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Strategies for the identification of loci responsible for the pathogenesis of multiple sclerosis

Abstract

Multiple sclerosis (MS) is a chronic, debilitating disease, which manifests itself by de-myelination of the central nervous system (CNS). MS is predominantly found in Caucasians of European decent and is more prominent in females than males. MS is one of the most prevalent causes of disability of young adults in the world. The exact cause of MS is not known, however genetic susceptibility to MS is linked to the major histocompability complex (MHC). Self reactive CD4+ T cells, specific for CNS antigens, such as myelin basic protein (MBP), myelin oligodendrocyte glycoprotein (MOG) and proteolipid protein (PLP), are detectable in MS patients along with pathogenic autoantibodies specific to these CNS antigens produced by B cells. These observations suggest that MS is an autoimmune disease. Epidemiology of MS along with the analysis of sibling pairs and twins suggest that the multiple genetic factors and their interaction with environment contribute to disease susceptibility. Recent developments and advancements in genetic analysis may aid in accurate determination of genetic risk factors for the development of MS. We review these developments, advances in technology and discuss recent results in this article.

Abbreviations

CNS:

central nervous system

EAE:

experimental allergic encephalomyelitis

HLA:

human leukocyte antigen

MBP:

myelin basic protein

MHC:

major histocompability complex

MOG:

myelin oligodendrocyte glycoprotein

MS:

multiple sclerosis

PLP:

proteolipid protein

QLT:

quantitative trait loci

SNP:

single nucleotide polymorphism

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Stern, J.N.H., Keskin, D.B. Strategies for the identification of loci responsible for the pathogenesis of multiple sclerosis. Cell Mol Biol Lett 13, 656–666 (2008). https://doi.org/10.2478/s11658-008-0030-9

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  • DOI: https://doi.org/10.2478/s11658-008-0030-9

Key words

  • Multiple sclerosis
  • Experimental allergic encephalomyelitis
  • Single nucleotide polymorphisms
  • Genetic linkage studies
  • Genome wide association studies