Genes Related to Mitochondrial Functions, Protein Degradation, and Chromatin Folding Are Differentially Expressed in Lymphomonocytes of Rett Syndrome Patients
Joint Authors
Leoni, Guido
Cervellati, Franco
Hayek, Joussef
Pecorelli, Alessandra
Leoncini, Silvia
Cortelazzo, Alessio
Canali, Raffaella
Signorini, Cinzia
Ciccoli, Lucia
De Felice, Claudio
Giuseppe, Valacchi
Source
Issue
Vol. 2013, Issue 2013 (31 Dec. 2013), pp.1-18, 18 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2013-12-12
Country of Publication
Egypt
No. of Pages
18
Main Subjects
Abstract EN
Rett syndrome (RTT) is mainly caused by mutations in the X-linked methyl-CpG binding protein (MeCP2) gene.
By binding to methylated promoters on CpG islands, MeCP2 protein is able to modulate several genes and important cellular pathways.
Therefore, mutations in MeCP2 can seriously affect the cellular phenotype.
Today, the pathways that MeCP2 mutations are able to affect in RTT are not clear yet.
The aim of our study was to investigate the gene expression profiles in peripheral blood lymphomonocytes (PBMC) isolated from RTT patients to try to evidence new genes and new pathways that are involved in RTT pathophysiology.
LIMMA (Linear Models for MicroArray) and SAM (Significance Analysis of Microarrays) analyses on microarray data from 12 RTT patients and 7 control subjects identified 482 genes modulated in RTT, of which 430 were upregulated and 52 were downregulated.
Functional clustering of a total of 146 genes in RTT identified key biological pathways related to mitochondrial function and organization, cellular ubiquitination and proteosome degradation, RNA processing, and chromatin folding.
Our microarray data reveal an overexpression of genes involved in ATP synthesis suggesting altered energy requirement that parallels with increased activities of protein degradation.
In conclusion, these findings suggest that mitochondrial-ATP-proteasome functions are likely to be involved in RTT clinical features.
American Psychological Association (APA)
Pecorelli, Alessandra& Leoni, Guido& Cervellati, Franco& Canali, Raffaella& Signorini, Cinzia& Leoncini, Silvia…[et al.]. 2013. Genes Related to Mitochondrial Functions, Protein Degradation, and Chromatin Folding Are Differentially Expressed in Lymphomonocytes of Rett Syndrome Patients. Mediators of Inflammation،Vol. 2013, no. 2013, pp.1-18.
https://search.emarefa.net/detail/BIM-448681
Modern Language Association (MLA)
Pecorelli, Alessandra…[et al.]. Genes Related to Mitochondrial Functions, Protein Degradation, and Chromatin Folding Are Differentially Expressed in Lymphomonocytes of Rett Syndrome Patients. Mediators of Inflammation No. 2013 (2013), pp.1-18.
https://search.emarefa.net/detail/BIM-448681
American Medical Association (AMA)
Pecorelli, Alessandra& Leoni, Guido& Cervellati, Franco& Canali, Raffaella& Signorini, Cinzia& Leoncini, Silvia…[et al.]. Genes Related to Mitochondrial Functions, Protein Degradation, and Chromatin Folding Are Differentially Expressed in Lymphomonocytes of Rett Syndrome Patients. Mediators of Inflammation. 2013. Vol. 2013, no. 2013, pp.1-18.
https://search.emarefa.net/detail/BIM-448681
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-448681