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Article

Predictive Value of Serum Antibodies and Point Mutations of AQP4, AQP1 and MOG in A Cohort of Spanish Patients with Neuromyelitis Optica Spectrum Disorders

1
Instituto de Biomedicina de Sevilla (IBiS), Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, 41013 Seville, Spain
2
Unidad de Gestión Clínica de Neurociencias, Servicio de Neurología del Hospital Universitario Virgen del Rocío, 41013 Sevilla, Spain
3
Servicio de Neurología del Hospital Universitario Virgen Macarena, 41009 Sevilla, Spain
4
Servicio de Neurología del Hospital Universitario Virgen de Valme, 41014 Sevilla, Spain
*
Authors to whom correspondence should be addressed.
These authors contributed equally to this work.
Int. J. Mol. Sci. 2019, 20(22), 5810; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms20225810
Received: 26 September 2019 / Revised: 11 November 2019 / Accepted: 17 November 2019 / Published: 19 November 2019
(This article belongs to the Special Issue Channels and Transporters in Cells and Tissues)
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. View Full-Text
Keywords: demyelinating disease; NMOsd; AQPs; MOG; gene sequencing; immunohistochemistry demyelinating disease; NMOsd; AQPs; MOG; gene sequencing; immunohistochemistry
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MDPI and ACS Style

García-Miranda, P.; Morón-Civanto, F.J.; Martínez-Olivo, M.d.M.; Suárez-Luna, N.; Ramírez-Lorca, R.; Lebrato-Hernández, L.; Lamas-Pérez, R.; Navarro, G.; Abril-Jaramillo, J.; García-Sánchez, M.I.; Casado-Chocán, J.L.; Uclés-Sánchez, A.J.; Romera, M.; Echevarría, M.; Díaz-Sánchez, M. 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, 20, 5810. https://0-doi-org.brum.beds.ac.uk/10.3390/ijms20225810

AMA Style

García-Miranda P, Morón-Civanto FJ, Martínez-Olivo MdM, Suárez-Luna N, Ramírez-Lorca R, Lebrato-Hernández L, Lamas-Pérez R, Navarro G, Abril-Jaramillo J, García-Sánchez MI, Casado-Chocán JL, Uclés-Sánchez AJ, Romera M, Echevarría M, Díaz-Sánchez M. Predictive Value of Serum Antibodies and Point Mutations of AQP4, AQP1 and MOG in A Cohort of Spanish Patients with Neuromyelitis Optica Spectrum Disorders. International Journal of Molecular Sciences. 2019; 20(22):5810. https://0-doi-org.brum.beds.ac.uk/10.3390/ijms20225810

Chicago/Turabian Style

García-Miranda, Pablo, Francisco J. Morón-Civanto, Maria d.M. Martínez-Olivo, Nela Suárez-Luna, Reposo Ramírez-Lorca, Lucía Lebrato-Hernández, Raquel Lamas-Pérez, Guillermo Navarro, Javier Abril-Jaramillo, Maria I. García-Sánchez, José L. Casado-Chocán, Antonio J. Uclés-Sánchez, Mercedes Romera, Miriam Echevarría, and María Díaz-Sánchez. 2019. "Predictive Value of Serum Antibodies and Point Mutations of AQP4, AQP1 and MOG in A Cohort of Spanish Patients with Neuromyelitis Optica Spectrum Disorders" International Journal of Molecular Sciences 20, no. 22: 5810. https://0-doi-org.brum.beds.ac.uk/10.3390/ijms20225810

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