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(American Journal of Pathology. 1999;155:67-70.)
© 1999 American Society for Investigative Pathology

Short Communication

Mitochondrial DNA Depletion Syndrome is Expressed in Amniotic Fluid Cell Cultures

Julian C. Blake*, Jan-Willem Taanman*, Andrew M. M. Morris{dagger}, R. George F. Gray{ddagger}, J. Mark Cooper*, Patrick J. McKiernan§, James V. Leonard{dagger} and Anthony H. V. Schapira*¶

From the University Department of Clinical Neurosciences,*
Royal Free and University College Medical School, University College London, London; the Metabolic Unit,{dagger}
Institute of Child Health, London, United Kingdom; the Departments of Clinical Chemistry{ddagger}
and Hepatology,§
Birmingham Children's Hospital, Birmingham; and the University Department of Clinical Neurology,
Institute of Neurology, London, United Kingdom

Mitochondrial DNA depletion syndrome is an autosomal inherited disease associated with grossly reduced cellular levels of mitochondrial DNA in infancy. Most patients are born after a full and uncomplicated pregnancy, are normal at birth, but develop symptoms in the early neonatal period. These observations have led to the suggestion that the patients have a defect affecting the control of mitochondrial DNA copy number after birth. Using immunocytochemical techniques, we demonstrated that the disease is already expressed in amniotic fluid cells. Detection of mitochondrial DNA depletion in these fetal cells indicates that the defect may already be expressed early in embryological development.




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