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Series GSE42986 Query DataSets for GSE42986
Status Public on Jul 01, 2013
Title Transcriptome profiling in human primary mitochondrial respiratory chain disease
Organism Homo sapiens
Experiment type Expression profiling by array
Summary Primary mitochondrial respiratory chain (RC) diseases are heterogeneous in etiology and manifestations but collectively impair cellular energy metabolism. To identify a common cellular response to RC disease, systems biology level transcriptome investigations were performed in human RC disease skeletal muscle and fibroblasts. Global transcriptional and post-transcriptional dysregulation in a tissue-specific fashion was identified across diverse RC complex and genetic etiologies. RC disease muscle was characterized by decreased transcription of cytosolic ribosomal proteins to reduce energy-intensive anabolic processes, increased transcription of mitochondrial ribosomal proteins, shortened 5'-UTRs to improve translational efficiency, and stabilization of 3'-UTRs containing AU-rich elements. These same modifications in a reversed direction typified RC disease fibroblasts. RC disease also dysregulated transcriptional networks related to basic nutrient-sensing signaling pathways, which collectively mediate many aspects of tissue-specific cellular responses to primary RC disease. These findings support the utility of a systems biology approach to improve mechanistic understanding of mitochondrial RC disease.
To identify a common cellular response to primary RC that might improve mechanistic understanding and lead to targeted therapies for human RC disease, we performed collective transcriptome profiling in skeletal muscle biopsy specimens and fibroblast cell lines (FCLs) of a diverse cohort of human mitochondrial disease subjects relative to controls. Systems biology investigations of common cellular responses to primary RC disease revealed a collective pattern of transcriptional, post-transcriptional and translational dysregulation occurring in a highly tissue-specific fashion.
 
Overall design Affymetrix Human Exon 1.0ST microarray analysis was performed on 29 skeletal muscle samples and Fibroblast cell lines from mitochondrial disease patients and age- and gender-matched controls.
 
Contributor(s) Falk MJ, Zhang Z
Citation(s) 23894440
Submission date Dec 18, 2012
Last update date Apr 25, 2014
Contact name Marni J Falk
E-mail(s) falkm@email.chop.edu
Phone 215-590-4564
Organization name CHOP
Department Pediatrics/ Human Genetics
Lab ARC 1002c
Street address 3615 Civic Center Blvd
City Philadelphia
State/province PA
ZIP/Postal code 19104
Country USA
 
Platforms (1)
GPL16240 [HuEx-1_0-st] Affymetrix Human Exon 1.0 ST Array [CDF: CHOP_1.0_ENTREZG]
Samples (53)
GSM1054461 Skeletal Muscle_Isopentane_Non-Mito Disease_MEF2C deletion
GSM1054462 Skeletal Muscle_FlashFrozen_Definite Mito Disease_m.12264C>T
GSM1054463 Skeletal Muscle_Isopentane_Definite Mito Disease_m.12264C>T
Relations
BioProject PRJNA184021

Download family Format
SOFT formatted family file(s) SOFTHelp
MINiML formatted family file(s) MINiMLHelp
Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE42986_RAW.tar 1.1 Gb (http)(custom) TAR (of CEL)
Processed data included within Sample table
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