Multiple sclerosis (MS) is a debilitating disease in which the immune system attacks the central nervous system leading to demyelination, or damage, to key components of nerve cells. It affects an estimated 400,000 people in the United States alone.
Demyelination is a process through which the myelin, an electrically insulating material that forms a layer around parts of a neuron, is damaged. The myelin sheath is essential for the proper functioning of the nervous system. Multiple sclerosis usually occurs in young adults, and it is more common in females. Almost any neurological symptom can appear with the disease, and often progresses to physical and cognitive disability. Although life span is only slightly shortened, most patients experience increasing disability and consequent deterioration in their quality of life.
Multiple sclerosis is caused by a complex interplay between several different genetic as well as environmental factors and has an increasing prevalence in populations residing at higher latitudes.
Researchers at the John P. Hussman Institute for Human Genomics are part of a national collaborative effort known as the Multiple Sclerosis Genetic Group (MSGG). Other partners include Vanderbilt University Medical Center, the University of California at San Francisco and UC Berkeley. In 1996, the MSGG completed one of the first genomic screens aimed at identifying the location of MS susceptibility regions.
In two recent studies, the HIHG research team led by Drs. Margaret Pericak-Vance and Jacob L. McCauley identified a MS susceptibility gene in interferon8 (IRF8) and several susceptibility genes in the tyrosine kinase 2 (TYK2) loci. The findings may point to a key early event that contributes to the onset of MS.
HIHG’s continued efforts towards identification of susceptibility regions in different genes contributing to MS will help in developing better understanding of the genetic predisposition of potential victims and better-targeted therapies for the disease.