2026-04-29T04:08:38Zhttps://repisalud.isciii.es/rest/oai/request
oai:repisalud.isciii.es:20.500.12105/252532024-10-23T10:07:12Zcom_20.500.12105_15322com_20.500.12105_2051col_20.500.12105_16958
Repisalud author García-Miranda, Pablo author Morón-Civanto, Francisco J author Martínez-Olivo, Maria Del Mar author Suárez-Luna, Nela author Ramírez-Lorca, Reposo author Lebrato-Hernández, Lucía author Lamas-Pérez, Raquel author Navarro, Guillermo author Abril-Jaramillo, Javier author García-Sánchez, Maria Isabel author Casado-Chocán, José Luis author Uclés-Sánchez, Antonio José author Romera, Mercedes author Echevarría, Miriam author Díaz-Sánchez, María 2024-10-23T10:07:12Z 2024-10-23T10:07:12Z 2019-11-19 http://hdl.handle.net/10668/14726 https://hdl.handle.net/20.500.12105/25253 31752329 10.3390/ijms20225810 1422-0067 International journal of molecular sciences The detection of IgG aquaporin-4 antibodies in the serum of patients with Neuromyelitis optica (NMO) has dramatically improved the diagnosis of this disease and its distinction from multiple sclerosis. Recently, a group of patients have been described who have an NMO spectrum disorder (NMOsd) and who are seronegative for AQP4 antibodies but positive for IgG aquaporin-1 (AQP1) or myelin oligodendrocyte glycoprotein (MOG) antibodies. The purpose of this study was to determine whether AQP1 and MOG could be considered new biomarkers of this disease; and if point mutations in the gDNA of AQP4, AQP1 and MOG genes could be associated with the etiology of NMOsd. We evaluated the diagnostic capability of ELISA and cell-based assays (CBA), and analyzed their reliability, specificity, and sensitivity in detecting antibodies against these three proteins. The results showed that both assays can recognize these antigen proteins under appropriate conditions, but only anti-AQP4 antibodies, and not AQP1 or MOG, appears to be a clear biomarker for NMOsd. CBA is the best method for detecting these antibodies; and serum levels of AQP4 antibodies do not correlate with the progression of this disease. So far, the sequencing analysis has not revealed a genetic basis for the etiology of NMOsd, but a more extensive analysis is required before definitive conclusions can be drawn. eng AQPs MOG NMOsd Demyelinating disease Gene sequencing Immunohistochemistry Predictive Value of Serum Antibodies and Point Mutations of AQP4, AQP1 and MOG in A Cohort of Spanish Patients with Neuromyelitis Optica Spectrum Disorders. research article