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August 2009

Drilling for Energy in Mitochondrial Disease

Arch Neurol. 2009;66(8):931-932. doi:10.1001/archneurol.2009.155

The catalog of mitochondrial and nuclear DNA mutations that impair the synthesis, assembly, or maintenance of proteins necessary for the function of the mitochondrial respiratory chain is large and growing1; and mitochondrial dysfunction due to mechanisms that are not yet completely understood likely play important roles in numerous degenerative diseases, including amyotrophic lateral sclerosis and Alzheimer, Parkinson, and Huntington diseases.2 The manner in which mitochondrial disease impairs cellular function and viability is multifaceted and includes increased production of reactive oxygen species with oxidative degradation of proteins, lipids, and DNA; initiating or accelerating programmed cell death; and limiting cellular energy availability by restricting the rate of oxidative phosphorylation. The energy crisis that accompanies impaired function of the respiratory chain has generally been considered to be the central pathophysiologic mechanism of mitochondrial disease, and attempts to augment cellular energy production have been the focus of most therapeutic trials in mitochondrial disease.