Different copy numbers of apparently identically deleted mitochondrial DNA in tissues from a patient with Kearns-Sayre syndrome detected by PCR |
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| Authors: | B Obermaier-Kusser J Müller-H?cker I Nelson P Lestienne C Enter T Riedele K D Gerbitz |
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| Institution: | Institut für Klinische Chemie und Forschergruppe Diabetes, St?dtisches Krankenhaus München-Schwabing, FRG. |
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| Abstract: | An apparently identical deletion of 4.977 bp in length (position 8,483-13,459) was detectable in the mitochondrial DNA from skeletal muscle, heart muscle, kidney, and liver of a patient with Kearns-Sayre syndrome. The proportion of deleted genome varied from 60% for the skeletal muscle to 15% for heart muscle and kidney, and was below 5% in the liver. The mtDNA heteroplasmy of the liver was only detectable after amplification by PCR. In skeletal and heart muscle histochemical and immunocytochemical findings concerning cytochrome c oxidase were in good correlation with the proportion of deleted mitochondrial DNA. |
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