The Ongoing Search for Genetic Markers

Patients with MS and their physicians have long been aware that the risk of acquiring the disease is higher when there is a history of MS in the family.

Patients with MS and their physicians have long been aware that the risk of acquiring the disease is higher when there is a history of MS in the family. Epidemiologic researchers have tracked genetic commonalities among patients and their relatives across affected families.

When biologic investigations of genetic codes became possible, these new tools were applied to widen our understanding of genetic similarities across families and to begin mapping molecular variants common to MS activity. During the past decade, relatively small research projects have successfully identified more than 20 risk loci and,

importantly, have shown that multiple variants, which exert modest effects individually, play key roles in determining MS susceptibility.

A 2011 study reported a great stride forward in unraveling the genetic complexities underlying MS risk and progression of disease. Through a fascinating methodology, the international collaborative research effort has verified genetic discoveries from smaller investigations, replicating almost all of the previously identified variant associations, as well as identifying 29 novel susceptibility locations. to the identified loci [of the targeted activity] and particularly implicate T-helper-cell differentiation in the pathogenesis of MS.

Thus, even though MS is not directly inherited, researchers are getting much closer to understanding which genes make some people more susceptible to developing MS, as well as which may provide good targets for therapies to halt progression and degenerative effects.

Source

• Sawcer S, Hellenthal G, Pirinen M, et al, for the Wellcome Trust Case Control Consortium 2 (WTCCC2) project and the International Multiple Sclerosis Genetics Consortium. Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. Nature. 2011;476:214-219.