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NEUROLOGY 2005;65:453-455
© 2005 American Academy of Neurology
Brief Communications

Mitochondrial DNA copy number threshold in mtDNA depletion myopathy

S. E. Durham, PhD, E. Bonilla, MD, D. C. Samuels, PhD, S. DiMauro, MD and P. F. Chinnery, PhD, MRCP

From Mitochondrial Research Group (Drs. Durham and Chinnery), The University of Newcastle upon Tyne, UK; Department of Neurology (Drs. Bonilla and DiMauro), Columbia University College of Physicians and Surgeons, New York, NY; and Virginia Bioinformatics Institute (Dr. Samuels), Virginia Polytechnic Institute and State University, Blacksburg.

Address correspondence and reprint requests to Prof Chinnery, Neurology, The Medical School, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK; e-mail: P.F.Chinnery{at}ncl.ac.uk.

The authors measured the absolute amount of mitochondrial DNA (mtDNA) within single muscle fibers from two patients with thymidine kinase 2 (TK2) deficiency and two healthy controls. TK2 deficient fibers containing more than 0.01 mtDNA/µm3 had residual cytochrome c oxidase (COX) activity. This defines the minimum amount of wild-type mtDNA molecules required to maintain COX activity in skeletal muscle and provides an explanation for the mosaic histochemical pattern seen in patients with mtDNA depletion syndrome.

Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the August 9 issue to find the title link for this article.

S.E.D., D.C.S., and P.F.C. are funded by the Wellcome Trust. P.F.C. is a Wellcome Senior Fellow in Clinical Science. E.B. and S.D.M. are supported by NIH grant HD32062, a grant from the Muscular Dystrophy Association, and by the Marriott Mitochondrial Disorder Clinical Research Fund (MMDCRF).

Disclosure: The authors report no conflicts of interest.

Received October 29, 2004. Accepted in final form April 14, 2005.






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