Metabolomics,Unknown,Transcriptomics,Genomics,Proteomics

Dataset Information

Gene expression analysis in 13 patients with mitochondrial ATP synthase deficiency (MitoArray)

ABSTRACT: Defects of mitochondrial functions lead in humans to vast array of usually multisystemic pathologies and several hundreds of diseases resulting from various defects of mitochondria biogenesis and maintenance, defects of respiratory chain complexes (OXPHOS) or defects of individual mitochondrial proteins are known. To strengthen diagnostic work-up for various mitopathies we designed focused oligonucleotide microarray which allows expression profiling of 1632 human mitochondria related genes and tested its performance in analysis of genetically heterogeneous group of 13 patients with biochemically proven ATP synthase deficiency. Gene expression data analysis allowed classification of patients into several distinct groups, provided information on subgroup and patient specific gene expression profiles, defined candidate disease causing genes and gave basic information on pathogenic mechanisms associated with ATP synthase deficiency. Two-condition experiment, patients vs. controls cells. Biological replicates: 9 control, 13 patients, independently grown and harvested. Two replicates per array.

ORGANISM(S): Homo sapiens

SUBMITTER: Stanislav Kmoch

PROVIDER: E-GEOD-8648 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Publications

Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F1Fo ATP synthase deficiency.

Cízková Alena A Stránecký Viktor V Ivánek Robert R Hartmannová Hana H Nosková Lenka L Piherová Lenka L Tesarová Markéta M Hansíková Hana H Honzík Tomás T Zeman Jirí J Divina Petr P Potocká Andrea A Paul Jan J Sperl Wolfgang W Mayr Johannes A JA Seneca Sara S Houstĕk Josef J Kmoch Stanislav S

BMC genomics 20080125

<h4>Background</h4>To strengthen research and differential diagnostics of mitochondrial disorders, we constructed and validated an oligonucleotide microarray (h-MitoArray) allowing expression analysis of 1632 human genes involved in mitochondrial biology, cell cycle regulation, signal transduction and apoptosis. Using h-MitoArray we analyzed gene expression profiles in 9 control and 13 fibroblast cell lines from patients with F1Fo ATP synthase deficiency consisting of 2 patients with mt9205delta ...[more]

PMID: 18221507

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Dataset Information

Gene expression analysis in 13 patients with mitochondrial ATP synthase deficiency (MitoArray)

Publications

Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F1Fo ATP synthase deficiency.

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