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Case Reports
. 1999 Jul;155(1):67-70.
doi: 10.1016/S0002-9440(10)65100-0.

Mitochondrial DNA depletion syndrome is expressed in amniotic fluid cell cultures

J C Blake  1 , J W Taanman, A M Morris, R G Gray, J M Cooper, P J McKiernan, J V Leonard, A H Schapira
Affiliations
Case Reports

Mitochondrial DNA depletion syndrome is expressed in amniotic fluid cell cultures

J C Blake et al. Am J Pathol. 1999 Jul.

Abstract

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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Figures

Figure 1.
Figure 1.
Autoradiograph of Southern blot of total genomic DNA isolated from biopsied liver (PL) and skeletal muscle (PM) specimens of the patient and age-matched controls. The blot was hybridized simultaneously with 32P-labeled probes for mtDNA and the nuclear gene for 18S rRNA (nDNA).
Figure 2.
Figure 2.
Patient’s fibroblasts (A) and amniotic fluid cells (B) and control amniotic fluid cells (C) triple-stained for mitochondria (red fluorescence), subunit I of cytochrome-c oxidase (green fluorescence), and nuclear DNA (blue fluorescence).
See this image and copyright information in PMC

References

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