Editors' ChoiceMEDICINE

More from mTOR

+ See all authors and affiliations

Sci. Signal.  07 Jan 2014:
Vol. 7, Issue 307, pp. ec6
DOI: 10.1126/scisignal.2005040

Leigh syndrome is a rare, untreatable, inherited neurodegenerative disease in children that is caused by functional disruption of mitochondria, the cell's energy-producing organelles. Johnson et al. (see Perspective by Vafai and Mootha) show that rapamycin, a drug used clinically as an immunosuppressant and for treatment of certain cancers, delayed the onset and progression of neurological symptoms in a mouse model of Leigh syndrome and significantly extended survival of the animals. Rapamycin inhibits the so-called “mTOR” signaling pathway, which is currently under intense study because it plays a contributory role in many common diseases.

S. C. Johnson, M. E. Yanos, E.-B. Kayser, A. Quintana, M. Sangesland, A. Castanza, L. Uhde, J. Hui, V. Z. Wall, A. Gagnidze, K. Oh, B. M. Wasko, F. J. Ramos, R. D. Palmiter, P. S. Rabinovitch, P. G. Morgan, M. M. Sedensky, M. Kaeberlein, mTOR Inhibition alleviates mitochondrial disease in a mouse model of Leigh syndrome. Science 342, 1524–1528 (2013). [Abstract] [Full Text]

S. B. Vafai, V. K. Mootha, A common pathway for a rare disease? Science 342, 1453–1454 (2013).[Abstract] [Full Text]