Living Like You brings you the latest in Multiple Sclerosis research: Minibrains could allow more accurate research for finding a cure.read more
After 20 years of painstaking work, researchers at the University of British Columbia may have made a discovery that could lead to a significant change in the way we see multiple sclerosis. If you listen closely, you may be able to hear the sound of champagne corks popping in a laboratory in Canada. So what’s the cause for celebration?
It has long been accepted that MS is a complex disease, triggered by a combination of genetic and environmental factors. About 10% to 15% of MS cases appear to have a hereditary component, but until now geneticists had failed to identify a gene that’s directly responsible for causing the condition.
The absence of a single MS gene is one of the reasons why it’s so tricky to diagnose the condition and is partly the reason why there isn’t a cure or way to prevent it. This latest discovery, however, could change all that for the thousands of people affected by the disease.
Thanks to an ambitious project funded by the MS Society of Canada and Multiple Sclerosis Scientific Research Foundation, scientists in Canada have identified a gene defect responsible for causing a rapidly progressive form of MS.
It all started back in 1993, when the researchers began examining DNA samples from 4, 400 people with MS as well as 8,600 blood relatives. The aim was to play a gigantic game of ‘spot the difference’ with the genomes to help identify a common defect in people with MS.
Discovery of an MS Gene
In seven out of 10 members of the same family who carried the gene, one genetic mutation has been found that is directly linked to progressive MS. The gene in question is called NR1H3, and the defect (think of it as a biological typo) appears to stop the production of a protein, known as a transcription factor, that is responsible for activating other genes, including ones that keep inflammation in check. Without the transcription factor, the immune system is free to go into overdrive, destroying myelin and wreaking havoc on the central nervous system.
While this is obviously bad news for the one in 1,000 people with MS who carry the defective gene, it gives scientists and researchers a starting point to work on future solutions for the disease.
Unlocking the MS Mystery At Last
The possibilities for scientists are just one way the discovery could be a game-changer. Now that researchers have identified the mutation, they will be able to develop new animal models of the disease, allowing them to study the exact biological pathways that lead to the development of MS. Investigating these early changes may make it possible to develop new solutions that stop them in their tracks, and possibly even prevent MS from developing.
So even if you’re not a carrier of this specific MS gene, the discovery could have a very real impact on the future. As scientific breakthroughs go, it’s a biggie – and one that could open the gateway for many more advances. If that’s not reason to celebrate, we don’t know what is.