Transcriptome profiling in human primary mitochondrial respiratory chain disease

ABSTRACT: 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 element

ORGANISM(S): Homo sapiens

SUBMITTER: Marni Falk 

PROVIDER: E-GEOD-42986 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress