Abstract
BackgroundMultiple sclerosis (MS) is a complex disorder of the central nervous system whose cause is currently unknown. Evidence is increasing that DNA methylation alterations could be involved in inflammatory and neurodegenerative diseases and could contribute to MS pathogenesis. Repetitive elements Alu, LINE-1 and SAT-α, are widely known as estimators of global DNA methylation. We investigated Alu, LINE-1 and SAT-α methylation levels to evaluate their difference in a case–control setup and their role as a marker of disability.ResultsWe obtained blood samples from 51 MS patients and 137 healthy volunteers matched by gender, age and smoking. Methylation was assessed using bisulfite-PCR-pyrosequencing. For all participants, medical history, physical and neurological examinations and screening laboratory tests were collected. All repetitive elements were hypermethylated in MS patients compared to healthy controls. A lower Expanded Disability Status Scale (EDSS) score was associated with a lower levels of LINE-1 methylation for ‘EDSS = 1.0’ and ‘1.5 ≤ EDSS ≤ 2.5’ compared to an EDSS higher than 3, while Alu was associated with a higher level of methylation in these groups: ‘EDSS = 1.0’ and ‘1.5 ≤ EDSS ≤ 2.5’.ConclusionsMS patients exhibit an hypermethylation in repetitive elements compared to healthy controls. Alu and LINE-1 were associated with degree of EDSS score. Forthcoming studies focusing on epigenetics and the multifactorial pathogenetic mechanism of MS could elucidate these links further.Electronic supplementary materialThe online version of this article (doi:10.1186/s12863-016-0395-0) contains supplementary material, which is available to authorized users.
Highlights
Multiple sclerosis (MS) is a complex disorder of the central nervous system whose cause is currently unknown
Evidence is increasing that epigenetic mechanisms could be involved in inflammatory and neurodegenerative diseases and some studies have suggested that changes in these mechanisms could contribute to Multiple Sclerosis (MS) pathogenesis, representing a bridge between genetics and environmental causal factors [7]
These findings suggest that MS patients have an altered methylation of repetitive elements in blood leukocytes compared to healthy individuals
Summary
Multiple sclerosis (MS) is a complex disorder of the central nervous system whose cause is currently unknown. Evidence is increasing that DNA methylation alterations could be involved in inflammatory and neurodegenerative diseases and could contribute to MS pathogenesis. We investigated Alu, LINE-1 and SAT-α methylation levels to evaluate their difference in a case–control setup and their role as a marker of disability. Multiple Sclerosis (MS) is a neurodegenerative disease involving the central nervous system (CNS) in which the infiltration of focal lymphocytes in myelin causes inflammatory lesions leading to axonal damage [1]. Evidence is increasing that epigenetic mechanisms could be involved in inflammatory and neurodegenerative diseases and some studies have suggested that changes in these mechanisms could contribute to MS pathogenesis, representing a bridge between genetics and environmental causal factors [7]. DNA methylation has been the most extensively studied epigenetic marker.
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