unusual gene structures, called R-loops, form over the ‘GAA’ repeats and accumulate in cells from people with FA. It is thought that accumulation of R-loops causes a chain of harmful events within the cell, leading to the symptoms of FA. The researchers were able to show that after treatment with DMF, cells from people with FA contained less R-loops. They were also able to show that following treatment with DMF, cells contained more mitochondria, which is a part of the cell which is found in lower levels in people with FA.

These researchers are now planning a clinical trial to find out whether DMF will be effective in treating FA. Whilst this is exciting research, clinical trials are critical in determining the efficacy and safety of drugs, and must be carried out before a treatment can be recommended. Read the full article.

Posted on 17/07/19