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Scientists Identify New Genetic Risk Factors for Multiple Sclerosis
In MS, the immune system attacks myelin, the fatty sheath that protects the cells of the central nervous system, rather like plastic insulation that protects electrical cables.
As a result, "short circuits" occur in the body's messaging system, because nerve signals get slowed or blocked. This leads to difficulties in movement and coordination, muscle weakness, cognitive impairment, slurred speech and vision problems.
Until now, investigations of the human genome have turned up only a cluster of variants of genes on Chromosome 6, in the so-called Major Histocompatibility Complex, which regulates the immune system.
But these genes were identified in the mid-1970s, leaving frustrated doctors to hunt for other culprits in the complex cascade of processes involved in MS.
The new suspects play a role in guiding key immune cells, called T cells, which patrol the body for intruders.
They carry the name of interleukin-7 receptor alpha, or IL7R-alpha, located on Chromosome 5, and interleukin-2 receptor alpha (IL2R-alpha) on Chromosome 10, which has previously been associated with Type 1 diabetes.
A single change in the genetic code in IL7-R, and two changes in IL2-R create the dangerous variants.
Each variant appears to boost the risk of MS by between 20 and 30 percent.
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