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Transcription profiling of human fibroblast RNA from a patient with a mitochondrial oxidative phosphorylation complex I deficiency vs normal fibroblast RNA

ABSTRACT: Comparison of fibroblast RNA from a patient with a mitochondrial oxidative phosphorylation comnplex I deficiency against normal fibroblast RNA.

Note: this experiment submission is not fully MIAME compliant, due to the unavailability of oligonucleotide sequences on the A-MEXP-70 array ("Adelaide, H.sapiens, 19k array, version 1").

ORGANISM(S): Homo sapiens

DISEASE(S): mitochondrial complex I deficiency

SUBMITTER: Lee Parry

PROVIDER: E-MEXP-119 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency.

Kirby Denise M DM Salemi Renato R Sugiana Canny C Ohtake Akira A Parry Lee L Bell Katrina M KM Kirk Edwin P EP Boneh Avihu A Taylor Robert W RW Dahl Hans-Henrik M HH Ryan Michael T MT Thorburn David R DR

The Journal of clinical investigation 20040901 6

complex I deficiency, the most common respiratory chain defect, is genetically heterogeneous: mutations in 8 nuclear and 7 mitochondrial DNA genes encoding complex I subunits have been described. However, these genes account for disease in only a minority of complex I-deficient patients. We investigated whether there may be an unknown common gene by performing functional complementation analysis of cell lines from 10 unrelated patients. Two of the patients were found to have mitochondrial DNA mu ...[more]

PMID: 15372108

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Transcription profiling of human fibroblast RNA from patient with a mitochondrial oxidative phosphorylation complex I deficency vs normal fibroblast RNA

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