14 DAY TRIAL // Experts with the International Multiple Sclerosis Genetics Consortium and the Wellcome Trust Case Control Consortium announce the discovery of 29 new genetic variants that are linked to the development of an extremely severe neurological condition called multiple sclerosis (MS).
The new figure doubles the known number of genetic mutations that past investigations linked to the condition. The successful investigation was led by experts at the University of Cambridge and the University of Oxford, both in the United Kingdom.
According to the two teams, it would appear that the majority of newly-discovered mutations play a role in controlling the human immune system. As such, the new findings indicate that immunological pathways are also involved in the development of the condition.
Multiple sclerosis is a condition characterized by the degradation of the fatty myelin sheaths protecting neurons in the brain and spinal cord. Myelin is a critically-important substance in the body because it insulates nerve cells, allowing them to communicate via electrical signals.
When the sheath degrades, nerve cells start to display significant losses in the intensity of the electrical signals they are transferring to each other. This leads to a wide array of signs, symptoms and indications that the condition is setting in, investigators say.
Details of the new genetic investigation were published on the August 11 issue of the top scientific journal Nature. More than 250 scientists were involved in the largest MS genetic study ever conducted anywhere in the world.
The condition affects no less than 2.5 million people around the world. As such, finding a cure is a top priority for the international scientific community. Thus far, progress in this regard has been slow, because experts don't yet know all the mechanisms involved in triggering the condition.
“Identifying the basis for genetic susceptibility to any medical condition provides reliable insights into the disease mechanisms,” says University of Cambridge co-study leader Alastair Compston. University of Oxford expert Peter Donnelly was the other co-leader.
“Our research settles a longstanding debate on what happens first in the complex sequence of events that leads to disability in multiple sclerosis. It is now clear that multiple sclerosis is primarily an immunological disease. This has important implications for future treatment strategies,” Compston says.
“Our findings highlight the value of large genetic studies in uncovering key biological mechanisms underlying common human diseases,” adds Donnelly, who also leads the Wellcome Trust Case Control Consortium.
“This would simply not have been possible without a large international network of collaborators, and the participation of many thousands of patients suffering from this debilitating disease,” he concludes.