Journal
MITOCHONDRION
Volume 11, Issue 6, Pages 954-963Publisher
ELSEVIER SCI LTD
DOI: 10.1016/j.mito.2011.08.012
Keywords
Mitochondrial morphology; Complex V; TMEM70
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Funding
- Prinses Beatrix Fonds [OP-05-04]
- Senternovem [IGE05003]
- IGMD (Institute for Genetic and Metabolic Disease) of the Radboud University Nijmegen Medical Centre (RUNMC)
- NWO (Netherlands Organization for Scientific Research) [911-02-008]
- Netherlands Genomics Initiative
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We report a fragmented mitochondrial network and swollen and irregularly shaped mitochondria with partial to complete loss of the cristae in fibroblasts of a patient with a novel TMEM70 gene deletion, which could be completely restored by complementation of the TMEM70 genetic defect Comparative genomics analysis predicted the topology of TMEM70 in the inner mitochondrial membrane, which could be confirmed by immunogold labeling experiments, and showed that the TMEM70 gene is not restricted to higher multicellular eukaryotes. This study demonstrates that the role of complex V in mitochondrial cristae morphology applies to human mitochondrial disease pathology. (C) 2011 Elsevier B.V. and Mitochondria Research Society. All rights reserved.
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