Publications by authors named "Patricia Urbaneja-Romero"
Article Synopsis
- Multiple sclerosis (MS) is an inflammatory central nervous system disease marked by myelin loss and neuronal issues, with most cases being non-familial but some familial forms identified.
- Researchers conducted whole-exome sequencing on 132 patients from 34 multi-incident families, identifying likely pathogenic variants in 12 genes related to the innate immune system, which influence inflammation.
- The identified variants point to a disruption in key immune and inflammatory pathways, providing insight into the chronic inflammation, demyelination, and neurodegeneration associated with familial MS.
The alteration of DNA methylation patterns are a key component of disease onset and/or progression. Our objective was to evaluate the differences in Long Interspersed Nuclear Element-1 (LINE-1) methylation levels, as a surrogate marker of global DNA methylation, between multiple sclerosis (MS) patients and healthy controls. In addition, we assessed the association of LINE-1 methylation with clinical disease activity in patients treated with IFNbeta (IFNβ).
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