Gene Therapy May Improve Multiple Sclerosis Treatment

Genetic variant regulates response to leading multiple sclerosis therapy.

A gene that is involved in multiple sclerosis (MS) disease activity may present a promising treatment target for investigators.

A study published in the Annals of Neurology reported the discovery of a genetic variant called SLC9A9 influences the likelihood of a patient responding to treatment with interferon-beta. The study notes that the SLC9A9 gene may serve a wide purpose in regulating the development and activity of particular immune cells that play a vital role in MS.

"This study highlights the fact that genetic variation has a role in the course of a patient's disease in MS, but that this role is modest and will require much larger studies to be understood in detail," researcher Philip De Jager, MD, PhD, said in a press release. "We need to expand this type of international, collaborative science."

The researchers conducted a genome-wide association study in MS patients who were being treated with interferon-beta, which showed the variant most predictive of patient response to treatment was found in the SLC9A9 gene.

"Further work is now needed to validate our results in other collections of patients, particularly patients treated with other MS medications, to evaluate whether the effect of the genetic variant is limited to interferon beta treatment or is relevant to other clinical MS treatments," researcher Filippo Martinelli-Boneschi, MD, PhD, said in a press release.

The results indicate that the variant has a confirmed but weak role in MS, however, it was found that the loss of the SLC9A9 gene makes immune cells more likely to prompt damaging immune reactions.

"Manipulations of this gene in mice and in human cells will lead us to better understand mechanisms that are involved in the autoimmune response that causes MS," researcher Wassim Elyaman, PhD, said in a press release.