Multiple Sclerosis and Personalized Medicine
For people with multiple sclerosis who choose to take medications, identifying which one or ones will be effective is a challenge and often discouraging. Now a team in Italy has discovered a specific gene mutation that may eventually help bring personalized medicine to multiple sclerosis patients.
Personalized medicine is an emerging field, and the area that is getting the most action is in cancer treatment. However, Federica Esposito, MD, PhD, and her team at San Raffaele Scientific Institute in Milan may now know why certain people with MS respond differently to different medications for the disease, such as interferon-β (IFNβ).
Interferon-β medications are similar to the interferon that the body produces naturally in response to disease. Although experts do not entirely understand how these medications work, they do know they have an impact on the immune system, fight viral infections and inflammation, and help prevent loss of myelin (demyelination).
New multiple sclerosis research
The answer seems to lie with a certain mutation associated with the SLC9A9 gene. Based on the research conducted by the Italian team, people with multiple sclerosis with remitting-relapsing MS who have this gene mutation experience more frequent relapses despite treatment with interferon-β (e.g., Avonex, Betaseron, Extavia, Rebif).
More specifically, a variant named rs9828519G was found to help predict how patients with multiple sclerosis will respond to treatment. From their research, the authors noted that expression of SLC9A9 mRNA is diminished in patients with MS who are more likely to experience relapses.
The investigators then explained that individuals with the mutation may not be good candidates for interferon-β but rather for a different option. Such information may help healthcare professionals someday better screen patients with multiple sclerosis for a treatment that has the best chance of being effective.
This screening approach is not yet available. However, as experts continue to decode the human DNA and get a better grasp of gene mutations, personalized medicine for multiple sclerosis may become a reality.
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Esposito F et al. A pharmacogenetic study implicates SLC9a9 in multiple sclerosis disease activity. Annals of Neurology 2015 Jul; 78(1): 115-27