Impairment of visual function and retinal ER stress activation in Wfs1-deficient mice.

Wolfram syndrome is an early onset genetic disease (1/180,000) featuring diabetes mellitus and optic neuropathy, associated to mutations in the WFS1 gene. Wfs1-/- mouse model shows pancreatic beta cell atrophy, but its visual performance has not been investigated, prompting us to study its visual fu...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Delphine Bonnet Wersinger, Nesrine Benkafadar, Jolanta Jagodzinska, Christian Hamel, Yukio Tanizawa, Guy Lenaers, Cécile Delettre
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2014
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/7e43f6f4b6964110873391b023c9efbd
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:7e43f6f4b6964110873391b023c9efbd
record_format	dspace
spelling	oai:doaj.org-article:7e43f6f4b6964110873391b023c9efbd2021-11-18T08:19:38ZImpairment of visual function and retinal ER stress activation in Wfs1-deficient mice.1932-620310.1371/journal.pone.0097222https://doaj.org/article/7e43f6f4b6964110873391b023c9efbd2014-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/24823368/?tool=EBIhttps://doaj.org/toc/1932-6203Wolfram syndrome is an early onset genetic disease (1/180,000) featuring diabetes mellitus and optic neuropathy, associated to mutations in the WFS1 gene. Wfs1-/- mouse model shows pancreatic beta cell atrophy, but its visual performance has not been investigated, prompting us to study its visual function and histopathology of the retina and optic nerve. Electroretinogram and visual evoked potentials (VEPs) were performed in Wfs1-/- and Wfs1+/+ mice at 3, 6, 9 and 12 months of age. Fundi were pictured with Micron III apparatus. Retinal ganglion cell (RGC) abundance was determined from Brn3a immunolabeling of retinal sections. RGC axonal loss was quantified by electron microscopy in transversal optic nerve sections. Endoplasmic reticulum stress was assessed using immunoglobulin binding protein (BiP), protein disulfide isomerase (PDI) and inositol-requiring enzyme 1 alpha (Ire1α) markers. Electroretinograms amplitudes were slightly reduced and latencies increased with time in Wfs1-/- mice. Similarly, VEPs showed decreased N+P amplitudes and increased N-wave latency. Analysis of unfolded protein response signaling revealed an activation of endoplasmic reticulum stress in Wfs1-/- mutant mouse retinas. Altogether, progressive VEPs alterations with minimal neuronal cell loss suggest functional alteration of the action potential in the Wfs1-/- optic pathways.Delphine Bonnet WersingerNesrine BenkafadarJolanta JagodzinskaChristian HamelYukio TanizawaGuy LenaersCécile DelettrePublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 9, Iss 5, p e97222 (2014)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Delphine Bonnet Wersinger Nesrine Benkafadar Jolanta Jagodzinska Christian Hamel Yukio Tanizawa Guy Lenaers Cécile Delettre Impairment of visual function and retinal ER stress activation in Wfs1-deficient mice.
description	Wolfram syndrome is an early onset genetic disease (1/180,000) featuring diabetes mellitus and optic neuropathy, associated to mutations in the WFS1 gene. Wfs1-/- mouse model shows pancreatic beta cell atrophy, but its visual performance has not been investigated, prompting us to study its visual function and histopathology of the retina and optic nerve. Electroretinogram and visual evoked potentials (VEPs) were performed in Wfs1-/- and Wfs1+/+ mice at 3, 6, 9 and 12 months of age. Fundi were pictured with Micron III apparatus. Retinal ganglion cell (RGC) abundance was determined from Brn3a immunolabeling of retinal sections. RGC axonal loss was quantified by electron microscopy in transversal optic nerve sections. Endoplasmic reticulum stress was assessed using immunoglobulin binding protein (BiP), protein disulfide isomerase (PDI) and inositol-requiring enzyme 1 alpha (Ire1α) markers. Electroretinograms amplitudes were slightly reduced and latencies increased with time in Wfs1-/- mice. Similarly, VEPs showed decreased N+P amplitudes and increased N-wave latency. Analysis of unfolded protein response signaling revealed an activation of endoplasmic reticulum stress in Wfs1-/- mutant mouse retinas. Altogether, progressive VEPs alterations with minimal neuronal cell loss suggest functional alteration of the action potential in the Wfs1-/- optic pathways.
format	article
author	Delphine Bonnet Wersinger Nesrine Benkafadar Jolanta Jagodzinska Christian Hamel Yukio Tanizawa Guy Lenaers Cécile Delettre
author_facet	Delphine Bonnet Wersinger Nesrine Benkafadar Jolanta Jagodzinska Christian Hamel Yukio Tanizawa Guy Lenaers Cécile Delettre
author_sort	Delphine Bonnet Wersinger
title	Impairment of visual function and retinal ER stress activation in Wfs1-deficient mice.
title_short	Impairment of visual function and retinal ER stress activation in Wfs1-deficient mice.
title_full	Impairment of visual function and retinal ER stress activation in Wfs1-deficient mice.
title_fullStr	Impairment of visual function and retinal ER stress activation in Wfs1-deficient mice.
title_full_unstemmed	Impairment of visual function and retinal ER stress activation in Wfs1-deficient mice.
title_sort	impairment of visual function and retinal er stress activation in wfs1-deficient mice.
publisher	Public Library of Science (PLoS)
publishDate	2014
url	https://doaj.org/article/7e43f6f4b6964110873391b023c9efbd
work_keys_str_mv	AT delphinebonnetwersinger impairmentofvisualfunctionandretinalerstressactivationinwfs1deficientmice AT nesrinebenkafadar impairmentofvisualfunctionandretinalerstressactivationinwfs1deficientmice AT jolantajagodzinska impairmentofvisualfunctionandretinalerstressactivationinwfs1deficientmice AT christianhamel impairmentofvisualfunctionandretinalerstressactivationinwfs1deficientmice AT yukiotanizawa impairmentofvisualfunctionandretinalerstressactivationinwfs1deficientmice AT guylenaers impairmentofvisualfunctionandretinalerstressactivationinwfs1deficientmice AT ceciledelettre impairmentofvisualfunctionandretinalerstressactivationinwfs1deficientmice
_version_	1718421933378240512

Impairment of visual function and retinal ER stress activation in Wfs1-deficient mice.

Ejemplares similares