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

Mitochondrion. 2011 Nov;11(6):954-63. doi: 10.1016/j.mito.2011.08.012. Epub 2011 Sep 14.


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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenosine Triphosphatases / deficiency*
  • Carrier Proteins
  • Cells, Cultured
  • Fibroblasts / ultrastructure
  • Genetic Complementation Test
  • Humans
  • Infant, Newborn
  • Male
  • Membrane Proteins / deficiency*
  • Membrane Proteins / genetics*
  • Mitochondria / ultrastructure*
  • Mitochondrial Proteins / genetics*
  • Mitochondrial Proton-Translocating ATPases
  • Sequence Deletion*


  • Carrier Proteins
  • Membrane Proteins
  • Mitochondrial Proteins
  • TMEM70 protein, human
  • Adenosine Triphosphatases
  • Mitochondrial Proton-Translocating ATPases
  • oligomycin sensitivity-conferring protein