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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.<\/jats:p>","DOI":"10.1002\/acn3.50846","type":"journal-article","created":{"date-parts":[[2019,8,6]],"date-time":"2019-08-06T15:01:08Z","timestamp":1565103668000},"page":"1877-1881","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":53,"title":["Exploring mTOR inhibition as treatment for mitochondrial disease"],"prefix":"10.1002","volume":"6","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2574-2217","authenticated-orcid":false,"given":"Abigail","family":"Sage\u2010Schwaede","sequence":"first","affiliation":[{"name":"Department of Neurology Columbia University Irving Medical Center New York New York 10032"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristin","family":"Engelstad","sequence":"additional","affiliation":[{"name":"Department of Neurology Columbia University Irving Medical Center New York New York 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