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

An I. Jonckheere, Merei Huigsloot, Martin Lammens, Jitske Jansen, Lambert P. van den Heuvel, Ute Spiekerkoetter, Jürgen Christoph von Kleist-Retzow, Marleen Forkink, Werner J.H. Koopman, Radek Szklarczyk, Martijn A. Huynen, Jack A. Fransen, Jan A.M. Smeitink, Richard J.T. Rodenburg*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

36 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)954-963
Number of pages10
JournalMitochondrion
Volume11
Issue number6
DOIs
Publication statusPublished - Nov 2011
Externally publishedYes

Keywords

  • Complex V
  • Mitochondrial morphology
  • TMEM70

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