Abstract

Multiple Sclerosis (MS) is an inflammatory disease of the central nervous system. Sardinia, an Italian island, is one of the areas with the highest global prevalence of MS. Genetic factors have been widely explored to explain this greater prevalence among some populations; the genetic makeup of the Sardinians appears to make them more likely to develop autoimmune diseases. A strong association between MS and some infections have been reported globally. The most robust evidence indicating the role of infections is MS development concerns the Epstein-Barr virus (EBV). Anti-EBV antibodies in patients once infected by EBV are associated with the development of MS years later. These features have also been noted in Sardinian patients with MS. Many groups have found an increased expression of the Human endogenous retroviruses (HERV) family in patients with MS. A role in pathogenesis, prognosis, and prediction of treatment response has been proposed for HERV. A European multi-centre study has shown that their presence was variable among populations, ranging from 59% to 100% of patients, with higher HERV expression noted in Sardinian patients with MS. The mycobacterium avium subspecies paratuberculosis (MAP) DNA and antibodies against MAP2694 protein were found to be associated with MS in Sardinian patients. More recently, this association has also been reported in Japanese patients with MS. In this study, we analysed the role of infectious factors in Sardinian patients with MS and compared it with the findings reported in other populations.

Highlights

  • Multiple Sclerosis (MS) is an autoimmune disease of the central nervous system with an increasing incidence and prevalence in geographical regions with higher latitude, in both the hemispheres [1]

  • Various studies estimate that previous Epstein-Barr virus (EBV) infection with mononucleosis increases the risk of MS to the same degree as that of carrying human-leukocyte antigen (HLA) DRB1 15*01, which is the strongest genetic factor associated with the disease [26]

  • In a European multicentre study, Human endogenous retroviruses (HERV)-W was detected in approximately 100% of Sardinian patients with MS, while its presence was lower in other populations

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Summary

INTRODUCTION

Multiple Sclerosis (MS) is an autoimmune disease of the central nervous system with an increasing incidence and prevalence in geographical regions with higher latitude, in both the hemispheres [1]. Recent data indicates the incidence of MS in areas of lower latitude, as well as its prevalence, has increased in Europe and North America, with a high MS incidence in some southern areas [2]. It is known as an exception to this gradient Sardinia, an Italian island where the presence of MS is among the highest worldwide. The prevalence of the disease in Sardinia is 361/ 100,000 inhabitants [3]. The Sardinian population has a peculiar genetic background that could partly explain this primacy [4, 5]. The main predisposing risk factor for MS in North

Multiple Sclerosis and Infectious Factors
CONCLUSIONS
Findings
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