The results of an MS genetic study published in Neuron earlier this year are now being called into question. You may remember that MStranslate did a summary on this article and interviewed the lead researcher, A/Prof Carles Vilarino-Guell (view here).

At the time, we were quick to correct other media reports that labeled the identified mutation as a cause of MS. Instead, we asserted that the data presented in the published article, indicated that this mutation might increase the risk of developing a specific, rapidly progressive form of MS. However, this was mostly found in a small family study and a number of unaffected people also had the mutation, indicating that other factors must also be at play.

New research from other groups using larger datasets has been unable to replicate these findings. They have claimed that there were statistical anomalies in the original paper and that their findings have shown the mutation to be only slightly more frequent in people with MS and therefore weakly associated with any increase in disease susceptibility.

A/Prof Vilarino-Guell is standing by his data, stating that family studies (not large database studies) are needed to identify such rare mutations. He has unpublished results that he says will provide additional support to the findings of the original article. We will continue to monitor this debate and provide any updates as they become available.

The full story on this issue can be found on the STAT website here.

Leave a Reply

Your email address will not be published.

This site uses Akismet to reduce spam. Learn how your comment data is processed.