Wednesday, 12 July 2023 10:48

Genome-wide association study: important clues to single nucleotide polymorphisms in multiple sclerosis Featured

As published online in Nature in late June, a study suggests that although the beginnings of multiple sclerosis are based on autoimmune disease, the progression of the disease in individual patients depends partly on how well the brain copes with the autoimmune attack.

Multiple sclerosis (MS) is an inflammatory disease of the central nervous system that affects the brain and spinal cord. It usually begins in early adulthood. The symptoms and therapeutic success vary so much from patient to patient that general statements can only be made to a limited extent.* As with other autoimmune diseases, a faulty immune system attacks healthy tissue. Multiple sclerosis (MS) remains "an immune system problem," said co-author Stephen Sawcer, a professor at the University of Cambridge and Cambridge University Hospitals NHS Foundation Trust, to BioWorld. However, the severity of MS varies considerably. The disease can cause patients to be wheelchair-bound, or it can go unnoticed.

In the study, two MS research consortia combined forces and data to conduct the first genome-wide association study (GWAS) to identify genetic risk factors for disease severity. Examining more than 22,000 cases, the team identified a genetic variant (a single nucleotide polymorphism (SNP)) that strongly affects how quickly MS progresses after diagnosis. The researchers identified the SNP rs10191329. This SNP is located at the gene that codes for dysferlin, a protein that plays a role in muscular dystrophies. When not damaged, dysferlin repairs damaged membranes of cells. However, there are probably other mechanisms that influence the brain's resistance to autoimmune attacks, the scientists conclude.

GWAS does not allow prediction of the further development of MS in patients because the researchers found only one SNP, but GWAS is a useful method for finding other SNPs that may be associated with the severity of the development of MS, Sawcer said.

International Multiple Sclerosis Genetics Consortium, MultipleMS Consortium.Locus for severity implicates CNS resilience in progression of multiple sclerosis.Nature (2023).

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