• Andrew Wilner, MD

Magic of Mitochondria

As medical students still do today, more than 40 years ago I struggled to memorize the Krebs cycle, which mitochondria use to create ATP within the cell cytoplasm. Who knew this arcane knowledge would someday come in handy?


Brain and muscle, high energy consumers, are particularly susceptible to mitochondrial dysfunction. Mitochondrial disorders include Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Syndrome (MELAS), Myoclonic Epilepsy with Ragged Red Fibers (MERFF), Barth syndrome, and many others. Consequently, mitochondria are of particular interest to neurologists.


Since my medical school days, basic research has produced enormous gains in understanding the pathophysiology and genetics of mitochondrial diseases. One consequence of this progress is the development of potential therapies.


I recently had the opportunity to interview Hilary Vernon, MD, PhD, an expert in Barth syndrome and Director of the Mitochondrial Medicine Center at Johns Hopkins Hospital, Baltimore, MD. Dr. Vernon was the lead author of a recent presentation of a therapeutic trial of elamipretide for patients with Barth syndrome. Click here for Dr. Vernon's insights into mitochondrial disease.


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