April 2015
Dr. Jose Álvarez-Cermeño and Dr. Luisa Villar from Instituto Ramón y Cajal de Investigación Sanitaria in Madrid, Spain recently published in the journal Nature Reviews Neurology a review on the work developed by Dr. An Goris and colleagues on the link between genetic factors and multiple sclerosis (MS), published in January 2015 – Genetic variants are major determinants of CSF antibody levels in multiple sclerosis; Brain 138, 632-643. The review is entitled “Multiple sclerosis: Genetic variability affects CNS IgG production in MS.”
MS is a chronic, progressive neurodegenerative disorder that results from the attack on the central nervous system by the body’s own immune system, causing inflammation and damage to the myelin layer that covers and protects neurons. Myelin loss leads to impairment in signal transmission along nerve fibers, affecting motor function (e.g. walking, speaking) and causing irreversible neurological disability. It is thought that both genetic and environmental factors can contribute to the risk of developing MS.
According to the authors, MS has traditionally been considered a T-cell-mediated autoimmune disease, but studies have suggested that other types of immune cells, namely B cells and B-cell-produced antibodies, play a role in MS. In fact, more than 90% of MS patients have in their central nervous systems local synthesis of IgG, the most common type of antibody produced by B cells in circulation in the body. This phenomenon indicates that the central nervous system in MS patients suffers aberrant immune system activation.
Dr. Goris and colleagues have conducted a genome-wide association study (GWAS) to assess the role played by genetic factors in IgG antibody production and clinical disease features in the cerebrospinal fluid (CSF) of a cohort of over 6,000 MS patients. A higher IgG synthesis (determined by the presence of oligoclonal IgG bands in the CSF and through a high IgG index) was found to be linked to specific genetic variants, more specifically to single nucleotide polymorphisms (SNPs) in the HLA-DRB01*15:01 allele and in a locus near the SMAD4 gene, both genetic variants that have been previously associated to MS development.
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