Jonckheere, An I., Huigsloot, Merei, Lammens, Martin ORCID: 0000-0002-3881-6692, Jansen, Jitske, van den Heuvel, Lambert P., Spiekerkoetter, Ute, von Kleist-Retzow, Juergen-Christoph, Forkink, Marleen, Koopman, Werner J. H., Szklarczyk, Radek, Huynen, Martijn A., Fransen, Jack A., Smeitink, Jan A. M. and Rodenburg, Richard J. T. (2011). Restoration of complex V deficiency caused by a novel deletion in the human TMEM70 gene normalizes mitochondrial morphology. Mitochondrion, 11 (6). S. 954 - 964. OXFORD: ELSEVIER SCI LTD. ISSN 1567-7249

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Abstract

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.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Jonckheere, An I.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Huigsloot, MereiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lammens, MartinUNSPECIFIEDorcid.org/0000-0002-3881-6692UNSPECIFIED
Jansen, JitskeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
van den Heuvel, Lambert P.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Spiekerkoetter, UteUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
von Kleist-Retzow, Juergen-ChristophUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Forkink, MarleenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Koopman, Werner J. H.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Szklarczyk, RadekUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Huynen, Martijn A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fransen, Jack A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Smeitink, Jan A. M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rodenburg, Richard J. T.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-486736
DOI: 10.1016/j.mito.2011.08.012
Journal or Publication Title: Mitochondrion
Volume: 11
Number: 6
Page Range: S. 954 - 964
Date: 2011
Publisher: ELSEVIER SCI LTD
Place of Publication: OXFORD
ISSN: 1567-7249
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
BROWN ADIPOSE-TISSUE; ATP SYNTHASE DEFICIENCY; 3-METHYLGLUTACONIC ACIDURIA; SACCHAROMYCES-CEREVISIAE; CRISTAE MORPHOLOGY; F1FO-ATP SYNTHASE; SKELETAL-MUSCLE; PROTEIN; MUTATION; MEMBRANEMultiple languages
Cell Biology; Genetics & HeredityMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/48673

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