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.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1212/wnl.40.1.24 | DOI Listing |
Publication Analysis
Top Keywords
mitochondrial dna
8
kearns-sayre syndrome
8
percentage deleted
8
deleted mtdnas
8
widespread tissue
4
tissue distribution
4
distribution mitochondrial
4
dna deletions
4
deletions kearns-sayre
4
syndrome performed
4
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!