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Mesial Temporal Lobe Epilepsy (MTLE) Drug-Refractoriness Is Associated With P2X...
Guerra Leal, Bárbara; Barros-Barbosa, Aurora; Ferreirinha, Fátima; Chaves, João; Rangel, Rui; Santos, Agostinho; Carvalho, CláudiaObjective: ATP-gated ionotropic P2X7 receptors (P2X7R) actively participate in epilepsy and other neurological disorders. Neocortical nerve terminals of patients with Mesial Temporal Lobe Epilepsy with Hippocampal Sclerosis (MTLE-HS) express higher P2X7R amounts. Overexpression of P2X7R bolsters ATP signals during seizures resulting in glial cell activation, cytokines production, and GABAergic rundown with unre...
Circulating cell-free DNA methylation mirrors alterations in cerebral patterns ...
Martins-Ferreira, Ricardo; Leal, Bárbara; Chaves, João; Ciudad, Laura; Samões, Raquel; Martins da Silva, António; Pinho Costa, Paulo; Ballestar, EstebanBackground: DNA methylation profiling of circulating cell-free DNA (cfDNA) has rapidly become a promising strategy for biomarker identification and development. The cell-type-specific nature of DNA methylation patterns and the direct relationship between cfDNA and apoptosis can potentially be used non-invasively to predict local alterations. In addition, direct detection of altered DNA methylation patterns perf...
The Potential of Circulating Cell-Free DNA Methylation as an Epilepsy Biomarker
Martins-Ferreira, Ricardo; Leal, Bárbara Guerra; Costa, Paulo PinhoCirculating cell-free DNA (cfDNA) are highly degraded DNA fragments shed into the bloodstream. Apoptosis is likely to be the main source of cfDNA due to the matching sizes of cfDNA and apoptotic DNA cleavage fragments. The study of cfDNA in liquid biopsies has served clinical research greatly. Genetic analysis of these circulating fragments has been used in non-invasive prenatal testing, detection of graft reje...
Epilepsy progression is associated with cumulative DNA methylation changes in i...
Martins-Ferreira, Ricardo; Leal, Bárbara; Chaves, João; Li, Tianlu; Ciudad, Laura; Rangel, Rui; Santos, Agostinho; Martins da Silva, AntónioMesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS) is the most common focal epilepsy in adults. It is characterized by alarming rates of pharmacoresistance. Epileptogenesis is associated with the occurrence of epigenetic alterations, and the few epigenetic studies carried out in MTLE-HS have mainly focused on the hippocampus. In this study, we obtained the DNA methylation profiles from both the ...
Microglial innate memory and epigenetic reprogramming in neurological disorders
Martins-Ferreira, Ricardo; Leal, Bárbara; Costa, Paulo; Ballestar, EstebanMicroglia are myeloid-derived cells recognized as brain-resident macrophages. They act as the first and main line of immune defense in the central nervous system (CNS). Microglia have high phenotypic plasticity and are essential for regulating healthy brain homeostasis, and their dysregulation underlies the onset and progression of several CNS pathologies through impaired inflammatory responses. Aberrant microg...
Immunogenetic protective factors in Genetic Generalized Epilepsy
Chaves, João; Martins-Ferreira, Ricardo; Ferreira, Ana Marta; Brás, Sandra; Carvalho, Cláudia; Bettencourt, Andreia; Samões, Raquel; Monteiro, FábioBackground: Genetic Generalized Epilepsies (GGEs) are a heterogeneous group of syndromes characterized by generalized seizure activity that affects both hemispheres, with mainly genetic causes. Neuroinflammation has been established as an important mechanism in epileptogenesis. The ability to develop an appropriated immune response is strongly determined by immunogenetic factors. In this setting, our aim was to...
Apolipoprotein E isoforms and susceptibility to genetic generalized epilepsies
Chaves, João; Martins-Ferreira, Ricardo; Carvalho, Cláudia; Bettencourt, Andreia; Brás, Sandra; Chorão, Rui; Freitas, Joel; Samões, Raquel; Lopes, JoãoBackground: Apolipoprotein E (ApoE) is the main lipoprotein secreted in brain. It has a critical immunomodulatory function, influences neurotransmission and it is involved in repairing damaged neurons. ApoE e4 is an isoform of ApoE with altered function, and was previously associated with early onset epilepsy and refractoriness, both in animal models and in patients with focal epilepsies. There is a limited kno...