Essays on Science and SocietyTranslational Medicine

A target for pharmacological intervention in an untreatable human disease

See allHide authors and affiliations

Science  05 Dec 2014:
Vol. 346, Issue 6214, pp. 1192
DOI: 10.1126/science.aaa1811

You are currently viewing the summary.

View Full Text


Mitochondrial dysfunction contributes to a variety of pathological conditions—including cardiovascular disease, diabetes, cancer, muscular disorders, and neurodegenerative disease. Defects in genes important for mitochondrial function can cause severe illness and lead to devastating and untreatable childhood diseases. Leigh syndrome, or subacute necrotizing encephalomyelopathy, is a clinically defined disease presenting with myopathy, lactic acidosis, dyspnea, and characteristic progressive lesions of the brain stem, cerebellum, and basal ganglia.