SCID mice containing muscle with human mitochondrial DNA mutations. An animal model for mitochondrial DNA defects.

K M Clark; D J Watt; R N Lightowlers; M A Johnson; J B Relvas; J W Taanman; D M Turnbull

doi:10.1172/JCI944

Department of Neurology, Medical School, University of Newcastle upon Tyne, Newcastle upon Tyne NE2 4HH, United Kingdom.

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Department of Neurology, Medical School, University of Newcastle upon Tyne, Newcastle upon Tyne NE2 4HH, United Kingdom.

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Department of Neurology, Medical School, University of Newcastle upon Tyne, Newcastle upon Tyne NE2 4HH, United Kingdom.

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Department of Neurology, Medical School, University of Newcastle upon Tyne, Newcastle upon Tyne NE2 4HH, United Kingdom.

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Department of Neurology, Medical School, University of Newcastle upon Tyne, Newcastle upon Tyne NE2 4HH, United Kingdom.

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Department of Neurology, Medical School, University of Newcastle upon Tyne, Newcastle upon Tyne NE2 4HH, United Kingdom.

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Department of Neurology, Medical School, University of Newcastle upon Tyne, Newcastle upon Tyne NE2 4HH, United Kingdom.

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Published in Volume 102, Issue 12 on December 15, 1998
J Clin Invest. 1998;102(12):2090–2095. https://doi.org/10.1172/JCI944.
© 1998 The American Society for Clinical Investigation

Published December 15, 1998 - Version history

Defects of the mitochondrial genome are important causes of disease. Despite major advances in our investigation of patients, there is no effective therapy. Progress in this area is limited by the absence of any animal models in which we can evaluate treatment. To develop such a model we have injected human myoblasts into the tibialis anterior of SCID mice after inducing necrosis. After injection of normal human myoblasts, regenerating fibers expressed human beta-spectrin, confirming they were derived from fusion of human myoblasts. The stability of the muscle fibers was inferred by demonstrating the formation of motor end plates on the regenerating fibers. In addition, we show the presence of human cytochrome c oxidase subunit II, which is encoded by the mitochondrial genome, in the regenerated fibers. After injection of human myoblasts containing either the A8344G or the T8993C heteroplasmic mitochondrial DNA mutations, human beta-spectrin positive fibers were found to contain the mutation at a similar level to the injected myoblasts. These studies highlight the potential value of this model for the study of mitochondrial DNA defects.

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SCID mice containing muscle with human mitochondrial DNA mutations. An animal model for mitochondrial DNA defects.

K M Clark, D J Watt, R N Lightowlers, M A Johnson, J B Relvas, J W Taanman, and D M Turnbull

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SCID mice containing muscle with human mitochondrial DNA mutations. An animal model for mitochondrial DNA defects.

K M Clark, D J Watt, R N Lightowlers, M A Johnson, J B Relvas, J W Taanman, and D M Turnbull

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