RT Journal Article
T1 Predictive Value of Serum Antibodies and Point Mutations of AQP4, AQP1 and MOG in A Cohort of Spanish Patients with Neuromyelitis Optica Spectrum Disorders.
A1 Garcia-Miranda, Pablo
A1 Moron-Civanto, Francisco J
A1 Martinez-Olivo, Maria Del Mar
A1 Suarez-Luna, Nela
A1 Ramirez-Lorca, Reposo
A1 Lebrato-Hernandez, Lucia
A1 Lamas-Perez, Raquel
A1 Navarro, Guillermo
A1 Abril-Jaramillo, Javier
A1 Garcia-Sanchez, Maria Isabel
A1 Casado-Chocan, Jose Luis
A1 Ucles-Sanchez, Antonio Jose
A1 Romera, Mercedes
A1 Echevarria, Miriam
A1 Diaz-Sanchez, Maria
K1 AQPs
K1 MOG
K1 NMOsd
K1 demyelinating disease
K1 gene sequencing
K1 immunohistochemistry
AB 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.
PB MDPI AG
YR 2019
FD 2019-11-19
LK http://hdl.handle.net/10668/14726
UL http://hdl.handle.net/10668/14726
LA en
NO García-Miranda P, Morón-Civanto FJ, Martínez-Olivo MDM, Suárez-Luna N, Ramírez-Lorca R, Lebrato-Hernández L, et al. Predictive Value of Serum Antibodies and Point Mutations of AQP4, AQP1 and MOG in A Cohort of Spanish Patients with Neuromyelitis Optica Spectrum Disorders. Int J Mol Sci. 2019 Nov 19;20(22):5810.
DS RISalud
RD Jul 2, 2025