An Oxford team led the research, published in Nature on 10 January, that uncovered the origins of multiple sclerosis (MS). Affecting 1 in 1000 people, MS makes the body’s immune system attack its own brain and spinal cord; however, the team found that many genetic variants of MS had originally developed to provide protection against diseases. This discovery helps reframe the cause and treatment of MS, marking a key milestone for doctors and patients.
The international team of researchers is composed of scientists from Oxford, Cambridge, Bristol, Copenhagen, and California (Berkeley). To identify the introduction of MS genetic variants to Western Europe, they analysed the DNA from samples of human bones and teeth held in museum collections across the region. In addition, to trace the differences between ancient and modern DNA, they compared data from a unique gene bank of ancient DNA to the UK Biobank, a biomedical database containing information and biological samples for over half a million UK participants.
Professor Lars Fugger of Oxford told Cherwell: “Ancient DNA is more fragmented than recently sampled DNA because it is older and clearly not kept under optimal conditions. Yet with new technology it is still very useful.”
The origin of these variants was found to be a migration of the Yamnaya people, herders from the Pontic Steppe (a region spanning parts of modern Ukraine, Russia, and Kazakhstan) 5,000 years ago. At the time, the new variants might have provided protection against infectious diseases from their domesticated animals; however, in our modern environment they only increase the risk of developing MS.
Understanding the origin of MS will help medical scientists develop a more effective treatment for the disease, Fugger explains. Historically, MS has been treated with drugs targeting the immune system, but there is a risk in suppressing the immune system “so effectively that patients are less well equipped to fight infections.” Instead, Fugger believes scientists need an approach that “recalibrates” the immune system in patients to suppress the disease.
Astrid Iversen, a professor of virology and immunology, points out that the selection process involving the human immune response is perpetually ongoing. As a result, our immune system is “the product of all the selection processes our ancestors underwent” and is always evolving. However, the team’s findings prove that our evolutionary history may cause us to be more susceptible to certain diseases due to the significant differences in our lifestyles from those of our ancestors, “including autoimmune diseases such as MS.”
Overall, the success of the study also shows the promise of analysing large data sets of the ancient human genome in gaining new understandings of diseases. Using this study as an example, the team now plans to continue their investigation with conditions such as ADHD and Alzheimer’s, and they hope to apply this method to study diseases across the world.
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