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Journal of Histochemistry and Cytochemistry, Vol. 45, 55-62, Copyright © 1997 by The Histochemical Society, Inc.

ARTICLE

Detection of Mitochondrial DNA Deletions in Human Skin Fibroblasts of Patients with Pearson's Syndrome by Two-color Fluorescence In Situ Hybridization

Mariëtte P.C. van de Corputa, Johannes M.W. van den Ouwelandb, Roeland W. Dirksa, Leen M. 't Hartb, G. Jan. Bruiningc, J. Antonie Maassenb, and Anton K. Raapa
a Departments of Cytochemistry and Cytometry, Leiden University, Leiden, The Netherlands
b Department of Medical Biochemistry, Leiden University, Leiden, The Netherlands
c Department of Paediatrics, Sophia Children Hospital/Academic Hospital Rotterdam, Erasmus University Rotterdam, Rotterdam, The Netherlands

Correspondence to: Anton K. Raap, Dept. of Cytochemistry and Cytometry, Leiden Univ., Wassenaarseweg 72, 2333 AL Leiden, The Netherlands.

Pearson's marrow/pancreas syndrome is a disease associated with a large mitochondrial DNA (mtDNA) deletion. The various tissues of a patient contain heteroplasmic populations of wild-type (WT) and deleted mtDNA molecules. The clinical phenotype of Pearson's syndrome is variable and is not correlated with the size and position of the deletion. The histo- and cytological distribution of WT and deleted mtDNA molecules may be factors that correlate with the phenotypical expression of the disease. Here we introduce a new application of two-color FISH to visualize WT and deleted mtDNA simultaneously in a cell population of in vitro cultured skin fibroblasts of two patients with Pearson's syndrome. At the third passage of culturing, fibroblasts showed a remarkable heterogeneity of WT and deleted mtDNA: about 90% of the cells contained almost 100% WT mtDNA, and 10% of the cells contained predominantly deleted mtDNA. At the tenth passage of culturing, fibroblasts showed a reduction of intercellular heteroplasmy from 10% to 1%, while intracellular heteroplasmy was maintained. This new approach enables detailed analysis of distribution patterns of WT and deleted mtDNA molecules at the inter- and intracellular levels in clinical samples, and may contribute to a better understanding of genotype-phenotype relationships in patients with mitochondrial diseases. (J Histochem Cytochem 45:55-61, 1997)

Key Words: Mitochondrial DNA deletion, Fluorescence in situ, hybridization, Heteroplasmy, Pearson's marrow/pancreas, syndrome


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