A mitochondrial protein compendium elucidates complex I disease biology

Cell. 2008 Jul 11;134(1):112-23. doi: 10.1016/j.cell.2008.06.016.

Abstract

Mitochondria are complex organelles whose dysfunction underlies a broad spectrum of human diseases. Identifying all of the proteins resident in this organelle and understanding how they integrate into pathways represent major challenges in cell biology. Toward this goal, we performed mass spectrometry, GFP tagging, and machine learning to create a mitochondrial compendium of 1098 genes and their protein expression across 14 mouse tissues. We link poorly characterized proteins in this inventory to known mitochondrial pathways by virtue of shared evolutionary history. Using this approach, we predict 19 proteins to be important for the function of complex I (CI) of the electron transport chain. We validate a subset of these predictions using RNAi, including C8orf38, which we further show harbors an inherited mutation in a lethal, infantile CI deficiency. Our results have important implications for understanding CI function and pathogenesis and, more generally, illustrate how our compendium can serve as a foundation for systematic investigations of mitochondria.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Databases, Protein
  • Electron Transport Complex I / metabolism
  • Female
  • Green Fluorescent Proteins / genetics
  • Green Fluorescent Proteins / metabolism
  • Humans
  • Leigh Disease / genetics*
  • Male
  • Mass Spectrometry
  • Mice
  • Mice, Inbred C57BL
  • Microscopy, Fluorescence
  • Mitochondria / chemistry*
  • Mitochondria / genetics
  • Mitochondrial Proteins / analysis*
  • Mitochondrial Proteins / genetics
  • Mitochondrial Proteins / metabolism
  • Mutation
  • Organ Specificity
  • Proteome*

Substances

  • Mitochondrial Proteins
  • NDUFAF6 protein, human
  • Proteome
  • Green Fluorescent Proteins
  • Electron Transport Complex I