Leigh syndrome in individuals bearing m.9185T>C MTATP6 variant. Is hyperventilation a factor which starts its development?

Metab Brain Dis. 2018 Feb;33(1):191-199. doi: 10.1007/s11011-017-0122-1. Epub 2017 Nov 7.


Leigh syndrome (LS), subacute necrotizing encephalomyelopathy is caused by various genetic defects, including m.9185T>C MTATP6 variant. Mechanism of LS development remains unknown. We report on the acid-base status of three patients with m.9185T>C related LS. At the onset, it showed respiratory alkalosis, reflecting excessive respiration effort (hyperventilation with low pCO2). In patient 1, the deterioration occurred in temporal relation to passive oxygen therapy. To the contrary, on the recovery, she demonstrated a relatively low respiratory drive, suggesting that a "hypoventilation" might be beneficial for m.9185T>C carriers. As long as circumstances of the development of LS have not been fully explained, we recommend to counteract hyperventilation and carefully dose oxygen in patients with m.9185T>C related LS.

Keywords: Hypocapnia; Leigh syndrome; MTATP6; Oxygen therapy; Respiratory alkalosis; m.9185T>C variant.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Alkalosis, Respiratory / genetics
  • Child
  • Child, Preschool
  • Humans
  • Hyperventilation / diagnosis
  • Hyperventilation / genetics*
  • Leigh Disease / diagnosis
  • Leigh Disease / genetics*
  • Mitochondrial Proton-Translocating ATPases / genetics*
  • Mutation / genetics*


  • MT-ATP6 protein, human
  • Mitochondrial Proton-Translocating ATPases