In a revolutionary, colossal genetic study published this week, researchers attributed the occurrence of autoimmune disease to 50 gene variants of which 29 are newly discovered.
Around 10,000 patients with multiple sclerosis from 15 countries and over 17,000 healthy individuals that comprised the control group were included in the controlled study conducted in the United Kingdom. The International Multiple Sclerosis Genetics Consortium involving a team of researchers from 129 institutions studying the genetics of MS conducted the research-a genome-wide analysis.
Although several single nucleotide polymorphisms were found through prior research, researchers were able to identify more variants due to the study of a large sample size. While around one-third of the variants have been incriminated for autoimmune diseases, such as Crohn’s, celiac disease, rheumatoid arthritis, lupus, and type 1 diabetes, nearly 50% of the them have been recognized to for their involvement in immune system function.
New treatments can be developed by improving the understanding of and identifying the genes involved in the development of MS. This also implies that similarities between other autoimmune diseases and MS could lead to the possibility of administering certain established treatments for more than one of the diseases.
Neurology professor, Dr. Alastair Compston, at the University of Cambridge in England explains: “When we look at the pathways, they are telling us loud and clear the earliest stages of this disease process involves some dysregulation of the immune system, particularly involving T lymphocytes. The general processes that go on in autoimmunity are shared. But why that common set of problems leads to diabetes in one and MS in another remains to be solved.”
Immune cells that perform scrutiny against infections are referred to as T lymphocytes. What is believed to happen in autoimmune diseases is that the lymphocytes identify body tissues as foreign and launch an immune system attack.
Director of the John P. Hussman Institute for Human Genomics at the University of Miami Miller School of Medicine, Margaret Pericak-Vance, continues: “MS is a complex disease. We know that. For a long time, we’ve known that genetics has played a role. But when we first started looking at the genetics, we thought it was going to be a simple answer. They identified HLA over 30 years ago as being involved in MS. Yet over time, we found out, it’s not that easy. MS is very heterogeneous. HLA doesn’t account for all of it, so we waited for technology to become available to learn more. This study absolutely gives the authority to press on with that particular strategy and to solve the problems around the safety and efficacy of these drugs.”
Any lingering doubts regarding MS being an autoimmune disease should be put to rest because of the very fact that so many new genes have been credited for their involvement with immune system function.
She concludes: “Even though MS is different from lupus and other autoimmune diseases, because of the common genes, there are some basic mechanisms that are the same across these disorders. Understanding those basic mechanisms, plus what is different, may help in coming up with new therapies and new targets.”