It is now clear that multiple sclerosis is primarily an immunological disease. This has important implications for future treatment strategies.
A new study hailed as the largest genomic study of multiple sclerosis has identified 29 new genetic variants linked to the disease. Researchers say the findings are significant because a number of the genetic variants identified in the study have been previously implicated in other autoimmune diseases and may provide clues to treatments for multiple conditions.
An international consortium of researchers from 130 institutions, led by the Universities of Cambridge and Oxford, published the Wellcome Trust funded study in Nature. A second study published at the same time by researchers at Yale University and Harvard University in the journal PLoS Genetics, confirmed the common genetic links between multiple autoimmune diseases.
“We have known for some time that many devastating diseases of the immune system must have common genetic causes,” says Chris Cotsapas, assistant professor of neurology and genetics at Yale and lead author of the PLoS paper. “Now we have the outline of a map that tells us where we can look for common treatments.”
In the Nature study, researchers studied the DNA from 9,772 individuals with multiple sclerosis and 17,376 unrelated healthy controls. They were able to confirm 23 previously known genetic associations and identified a further 29 new genetic variants as well as five strongly suspected of conferring susceptibility to the disease.
Multiple sclerosis is a chronic disease that attacks the central nervous system as the body’s immune system attacks the protective sheath of nerve fibers and can cause severe symptoms such as paralysis or loss of vision. It affects 2.5 million individuals worldwide. The disease results from damage to nerve fibers and their protective insulation, the myelin sheath, in the brain and spinal cord. The findings focus on the pivotal role of the immune system in causing the damage.
The researchers said a large number of the genes identified in the study play pivotal roles in the function of T-cells, a type of white blood cell that attack pathogens, as well as the activation of interleukins, chemicals that ensure interactions between different types of immune cells.
Some one third of the genes identified in the research have previously been implicated as playing a role in other autoimmune diseases, such as Crohn's Disease, and Type 1 diabetes. That indicates that, as expected, the same general processes occur in more than one type of autoimmune disease.
Additionally, the researchers said two of the genes identified in the study are involved in the metabolism of Vitamin D. That’s interesting because previous research has suggested a link between Vitamin D deficiency and an increased risk of multiple sclerosis. It also suggests, the researchers say, a possible link between genetic and environmental risk factors.
“Our research settles a longstanding debate on what happens first in the complex sequence of events that leads to disability in multiple sclerosis,” says Alastair Compston of the University of Cambridge, who co-led the study. “It is now clear that multiple sclerosis is primarily an immunological disease. This has important implications for future treatment strategies.”
August 11, 2011
http://www.burrillreport.com/article-study_finds_29_new_genetic_variants_tied_to_ms.html