Abstract
Involvement of Genetic Factors in Multiple Sclerosis.
Highlights
Multiple sclerosis (MS) is the most common chronic inflammatory disease of the central nervous system (CNS) that affects young adults between 20 and 40 years of age, with a higher prevalence in females (Dilokthornsakul et al, 2016)
In more recent years it became clear that axonal loss and primary demyelination in the absence of acute inflammatory infiltrates are present since the earliest stages of the disease (Henderson et al, 2009), challenging the idea that neurodegeneration is secondary to CNS inflammation (Louapre and Lubetzki, 2015)
The results of genetic studies on MS susceptibility (The International Multiple Sclerosis Genetics Consortium et al, 2007; Patsopoulos et al, 2019) identified a strong enrichment of genes and biological processes implicated in immune functions, suggesting that a dysregulation of immune responses, promoted by the genetic background and potentially triggered by environmental factors, is the main mechanism of the disease
Summary
Multiple sclerosis (MS) is the most common chronic inflammatory disease of the central nervous system (CNS) that affects young adults between 20 and 40 years of age, with a higher prevalence in females (female-to-male ratio 3:1) (Dilokthornsakul et al, 2016). As a matter of fact, it is still unclear whether neurodegeneration is a direct consequence of inflammatory CNS injury or whether it represents a primitive independent process, and a better understanding of the interplay between these two aspects of the disease is warranted. In this perspective, studies investigating genetic factors associated with MS onset and progression can help to shed light on this matter; compared to cross-sectional histopathological studies that do not permit to establish temporal and/or causal relationship, genetic association studies allow to infer causality and to pinpoint molecular pathways and cell types that play a key role in MS pathogenesis
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