Medical Definition of Mitochondrial DNA depletion syndrome (MDS, MDDS)

  • Medical Author:
    Melissa Conrad Stöppler, MD

    Melissa Conrad Stöppler, MD, is a U.S. board-certified Anatomic Pathologist with subspecialty training in the fields of Experimental and Molecular Pathology. Dr. Stöppler's educational background includes a BA with Highest Distinction from the University of Virginia and an MD from the University of North Carolina. She completed residency training in Anatomic Pathology at Georgetown University followed by subspecialty fellowship training in molecular diagnostics and experimental pathology.

Mitochondrial DNA depletion syndrome (MDS or MDDS): one of a number of diseases characterized by a decrease in the amount of mitochondrial DNA in affected body tissues. Mitochondria are structures within cells that are important for converting food into an energy form that cells can use, and they contain a small amount of DNA, although most of a cell's DNA resides within its nucleus. MDDS condition are genetic (inherited) and are passed to offspring in an autosomal recessive manner. The condition is usually fatal in infancy. Different forms of the condition affect the muscles (myopathic form), the liver (hepatopathic), or the or both the muscles and brain (encephalomyopathic). The condition gained much public attention in 2017 due to media reports of a boy named Charlie Gard born with the condition in the UK.

Reviewed on 7/18/2017

REFERENCE: National Institutes of Health; National Institute of Neurological Disorders and Stroke. "Mitochondrial Myopathy Information Page."

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