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dc.contributor.authorLeinonen Henri
dc.contributor.authorKeksa-Goldsteine Velta
dc.contributor.authorRagauskas Symantas
dc.contributor.authorKohlmann Philip
dc.contributor.authorSignh Yajuvinder
dc.contributor.authorSavchencko Ekaterina
dc.contributor.authorPuranen Jooseppi
dc.contributor.authorMalm Tarja
dc.contributor.authorKalesnykas Giedrius
dc.contributor.authorKoistinaho Jari
dc.contributor.authorTanila Heikki
dc.contributor.authorKanninen Katja M
dc.date.accessioned2017-11-20T14:08:33Z
dc.date.available2017-11-20T14:08:33Z
dc.date.issued2017
dc.identifier.urihttps://erepo.uef.fi/handle/123456789/4931
dc.description.abstractThe Finnish variant of late infantile neuronal ceroid lipofuscinosis (CLN5 disease) belongs to a family of neuronal ceroid lipofuscinosis (NCLs) diseases. Vision loss is among the first clinical signs in childhood forms of NCLs. Mutations in CLN5 underlie CLN5 disease. The aim of this study was to characterize how the lack of normal functionality of the CLN5 protein affects the mouse retina. Scotopic electroretinography (ERG) showed a diminished c-wave amplitude in the CLN5 deficient mice already at 1 month of age, indicative of pathological events in the retinal pigmented epithelium. A- and b-waves showed progressive impairment later from 2 and 3 months of age onwards, respectively. Structural and immunohistochemical (IHC) analyses showed preferential damage of photoreceptors, accumulation of autofluorescent storage material, apoptosis of photoreceptors, and strong inflammation in the CLN5 deficient mice retinas. Increased levels of autophagy-associated proteins Beclin-1 and P62, and increased LC3b-II/LC3b-I ratio, were detected by Western blotting from whole retinal extracts. Photopic ERG, visual evoked potentials, IHC and cell counting indicated relatively long surviving cone photoreceptors compared to rods. In conclusion, CLN5 deficient mice develop early vision loss that reflects the condition reported in clinical childhood forms of NCLs. The vision loss in CLN5 deficient mice is primarily caused by photoreceptor degeneration.en
dc.language.isoENen
dc.publisherSpringer Natureen
dc.relation.ispartofseriesScientific Reportsen
dc.relation.urihttp://dx.doi.org/10.1038/s41598-017-01716-1en
dc.rightsCC BY http://creativecommons.org/licenses/by/4.0/en
dc.subjectNeurodegenerationen
dc.subjectRetinaen
dc.titleRetinal Degeneration In A Mouse Model Of CLN5 Disease Is Associated With Compromised Autophagyen
dc.description.versionpublished versionen
dc.contributor.departmentA.I. Virtanen -instituuttien
dc.contributor.departmentA.I. Virtanen -instituutti / Neurobiologiaen
uef.solecris.id48006441en
dc.type.publicationinfo:eu-repo/semantics/articleen
dc.rights.accessrights© Authorsen
dc.relation.doi10.1038/s41598-017-01716-1en
dc.description.reviewstatuspeerRevieweden
dc.relation.articlenumber1597en
dc.relation.issn2045-2322en
dc.relation.volume7en
dc.rights.accesslevelopenAccessen
dc.type.okmA1en
dc.type.versioninfo:eu-repo/semantics/publishedVersionen


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