Widespread tissue distribution of mitochondrial DNA deletions in Kearns‐Sayre syndrome

S. Shanske; C. T. Moraes; A. Lombes; A. F. Miranda; E. Bonilla; P. Lewis; M. A. Whelan; C. A. Ellsworth; S. DiMauro

doi:10.1212/WNL.40.1.24

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Abstract

We performed Southern analysis of mitochondrial DNA (mtDNA) in 6 tissues from a patient with Kearns-Sayre syndrome and found a single deletion of 4.9 kb in all tissues. The percentage of deleted mtDNAs varied widely between tissues, from only 4% in smooth muscle to approximately 50% in skeletal muscle. Samples of DNA obtained from 3 different skeletal muscles and from separate areas of individual tissues showed little variation in percentage of deleted mtDNA. Biochemical analysis showed no clear correlation between mitochondrial enzyme activity and deleted mtDNAs.

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Widespread tissue distribution of mitochondrial DNA deletions in Kearns‐Sayre syndrome

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Widespread tissue distribution of mitochondrial DNA deletions in Kearns‐Sayre syndrome

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