Article Text

Findings that shed new light on the possible pathogenesis of a disease or an adverse effect
A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy
  1. An I Jonckheere1,
  2. Marije Hogeveen1,
  3. Leo Nijtmans1,
  4. Mariel van den Brand1,
  5. Antoon Janssen1,
  6. Heleen Diepstra1,
  7. Frans van den Brandt1,
  8. Bert van den Heuvel1,
  9. Frans Hol1,
  10. Tom Hofste1,
  11. Livia Kapusta1,
  12. U Dillmann2,
  13. M Shamdeen2,
  14. J Smeitink1,
  15. J Smeitink1,
  16. Richard Rodenburg1
  1. 1
    Geert Grooteplein 10 PO Box 9101, 6500 HB Nijmegen, Netherlands
  2. 2
    Saarland University, Saarbrucken, 66123, Germany
  1. j.smeitink{at}


To identify the biochemical and molecular genetic defect in a 16-year-old patient presenting with apical hypertrophic cardiomyopathy and neuropathy suspected for a mitochondrial disorder.

Measurement of the mitochondrial energy-generating system (MEGS) capacity in muscle and enzyme analysis in muscle and fibroblasts were performed. Relevant parts of the mitochondrial DNA were analysed by sequencing.

A homoplasmic nonsense mutation m.8529G→A (p.Trp55X) was found in the mitochondrial ATP8 gene in the patient’s fibroblasts and muscle tissue. Reduced complex V activity was measured in the patient’s fibroblasts and muscle tissue, and was confirmed in cybrid clones containing patient-derived mitochondrial DNA

We describe the first pathogenic mutation in the mitochondrial ATP8 gene, resulting in an improper assembly and reduced activity of the complex V holoenzyme.

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  • Competing interests: none.

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