Exploring mTOR inhibition as treatment for mitochondrial disease

Abigail Sage-Schwaede, Kristin Engelstad, Rachel Salazar, Angela Curcio, Alexander Khandji, James H. Garvin, Darryl C. De Vivo*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

25 Scopus citations


Leigh syndrome and MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) are two of the most frequent pediatric mitochondrial diseases. Both cause severe morbidity and neither have effective treatment. Inhibiting the mammalian target of rapamycin (mTOR) pathway has been shown in model mice of Leigh syndrome to extend lifespan and attenuate both the clinical and pathological progression of disease. Based on this observation, we treated two children with everolimus, a rapamycin analogue. The child with Leigh syndrome showed sustained benefit, while the child with MELAS failed to respond and died of progressive disease. We discuss possible mechanisms underlying these disparate responses to mTOR inhibition.

Original languageEnglish (US)
Pages (from-to)1877-1881
Number of pages5
JournalAnnals of clinical and translational neurology
Issue number9
StatePublished - Sep 1 2019
Externally publishedYes

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology


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