Publications by authors named "E Mascia"
Background: Inter-individual differences in treatment response are marked in multiple sclerosis (MS). This is true for Natalizumab (NTZ), to which a subset of patients displays sub-optimal treatment response. We conducted a multi-centric genome-wide association study (GWAS), with additional pathway and network analysis to identify genetic predictors of response to NTZ.
View Article and Find Full Text PDFVitamin D affects the risk of disease activity in multiple sclerosis.
J Neurol Neurosurg Psychiatry
July 2024
Background: Vitamin D (VitD) affects the risk of multiple sclerosis (MS), but the impact on disease activity is controversial. We assessed whether VitD is associated with the No-Evidence of Disease Activity-3 (NEDA-3) status at 2 years from disease-modifying treatment (DMT) start, and whether this association is causal or the result of confounding factors. Furthermore, we explored if a genetic predisposition to higher VitD levels affects the risk of disease activity.
View Article and Find Full Text PDFSmall-Fiber Neuropathy (SFN) is a disorder of the peripheral nervous system, characterised by neuropathic pain; approximately 11% of cases are linked to variants in Voltage-Gated Sodium Channels (VGSCs). This study aims to broaden the genetic knowledge on painful SFN by applying Whole-Exome Sequencing (WES) in Early-Onset (EO) cases. A total of 88 patients from Italy (n = 52) and the Netherlands (n = 36), with a disease onset at age ≤ 45 years old and a Pain Numerical Rating Score ≥ 4, were recruited.
View Article and Find Full Text PDFArticle Synopsis
- Multiple sclerosis (MS) is a diverse condition with varying symptoms and treatment responses, prompting a study on its genetic causes related to disease activity over time.
- Researchers analyzed genetic data from two groups of relapsing-remitting MS patients, examining their genomes and specific gene interactions in brain and lymphocyte tissues to identify key genetic variants and pathways involved in MS.
- The study found 23 genetic variants and 223 associated genes, with significant genes such as PON2 and ILRUN linked to oxidative stress and immune modulation, revealing shared and tissue-specific mechanisms driving MS disease activity.
Article Synopsis
- - This study investigates how DNA methylation, influenced by both genetic and environmental factors, affects disease activity in multiple sclerosis (MS) patients.
- - Researchers analyzed the methylomes of 249 untreated relapsing-remitting MS patients and found four differentially methylated regions correlating with varying disease activity over two years.
- - The findings revealed a significant relationship between specific genetic variants related to the anti-Mullerian hormone and disease activity risk, highlighting a new pathway for understanding MS and the role of sex hormones in its progression.