Mitochondrial DNA depletion in a patient with long survival.
We studied a 29-year-old woman with myopathy since childhood with evidence of mitochondrial DNA (mtDNA) depletion. Muscle biopsy sample showed cytochrome c oxidase (COX)-negative fibers. Biochemistry showed COX deficiency. Southern blot analysis showed 76% depletion of mtDNA as compared with controls. This patient's clinical course suggests that long survival is possible in some patients with mtDNA depletion.
H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Columbia University College of Physicians & Surgeons, New York, NY 10032, USA.
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TH
Vu
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Tanji
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Valsamis
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S
DiMauro
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Bonilla
D000328:Adult; D001706:Biopsy; D015139:Blotting, Southern; D030401:Cytochrome-c Oxidase Deficiency; D004272:DNA, Mitochondrial / Q000032:analysis / Q000378:metabolism*; D005260:Female; D006801:Humans; D017240:Mitochondrial Myopathies / Q000235:genetics / Q000378:metabolism* / Q000401:mortality; D018482:Muscle, Skeletal / Q000201:enzymology / Q000473:pathology; D013385:Succinate Dehydrogenase / Q000378:metabolism; D017741:Survivors
D004272:DNA, Mitochondrial; D013385:Succinate Dehydrogenase