Patients affected by endemic pemphigus foliaceus in Colombia, South America exhibit autoantibodies to optic nerve sheath envelope cell junctions

Background: The majority of the patients affected by a new variant of endemic pemphigus foliaceus in El Bagre, Colombia (El Bagre EPF or pemphigus Abreu-Manu), have experienced vision problems; we have previously reported several ocular abnormalities. Methods: Here, we aimed to investigate reac...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Ana Maria Abreu-Velez, Wendy Gao, Michael S. Howard
Formato:	article
Lenguaje:	EN
Publicado:	Mattioli1885 2018
Materias:	endemic pemphigus in El Bagre optic nerve junction optic cell junction MYZAP ARVCF p0071 Dermatology RL1-803
Acceso en línea:	https://doaj.org/article/2b2419dc489f4138b6551002b4c1008e
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:2b2419dc489f4138b6551002b4c1008e
record_format	dspace
spelling	oai:doaj.org-article:2b2419dc489f4138b6551002b4c1008e2021-11-17T08:30:20ZPatients affected by endemic pemphigus foliaceus in Colombia, South America exhibit autoantibodies to optic nerve sheath envelope cell junctions2160-9381https://doaj.org/article/2b2419dc489f4138b6551002b4c1008e2018-01-01T00:00:00Zhttp://dpcj.org/index.php/dpc/article/view/395https://doaj.org/toc/2160-9381 Background: The majority of the patients affected by a new variant of endemic pemphigus foliaceus in El Bagre, Colombia (El Bagre EPF or pemphigus Abreu-Manu), have experienced vision problems; we have previously reported several ocular abnormalities. Methods: Here, we aimed to investigate reactivity to optic nerves in these patients. We utilized bovine, rat and mouse optic nerves, and performed immunofluorescence and confocal microscopy to test for optical nerve autoreactivity. We tested 45 patients affected by this disease and 45 controls from the endemic area matched by age, sex and work activity. Results: Overall, 37 of the 45 patient sera reacted to the optic nerve envelope that is composed of leptomeninges; the reactivity was polyclonal and present mostly at the cell junctions (P < 0.001). The immune response was directed against optic nerve sheath cell junctions and the vessels inside it, as well as other molecules inside the nerve. No control cases were positive. Of interest, all the patient autoantibodies co-localized with commercial antibodies to desmoplakins I–II, myocardium-enriched zonula occludens-1- associated protein (MYZAP), armadillo repeat gene deleted in velo-cardio-facial syndrome (ARVCF), and plakophilin-4 (p0071) from Progen Biotechnik (P < 0.001). Conclusion: We conclude that the majority of the patients affected by pemphigus Abreu-Manu have autoantibodies to optic nerve sheath envelope cell junctions. These antibodies also co-localize with armadillo repeat gene deleted in velo-cardio-facial syndrome, p0071 and desmoplakins I–II. The clinical significance of our findings remains unknown. Ana Maria Abreu-VelezWendy GaoMichael S. HowardMattioli1885articleendemic pemphigus in El Bagreoptic nerve junctionoptic cell junctionMYZAPARVCFp0071DermatologyRL1-803ENDermatology Practical & Conceptual, Vol 8, Iss 1 (2018)
institution	DOAJ
collection	DOAJ
language	EN
topic	endemic pemphigus in El Bagre optic nerve junction optic cell junction MYZAP ARVCF p0071 Dermatology RL1-803
spellingShingle	endemic pemphigus in El Bagre optic nerve junction optic cell junction MYZAP ARVCF p0071 Dermatology RL1-803 Ana Maria Abreu-Velez Wendy Gao Michael S. Howard Patients affected by endemic pemphigus foliaceus in Colombia, South America exhibit autoantibodies to optic nerve sheath envelope cell junctions
description	Background: The majority of the patients affected by a new variant of endemic pemphigus foliaceus in El Bagre, Colombia (El Bagre EPF or pemphigus Abreu-Manu), have experienced vision problems; we have previously reported several ocular abnormalities. Methods: Here, we aimed to investigate reactivity to optic nerves in these patients. We utilized bovine, rat and mouse optic nerves, and performed immunofluorescence and confocal microscopy to test for optical nerve autoreactivity. We tested 45 patients affected by this disease and 45 controls from the endemic area matched by age, sex and work activity. Results: Overall, 37 of the 45 patient sera reacted to the optic nerve envelope that is composed of leptomeninges; the reactivity was polyclonal and present mostly at the cell junctions (P < 0.001). The immune response was directed against optic nerve sheath cell junctions and the vessels inside it, as well as other molecules inside the nerve. No control cases were positive. Of interest, all the patient autoantibodies co-localized with commercial antibodies to desmoplakins I–II, myocardium-enriched zonula occludens-1- associated protein (MYZAP), armadillo repeat gene deleted in velo-cardio-facial syndrome (ARVCF), and plakophilin-4 (p0071) from Progen Biotechnik (P < 0.001). Conclusion: We conclude that the majority of the patients affected by pemphigus Abreu-Manu have autoantibodies to optic nerve sheath envelope cell junctions. These antibodies also co-localize with armadillo repeat gene deleted in velo-cardio-facial syndrome, p0071 and desmoplakins I–II. The clinical significance of our findings remains unknown.
format	article
author	Ana Maria Abreu-Velez Wendy Gao Michael S. Howard
author_facet	Ana Maria Abreu-Velez Wendy Gao Michael S. Howard
author_sort	Ana Maria Abreu-Velez
title	Patients affected by endemic pemphigus foliaceus in Colombia, South America exhibit autoantibodies to optic nerve sheath envelope cell junctions
title_short	Patients affected by endemic pemphigus foliaceus in Colombia, South America exhibit autoantibodies to optic nerve sheath envelope cell junctions
title_full	Patients affected by endemic pemphigus foliaceus in Colombia, South America exhibit autoantibodies to optic nerve sheath envelope cell junctions
title_fullStr	Patients affected by endemic pemphigus foliaceus in Colombia, South America exhibit autoantibodies to optic nerve sheath envelope cell junctions
title_full_unstemmed	Patients affected by endemic pemphigus foliaceus in Colombia, South America exhibit autoantibodies to optic nerve sheath envelope cell junctions
title_sort	patients affected by endemic pemphigus foliaceus in colombia, south america exhibit autoantibodies to optic nerve sheath envelope cell junctions
publisher	Mattioli1885
publishDate	2018
url	https://doaj.org/article/2b2419dc489f4138b6551002b4c1008e
work_keys_str_mv	AT anamariaabreuvelez patientsaffectedbyendemicpemphigusfoliaceusincolombiasouthamericaexhibitautoantibodiestoopticnervesheathenvelopecelljunctions AT wendygao patientsaffectedbyendemicpemphigusfoliaceusincolombiasouthamericaexhibitautoantibodiestoopticnervesheathenvelopecelljunctions AT michaelshoward patientsaffectedbyendemicpemphigusfoliaceusincolombiasouthamericaexhibitautoantibodiestoopticnervesheathenvelopecelljunctions
_version_	1718425725322657792

Patients affected by endemic pemphigus foliaceus in Colombia, South America exhibit autoantibodies to optic nerve sheath envelope cell junctions

Ejemplares similares