July 31, 2007 (Insidermedicine) New research published in the NEJM identifies new mutations in genes that may play a role in the development of MS- or multiple sclerosis. These findings may one day lead to new treatments for the condition.

Here is what we know about MS :

•       It is the most common cause neurological problem in young people aged 15–40
•       The disease is thought to be caused by the body’s immune system attacking mylein- the insulation surrounding the nerves.
•      Some symptoms of MS include blurred vision, problems maintaining balance and parital or total paralysis.
•       As well, in some people symptoms can diminish for a time before recurring. Currently, there is no cure for MS.

No one knows for sure what causes the condition. It has long been believed that a persons genetic makeup is a risk factor for developing this condition. This present study was conducted to find out if a mutation in specific genes raised the risk for this condition.

To perform their study researchers studies the genetic material from over 900 "family trios" – an affected child and both parents.

The study showed that those with MS had mutations in genes that were responsible for coding of the receptors to interleukins- the substances that allow various parts of the immune system to communicate with one another.

Since a malfunctioning immune system is suspected of being the trigger of MS, the discovery of two mutations that are present much more often in people with MS than in those without MS is an important finding.

The researchers hope that their discovery will lead to genetic tests that will detect the presence of the mutations and, even better, treatments that correct the mutations. These goals are still some ways off, however. For now, people who develop any of the symptoms of MS should see their doctor because there are medicines that may help.

For Insidermedicine, I'm Dr. Susan Sharma.