dc.contributor
Institut Català de la Salut
dc.contributor
[Moreno-Estellés M] Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER)—Instituto de Salud Carlos III, Valencia, Spain. Instituto de Biomedicina de Valencia, CSIC, Valencia, Spain. [Machio M, González L] Neurology Department, Instituto de Investigación Sanitaria Fundación Jiménez Díaz, Madrid Autonomous University (IIS-FJD, UAM), Madrid, Spain. [Albuixech M] Instituto de Biomedicina de Valencia, CSIC, Valencia, Spain. [Abraira L, Quintana M, Toledo M] Unitat d’Epilèpsia, Servei de Neurologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain
dc.contributor
Vall d'Hebron Barcelona Hospital Campus
dc.contributor.author
Moreno Estelles, Mireia
dc.contributor.author
Machio, María
dc.contributor.author
González González, Laura
dc.contributor.author
Albuixech, Marta
dc.contributor.author
Abraira del Fresno, Laura
dc.contributor.author
Quintana, Manuel
dc.contributor.author
Toledo, Manuel
dc.date.accessioned
2025-10-01T01:32:30Z
dc.date.available
2025-10-01T01:32:30Z
dc.date.issued
2025-08-06T07:28:30Z
dc.date.issued
2025-08-06T07:28:30Z
dc.identifier
Moreno-Estellés M, Machio M, González L, Albuixech M, Abraira L, Quintana M, et al. Identification of Plasma Growth Factors and Cytokines as Diagnostic Biomarkers for the Lafora Form of Progressive Myoclonus Epilepsy. Int J Mol Sci. 2025 Jun;26(11):5354.
dc.identifier
http://hdl.handle.net/11351/13494
dc.identifier
10.3390/ijms26115354
dc.identifier
001505968600001
dc.identifier.uri
http://hdl.handle.net/11351/13494
dc.description.abstract
Lafora disease; Diagnostic biomarker; Plasma samples
dc.description.abstract
Malaltia de Lafora; Biomarcador diagnòstic; Mostres de plasma
dc.description.abstract
Enfermedad de Lafora; Biomarcador diagnóstico; Muestras de plasma
dc.description.abstract
Lafora progressive myoclonus epilepsy (LD, OMIM#254780, ORPHA:501) is an ultra-rare and severe autosomal recessive neurological disorder that typically manifests in early adolescence. It is characterized by the accumulation of insoluble forms of aberrant glycogen in the brain and peripheral tissues. Given the urgent need for reliable tools to monitor disease progression, we aimed to identify reliable biomarkers in minimally invasive fluids, which could also provide valuable insights into the natural history of the disease. Plasma-EDTA samples from eleven LD patients and healthy controls were analyzed to identify potential biomarkers of LD using a high-throughput assay. The findings were subsequently validated using specific enzyme-linked immunosorbent assays (ELISAs). Eleven cytokines and growth factors were identified to be significantly reduced in LD patient samples compared to healthy controls. Among these, four mediators [platelet-derived growth factor subunit B (PDGF-BB), epidermal growth factor (EGF), brain derived growth factor (BDNF), and macrophage migration inhibitory factor (MIF)] exhibited the greatest fold change between the groups and were further validated. Given the minimally invasive nature of plasma sampling and the straightforward quantification via ELISA assays, these biomarkers hold strong promise for rapid translation to the clinic, potentially enhancing early diagnosis and longitudinal disease monitoring in LD patients.
dc.description.abstract
This work was supported by grants from the Spanish Ministry of Science and Innovation (PID2023-148103OB-I00), la Fundació La Marató TV3 (202032), CIBERER (ACCI2020 and ACCI2023-03-742), and the Prometeo program from Generalitat Valenciana (CIPROM2022/42) to P.S.
dc.format
application/pdf
dc.relation
International Journal of Molecular Sciences;26(11)
dc.relation
https://doi.org/10.3390/ijms26115354
dc.rights
Attribution 4.0 International
dc.rights
http://creativecommons.org/licenses/by/4.0/
dc.rights
info:eu-repo/semantics/openAccess
dc.subject
Marcadors bioquímics
dc.subject
Factor de creixement epidèrmic
dc.subject
Mioclònia - Diagnòstic
dc.subject
Epilèpsia - Diagnòstic
dc.subject
DISEASES::Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Epilepsy::Epilepsy, Generalized::Epilepsies, Myoclonic::Myoclonic Epilepsies, Progressive::Lafora Disease
dc.subject
Other subheadings::Other subheadings::/diagnosis
dc.subject
CHEMICALS AND DRUGS::Biological Factors::Biomarkers
dc.subject
CHEMICALS AND DRUGS::Amino Acids, Peptides, and Proteins::Peptides::Intercellular Signaling Peptides and Proteins::Cytokines
dc.subject
CHEMICALS AND DRUGS::Amino Acids, Peptides, and Proteins::Peptides::Intercellular Signaling Peptides and Proteins::EGF Family of Proteins::Amino Acids, Peptides, and Proteins::Epidermal Growth Factor
dc.subject
ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades cerebrales::epilepsia::epilepsia generalizada::epilepsias mioclónicas::epilepsias mioclónicas progresivas::enfermedad de Lafora
dc.subject
Otros calificadores::Otros calificadores::/diagnóstico
dc.subject
COMPUESTOS QUÍMICOS Y DROGAS::factores biológicos::biomarcadores
dc.subject
COMPUESTOS QUÍMICOS Y DROGAS::aminoácidos, péptidos y proteínas::péptidos::péptidos y proteínas de señalización intercelular::citocinas
dc.subject
COMPUESTOS QUÍMICOS Y DROGAS::aminoácidos, péptidos y proteínas::péptidos::péptidos y proteínas de señalización intercelular::familia de proteínas EGF::aminoácidos, péptidos y proteínas::factor de crecimiento epidérmico
dc.title
Identification of Plasma Growth Factors and Cytokines as Diagnostic Biomarkers for the Lafora Form of Progressive Myoclonus Epilepsy
dc.type
info:eu-repo/semantics/article
dc.type
info:eu-repo/semantics/publishedVersion
