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Wednesday, 28 March 2018

Darwinian Factors in the Clinical Expression of Multiple Sclerosis




Manypredisposing factors for multiple sclerosis (MS), such as HLA types and geomagnetic fields have been described but the search for a single essential factor has been like searching for the rainbow’s end. The most notable feature in the epidemiology of MS in the Western world has been its rise from unknown to the most prevalent disabling neurodegenerative disease of young adults. We suggest that this may be largely or entirely attributable to societal changes that have increasingly isolated populations from micro-organisms that form part of the human microbiome and which are essential for an effective maturation of immune defence mechanisms. This Darwinian explanation suggests a rational approach to both prevention and treatment of MS, by substituting for the loss or absence of factors that millions of years of evolution have led the immune system to ‘expect’ to encounter early in life.

BCG: Bacille Calmette-Guérin; CDMS: Clinically Definite Multiple Sclerosis; CIS: Clinically Isolated Syndrome; EBV: Epstein- Barr virus; HERV: Human Endogenous Retrovirus; HLA: Human Leucocyte Antigen; IL: Interleukin; INF-α: Interferon Alpha; MAIT: Mucosal-associated Invariant T Cells; MAMP: Microbe-associated Molecular Pattern; MHC: Major Histocompatibility Complex; MRI: Magnetic Resonance Imaging; MS: Multiple Sclerosis; TCR: T Cell Antigen Receptor; TNF-α: Tumour Necrosis Factor Alpha; Treg: Regulatory T Cell; PRR: Pattern Recognition Receptor; TLR: Toll-like Receptor; RA: Retinoic Acid.

Current treatment strategies for multiple sclerosis (MS) are essentially empirical because no single clear underlying cause of the disease has been determined. Numerous genomic and environmental risk factors for MS have been described, but problems of cause and effect remain unresolved. It has indeed been stated, with considerable justification, that MS research is “low on fact, high on fiction” .


Although there is a well-described genetically determined predisposition to MS, the association is far from complete as, for example, the risk of an identical twin sibling of an affected person developing MS is only 30%. Thus any genes involved are likely to be of low penetration and influenced by the expression of some or many other genes. Notwithstanding, a large number of genetic loci, including many coding for HLA, have been determined and fine-mapped. These studies have demonstrated a central role for the immune system in the aetiopathogenesis of MS but the highly complex nature of the data will require novel tools for their analysis before any unifying factor can be delineated.








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