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dc.contributor.author
Larimore, Jennifer
dc.contributor.author
Ryder, Pearl V.
dc.contributor.author
Kim, Kun Yong
dc.contributor.author
Ambrose, L. Alex
dc.contributor.author
Chapleau, Christopher
dc.contributor.author
Calfa, Gaston Diego
dc.contributor.author
Gross, Christina
dc.contributor.author
Bassell, Gary J.
dc.contributor.author
Pozzo Miller, Lucas
dc.contributor.author
Smith, Yoland
dc.contributor.author
Talbot, Konrad
dc.contributor.author
Park, In Hyun
dc.contributor.author
Faundez, Victor
dc.date.available
2015-04-24T19:05:33Z
dc.date.issued
2013-06-04
dc.identifier.citation
Larimore, Jennifer; Ryder, Pearl V.; Kim, Kun Yong; Ambrose, L. Alex; Chapleau, Christopher; et al.; MeCP2 Regulates the Synaptic Expression of a Dysbindin-BLOC-1 Network Component in Mouse Brain and Human Induced Pluripotent Stem Cell-Derived Neurons; Public Library of Science; Plos One; 8; 6; 4-6-2013; 1-6; e65069
dc.identifier.issn
1932-6203
dc.identifier.uri
http://hdl.handle.net/11336/476
dc.description.abstract
Clinical, epidemiological, and genetic evidence suggest overlapping pathogenic mechanisms between autism spectrum disorder (ASD) and schizophrenia. We tested this hypothesis by asking if mutations in the ASD gene MECP2 which cause Rett syndrome affect the expression of genes encoding the schizophrenia risk factor dysbindin, a subunit of the biogenesis of lysosome-related organelles complex-1 (BLOC-1), and associated interacting proteins. We measured mRNA and protein levels of key components of a dysbindin interaction network by, quantitative real time PCR and quantitative immunohistochemistry in hippocampal samples of wild-type and Mecp2 mutant mice. In addition, we confirmed results by performing immunohistochemistry of normal human hippocampus and quantitative qRT-PCR of human inducible pluripotent stem cells (iPSCs)-derived human neurons from Rett syndrome patients. We defined the distribution of the BLOC-1 subunit pallidin in human and mouse hippocampus and contrasted this distribution with that of symptomatic Mecp2 mutant mice. Neurons from mutant mice and Rett syndrome patients displayed selectively reduced levels of pallidin transcript. Pallidin immunoreactivity decreased in the hippocampus of symptomatic Mecp2 mutant mice, a feature most prominent at asymmetric synapses as determined by immunoelectron microcopy. Pallidin immunoreactivity decreased concomitantly with reduced BDNF content in the hippocampus of Mecp2 mice. Similarly, BDNF content was reduced in the hippocampus of BLOC-1 deficient mice suggesting that genetic defects in BLOC-1 are upstream of the BDNF phenotype in Mecp2 deficient mice. Our results demonstrate that the ASD-related gene Mecp2 regulates the expression of components belonging to the dysbindin interactome and these molecular differences may contribute to synaptic phenotypes that characterize Mecp2 deficiencies and ASD.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
Public Library of Science
dc.rights
info:eu-repo/semantics/openAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.subject
Mecp2
dc.subject
Rett Syndrome
dc.subject
Synapsis
dc.subject
Bdnf
dc.subject.classification
Inmunología
dc.subject.classification
Medicina Básica
dc.subject.classification
CIENCIAS MÉDICAS Y DE LA SALUD
dc.title
MeCP2 Regulates the Synaptic Expression of a Dysbindin-BLOC-1 Network Component in Mouse Brain and Human Induced Pluripotent Stem Cell-Derived Neurons
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2016-03-30 10:35:44.97925-03
dc.journal.volume
8
dc.journal.number
6
dc.journal.pagination
1-6; e65069
dc.journal.pais
Estados Unidos
dc.journal.ciudad
San Francisco
dc.description.fil
Fil: Larimore, Jennifer. Agnes Scott College; Estados Unidos
dc.description.fil
Fil: Ryder, Pearl V.. University of Emory; Estados Unidos
dc.description.fil
Fil: Kim, Kun Yong. University of Yale. School of Medicine; Estados Unidos
dc.description.fil
Fil: Ambrose, L. Alex. Agnes Scott College; Estados Unidos
dc.description.fil
Fil: Chapleau, Christopher. University Of Alabama; Estados Unidos
dc.description.fil
Fil: Calfa, Gaston Diego. University Of Alabama; Estados Unidos. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
dc.description.fil
Fil: Gross, Christina. University of Emory; Estados Unidos
dc.description.fil
Fil: Bassell, Gary J.. University of Emory; Estados Unidos
dc.description.fil
Fil: Pozzo Miller, Lucas. University Of Alabama; Estados Unidos
dc.description.fil
Fil: Smith, Yoland. University of Emory; Estados Unidos
dc.description.fil
Fil: Talbot, Konrad. The Pennsylvania State University; Estados Unidos
dc.description.fil
Fil: Park, In Hyun. University of Yale. School of Medicine; Estados Unidos
dc.description.fil
Fil: Faundez, Victor. University of Emory; Estados Unidos
dc.journal.title
Plos One
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1371/journal.pone.0065069
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0065069


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