Glucocerebrosidase Mrna Is Diminished In Brain Of Lewy Body Diseases And Changes With Disease Progression In Blood

Parkinson disease (PD) and dementia with Lewy bodies (DLB) are Lewy body diseases characterized by abnormal alpha-synuclein deposits and overlapping pathological features in the brain. Several studies have shown that glucocerebrosidase (GBA) deficiency is involved in the development of LB diseases....

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Authors: Pérez Roca, Laia, Adame Castillo, Cristina, Campdelacreu i Fumadó, Jaume, Ispierto, Lourdes, Vilas Rolán, Dolores, Reñé Ramírez, Ramon, Alvarez, Ramiro, Gascón-Bayarri, Jordi, Serrano Muñoz, Maria A., Ariza, Aurelio, Beyer, Katrin
Format: article
Status:Published version
Publication Date:2018
Country:España
Institution:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repository:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:2445/123985
Online Access:https://hdl.handle.net/2445/123985
Access Level:Open access
Keyword:Malaltia de Parkinson
Demència amb cossos de Lewy
Micro RNAs
Parkinson's disease
Lewy body dementia
MicroRNAs
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spelling Glucocerebrosidase Mrna Is Diminished In Brain Of Lewy Body Diseases And Changes With Disease Progression In BloodPérez Roca, LaiaAdame Castillo, CristinaCampdelacreu i Fumadó, JaumeIspierto, LourdesVilas Rolán, DoloresReñé Ramírez, RamonAlvarez, RamiroGascón-Bayarri, JordiSerrano Muñoz, Maria A.Ariza, AurelioBeyer, KatrinMalaltia de ParkinsonDemència amb cossos de LewyMicro RNAsParkinson's diseaseLewy body dementiaMicroRNAsParkinson disease (PD) and dementia with Lewy bodies (DLB) are Lewy body diseases characterized by abnormal alpha-synuclein deposits and overlapping pathological features in the brain. Several studies have shown that glucocerebrosidase (GBA) deficiency is involved in the development of LB diseases. Here, we aimed to find out if this deficiency starts at the transcriptional level, also involves alternative splicing, and if GBA expression changes in brain are also detectable in blood of patients with LB diseases. The expression of three GBA transcript variants (GBAtv1, GBAtv2 and GBAtv5) was analyzed in samples from 20 DLB, 25 PD and 17 control brains and in blood of 20 DLB, 26 PD patients and 17 unaffected individuals. Relative mRNA expression was determined by real-time PCR. Expression changes were evaluated by the Delta Delta Ct method. In brain, specific expression profiles were identified in the temporal cortex of DLB and in the caudate nucleus of PD. In blood, significant GBA mRNA diminution was found in both DLB and PD patients. Early PD and early-onset DLB patients showed lowest GBA levels which were normal in PD patients with advanced disease and DLB patients who developed disease after 70 years of age. In conclusion, disease group specific GBA expression profiles were found in mostly affected areas of LBD. In blood, GBA expression was diminished in LB diseases, especially in patients with early onset DLB and in patients with early PD. Age of disease onset exerts an opposite effect on GBA expression in DLB and PD.International Society Aging & Disease2018201820182018info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersion12 p.application/pdfapplication/pdfhttps://hdl.handle.net/2445/123985Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))reponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)InglésReproducció del document publicat a: https://doi.org/10.14336/AD.2017.0505Aging and Disease, 2018, vol. 9, num. 2, p. 208-219https://doi.org/10.14336/AD.2017.0505cc-by (c) Pérez Roca et al., 2018http://creativecommons.org/licenses/by/3.0/es/info:eu-repo/semantics/openAccessoai:recercat.cat:2445/1239852026-05-29T05:05:01Z
dc.title.none.fl_str_mv Glucocerebrosidase Mrna Is Diminished In Brain Of Lewy Body Diseases And Changes With Disease Progression In Blood
title Glucocerebrosidase Mrna Is Diminished In Brain Of Lewy Body Diseases And Changes With Disease Progression In Blood
spellingShingle Glucocerebrosidase Mrna Is Diminished In Brain Of Lewy Body Diseases And Changes With Disease Progression In Blood
Pérez Roca, Laia
Malaltia de Parkinson
Demència amb cossos de Lewy
Micro RNAs
Parkinson's disease
Lewy body dementia
MicroRNAs
title_short Glucocerebrosidase Mrna Is Diminished In Brain Of Lewy Body Diseases And Changes With Disease Progression In Blood
title_full Glucocerebrosidase Mrna Is Diminished In Brain Of Lewy Body Diseases And Changes With Disease Progression In Blood
title_fullStr Glucocerebrosidase Mrna Is Diminished In Brain Of Lewy Body Diseases And Changes With Disease Progression In Blood
title_full_unstemmed Glucocerebrosidase Mrna Is Diminished In Brain Of Lewy Body Diseases And Changes With Disease Progression In Blood
title_sort Glucocerebrosidase Mrna Is Diminished In Brain Of Lewy Body Diseases And Changes With Disease Progression In Blood
dc.creator.none.fl_str_mv Pérez Roca, Laia
Adame Castillo, Cristina
Campdelacreu i Fumadó, Jaume
Ispierto, Lourdes
Vilas Rolán, Dolores
Reñé Ramírez, Ramon
Alvarez, Ramiro
Gascón-Bayarri, Jordi
Serrano Muñoz, Maria A.
Ariza, Aurelio
Beyer, Katrin
author Pérez Roca, Laia
author_facet Pérez Roca, Laia
Adame Castillo, Cristina
Campdelacreu i Fumadó, Jaume
Ispierto, Lourdes
Vilas Rolán, Dolores
Reñé Ramírez, Ramon
Alvarez, Ramiro
Gascón-Bayarri, Jordi
Serrano Muñoz, Maria A.
Ariza, Aurelio
Beyer, Katrin
author_role author
author2 Adame Castillo, Cristina
Campdelacreu i Fumadó, Jaume
Ispierto, Lourdes
Vilas Rolán, Dolores
Reñé Ramírez, Ramon
Alvarez, Ramiro
Gascón-Bayarri, Jordi
Serrano Muñoz, Maria A.
Ariza, Aurelio
Beyer, Katrin
author2_role author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Malaltia de Parkinson
Demència amb cossos de Lewy
Micro RNAs
Parkinson's disease
Lewy body dementia
MicroRNAs
topic Malaltia de Parkinson
Demència amb cossos de Lewy
Micro RNAs
Parkinson's disease
Lewy body dementia
MicroRNAs
description Parkinson disease (PD) and dementia with Lewy bodies (DLB) are Lewy body diseases characterized by abnormal alpha-synuclein deposits and overlapping pathological features in the brain. Several studies have shown that glucocerebrosidase (GBA) deficiency is involved in the development of LB diseases. Here, we aimed to find out if this deficiency starts at the transcriptional level, also involves alternative splicing, and if GBA expression changes in brain are also detectable in blood of patients with LB diseases. The expression of three GBA transcript variants (GBAtv1, GBAtv2 and GBAtv5) was analyzed in samples from 20 DLB, 25 PD and 17 control brains and in blood of 20 DLB, 26 PD patients and 17 unaffected individuals. Relative mRNA expression was determined by real-time PCR. Expression changes were evaluated by the Delta Delta Ct method. In brain, specific expression profiles were identified in the temporal cortex of DLB and in the caudate nucleus of PD. In blood, significant GBA mRNA diminution was found in both DLB and PD patients. Early PD and early-onset DLB patients showed lowest GBA levels which were normal in PD patients with advanced disease and DLB patients who developed disease after 70 years of age. In conclusion, disease group specific GBA expression profiles were found in mostly affected areas of LBD. In blood, GBA expression was diminished in LB diseases, especially in patients with early onset DLB and in patients with early PD. Age of disease onset exerts an opposite effect on GBA expression in DLB and PD.
publishDate 2018
dc.date.none.fl_str_mv 2018
2018
2018
2018
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/2445/123985
url https://hdl.handle.net/2445/123985
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Reproducció del document publicat a: https://doi.org/10.14336/AD.2017.0505
Aging and Disease, 2018, vol. 9, num. 2, p. 208-219
https://doi.org/10.14336/AD.2017.0505
dc.rights.none.fl_str_mv cc-by (c) Pérez Roca et al., 2018
http://creativecommons.org/licenses/by/3.0/es/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv cc-by (c) Pérez Roca et al., 2018
http://creativecommons.org/licenses/by/3.0/es/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 12 p.
application/pdf
application/pdf
dc.publisher.none.fl_str_mv International Society Aging & Disease
publisher.none.fl_str_mv International Society Aging & Disease
dc.source.none.fl_str_mv Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
reponame:Recercat. Dipósit de la Recerca de Catalunya
instname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
instname_str Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
reponame_str Recercat. Dipósit de la Recerca de Catalunya
collection Recercat. Dipósit de la Recerca de Catalunya
repository.name.fl_str_mv
repository.mail.fl_str_mv
_version_ 1869425156704698368
score 15,812429

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