Mitochondrial disorders

Kimberly A Chapman MD PhD (

Dr. Chapman of George Washington University and Children’s National Rare Disease Institute has no relevant financial relationships to disclose.

Emma Ciafaloni MD FAAN, editor. (

Dr. Ciafaloni of the University of Rochester received personal compensation for serving on advisory boards and/or as a consultant for Avexis, Biogen, Pfizer, PTC Therapeutics, Sarepta, Ra pharma, Wave, and Strongbridge Biopharma; and for serving on a speaker’s bureau for Biogen. Dr Ciafaloni also received research and/or grant support from Orphazyme, PTC Therapeutics, Santhera, and Sarepta.

Originally released February 4, 2011; last updated January 24, 2021; expires January 24, 2024


In this review of what is probably the most heterogeneous group of human diseases (the mitochondrial diseases including encephalomyopathies), the author tries to offer the clinician a rational diagnostic framework. After reminding the reader of the basic concepts of mitochondrial genetics, she offers examples of disorders due to mutations in mitochondrial DNA and mutations in nuclear DNA. She discusses commonly accepted pathogenic mechanisms, although pathogenesis is still largely unknown. Finally, she presents therapeutic strategies, including palliative and research-based approaches.

Key points


• Abnormalities in mitochondria can impact any of the high energy organs, including the brain, heart, kidney, gastrointestinal tract, retina, and muscle.

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