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Elsevier, Mitochondrion, 6(11), p. 954-963, 2011

DOI: 10.1016/j.mito.2011.08.012

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Restoration of complex V deficiency caused by a novel deletion in the human TMEM70 gene normalizes mitochondrial morphology

Journal article published in 2011 by An I. Jonckheere, Merei Huigsloot, Martin M. Y. Lammens, Jitske Jansen, Lambert P. van den Heuvel, L. P. W. J. van den Heuvel, Ute Spiekerkoetter, Jürgen-Christoph von Kleist-Retzow, J. C. von Kleist-Retzow, Marleen Forkink, Werner J. H. Koopman, Radek J. Szklarczyk, Martijn A. Huynen, Jack A. Fransen, Jan A. M. Smeitink and other authors.
This paper was not found in any repository, but could be made available legally by the author.
This paper was not found in any repository, but could be made available legally by the author.

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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 multi-cellular eukaryotes. This study demonstrates that the role of complex V in mitochondrial cristae morphology applies to human mitochondrial disease pathology.