DIFFERENT COPY NUMBERS OF APPARENTLY IDENTICALLY DELETED MITOCHONDRIAL-DNA IN TISSUES FROM A PATIENT WITH KEARNS-SAYRE SYNDROME DETECTED BY PCR

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. © 1990.